Journal of Movement Disorders

Original Article

Efficacy and Safety of Taltirelin Hydrate in Patients With Ataxia Due to Spinocerebellar Degeneration: Jin Whan Cho, Jee-Young Lee, Han-Joon Kim, Joong-Seok Kim, Kun-Woo Park, Seong-Min Choi, Chul Hyoung Lyoo, Seong-Beom Koh; J Mov Disord. 2025;18(1):35-44. Published online October 21, 2024; DOI: https://doi.org/10.14802/jmd.24127; Correction in: J Mov Disord 2026;19(2):244

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Objective
We conducted this study to assess the efficacy and safety of taltirelin hydrate (TH) in patients with ataxia due to spinocerebellar degeneration (SCD).
Methods
Patients were randomly assigned to either the taltirelin group (5 mg orally, twice daily) or the control group. The primary endpoint was the change in the Korean version of the Scale for the Assessment and Rating of Ataxia (K-SARA) score at 24 weeks. The secondary endpoints included changes in the K-SARA score at 4 and 12 weeks as well as the Clinical Global Impression Scale, the five-level version of the EuroQol five-dimensional questionnaire, the Tinetti balance test, and gait analysis at 4, 12, and 24 weeks.
Results
A total of 149 patients (hereditary:nonhereditary=86:63) were enrolled. There were significant differences in the change in the K-SARA score at 24 weeks from baseline between the taltirelin group and the control group (-0.51±2.79 versus 0.36±2.62, respectively; p=0.0321). For the K-SARA items, the taltirelin group had significantly lower “Stance” and “Speech disturbance” subscores than the control group (-0.04±0.89 versus 0.23±0.79 and -0.07±0.74 versus 0.18±0.67; p=0.0270 and 0.0130, respectively). However, there were no significant differences in changes in other secondary efficacy outcome measures at 24 weeks from baseline between the two treatment arms (p>0.05).
Conclusion
Clinicians might consider the use of TH in the treatment of patients with ataxia due to SCD.

Citations

Citations to this article as recorded by

Taltirelin treatment alleviates PTSD-like symptoms and restores neural oscillations in male mice receiving single prolonged stress
Keke Ding, Zhengrong Zhang, Jingwen Niu, Mingyue Zhu, Junjie Zhang, Lixia Chen, Shaojie Yang, Jingji Wang, Guoqi Zhu
Neuropharmacology.2026; 284: 110791. CrossRef
Long-term efficacy and disease-specific responsiveness to protirelin in patients with spinocerebellar degeneration: A retrospective study
Shohei Okusa, Toshiki Tezuka, Jin Nakahara, Morinobu Seki
Parkinsonism & Related Disorders.2026; 145: 108238. CrossRef

Brief communication

Journey Through Autosomal-Recessive Spastic Ataxia of Charlevoix–Saguenay: Insights From a Case Series of Seven Patients–A Single-Center Study and Review of an Indian Cohort: Mit Ankur Raval, Vikram V Holla, Nitish Kamble, Gautham Arunachal, Babylakshmi Muthusamy, Jitender Saini, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2024;17(4):430-435. Published online August 29, 2024; DOI: https://doi.org/10.14802/jmd.24154

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Abstract PDF Supplementary Material

Objective
In this study, we describe the clinical and investigative profiles of 7 cases of autosomal-recessive spastic ataxia of Charlevoix–Saguenay (ARSACS).
Methods
We performed a retrospective chart review of genetically proven cases of ARSACS from our database. Additionally, we reviewed the literature for reported cases of ARSACS from India.
Results
All 7 patients experienced disease onset within the first decade of life. According to the available data, all patients had walking difficulty (7/7), spastic ataxia (7/7), classical neuroimaging findings (7/7), sensory‒motor demyelinating polyneuropathy (6/6), abnormal evoked potentials (5/5), and a thickened retinal nerve fiber layer (3/3). Exome sequencing revealed 8 unique pathogenic/likely pathogenic variants (6 novel) in the SACS gene. An additional 21 cases (18 families) of ARSACS that could be identified from India had similar clinical and investigational findings. The most common c.8793delA variant may have a founder effect.
Conclusion
Our series adds to the previously reported cases of ARSACS from India and expands the genetic spectrum by adding 6 novel variants.

Citations

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Peripheral Neuropathy-Predominant Adult-Onset Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: Novel Variant in the SACS gene
Anil Dash, Farsana Mustafa, Ayush Agarwal, Divyani Garg, Awadh K Pandit, Achal K Srivastava, Divya M Radhakrishnan
Annals of Indian Academy of Neurology.2026; 29(2): 305. CrossRef

Case Report

Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review: Chia-Yan Kuo, Pei Shan Yu, Chih-Ying Chao, Chun-Chieh Wang, Wen-Lang Fan, Yih-Ru Wu; J Mov Disord. 2023;16(2):202-206. Published online April 26, 2023; DOI: https://doi.org/10.14802/jmd.22105

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Abstract PDF Supplementary Material

Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two novel truncating mutations. Our patient, a 53-year-old female, exhibited pure cerebellar ataxia with c.1922del in exon 18 and c. C3883T mutations in exon 31. Previous studies have indicated that the prevalence of SYNE1 ataxia among East Asian populations is low. In this study, we identified 27 cases of SYNE1 ataxia from 22 families in East Asia. Of the 28 patients recruited in this study (including our patient), 10 exhibited pure cerebellar ataxia, and 18 exhibited ataxia plus syndromes. We could not find an exact correlation between genotypes and phenotypes. Additionally, we established a precise molecular diagnosis in our patient’s family and extended the findings on the ethnic, phenotypic, and genotypic diversity of the SYNE1 mutational spectrum.

Citations

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Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families
Taijun Yunoki, Chika Matsuoka, Yosuke Osakada, Yusuke Fukui, Mami Takemoto, Ryuta Morihara, Toru Yamashita, Hiroyuki Ishiura
Internal Medicine.2026; 65(1): 173. CrossRef
Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients
Xin Huang, Zhao Chen, Qian Jiang, Panyan Liu, Yiqing Gong, Lijing Lei, Jia Chen, Chunrong Wang, Linlin Wan, Lang He, Linliu Peng, Rong Qiu, Beisha Tang, Hong Jiang
The Cerebellum.2025;[Epub] CrossRef

Brief communication

Validity and Reliability of the Korean-Translated Version of the International Cooperative Ataxia Rating Scale in Cerebellar Ataxia: Jinse Park, Jin Whan Cho, Jinyoung Youn, Engseok Oh, Wooyoung Jang, Joong-Seok Kim, Yoon-Sang Oh, Hyungyoung Hwang, Chang-Hwan Ryu, Jin-Young Ahn, Jee-Young Lee, Seong-Beom Koh, Jae H. Park, Hee-Tae Kim; J Mov Disord. 2023;16(1):86-90. Published online December 20, 2022; DOI: https://doi.org/10.14802/jmd.22137

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Abstract PDF Supplementary Material: Objective
The International Cooperative Ataxia Rating Scale (ICARS) is a semiquantitative clinical scale for ataxia that is widely used in numerous countries. The purpose of this study was to investigate the validity and reliability of the Korean-translated version of the ICARS.
Methods
Eighty-eight patients who presented with cerebellar ataxia were enrolled. We investigated the construct validity using exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). We also investigated the internal consistency using Cronbach’s α and intrarater and interrater reliability using intraclass correlation coefficients.
Results
The Korean-translated ICARS showed satisfactory construct validity using EFA and CFA. It also revealed good interrater and intrarater reliability and showed acceptable internal consistency. However, subscale 4 for assessing oculomotor disorder showed moderate internal consistency.
Conclusion
This is the first report to investigate the validity and reliability of the Korean-translated ICARS. Our results showed excellent construct and convergent validity. The reliability is also acceptable.

Review Article

Treatable Ataxias: How to Find the Needle in the Haystack?: Albert Stezin, Pramod Kumar Pal; J Mov Disord. 2022;15(3):206-226. Published online September 7, 2022; DOI: https://doi.org/10.14802/jmd.22069

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Abstract PDF

Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview of different treatable ataxias. The major metabolic and genetic treatable ataxic disorders include ataxia with vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, autosomal recessive cerebellar ataxia due to coenzyme Q10 deficiency, glucose transporter type 1 deficiency, and episodic ataxia type 2. The treatment of these disorders includes the replacement of deficient cofactors and vitamins, dietary modifications, and other specific treatments. Treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, Miller-Fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. Although dietary modification with a gluten-free diet is adequate in gluten ataxia, other autoimmune ataxias are managed by short-course steroids, plasma exchange, or immunomodulation. For autoimmune ataxias secondary to malignancy, treatment of tumor can reduce ataxic symptoms. Chronic alcohol consumption, antiepileptics, anticancer drugs, exposure to insecticides, heavy metals, and recreational drugs are potentially avoidable and treatable causes of ataxia. Infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, Whipple’s disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. These disorders are treated with steroids and antibiotics. Recognizing treatable disorders is of paramount importance when dealing with ataxias given that early treatment can prevent permanent neurological sequelae.

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Case Report

Expanding the Clinical Spectrum of RFC1 Gene Mutations: Dinkar Kulshreshtha, Jacky Ganguly, Mandar Jog; J Mov Disord. 2022;15(2):167-170. Published online March 22, 2022; DOI: https://doi.org/10.14802/jmd.21117

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Abstract PDF Supplementary Material

Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory pathways and the vestibular apparatus. This condition is termed cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Since the identification of this novel gene mutation, the phenotypic spectrum of RFC1 mutations continues to expand and includes not only CANVAS but also slowly progressive cerebellar ataxia, ataxia with chronic cough (ACC), isolated sensory neuropathy and multisystemic diseases. We present a patient with a genetically confirmed intronic repeat expansion in the RFC1 gene with a symptom complex not described previously.

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Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort
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European Journal of Neurology.2026;[Epub] CrossRef
Possible mechanisms connecting cerebellar ataxias and bilateral vestibular weakness: diagnostic and therapeutic implications
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Acute Vestibular Syndrome Unmasking an RFC1 -Spectrum Disorder
Luca Verrecchia, Victor Alm, Håkan Thonberg, Felix Lenner, Aida Paivandy, Lars Feuk, Anna Lindstrand, Daniel Nilsson, Martin Paucar
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Brief communication

Clinical and Imaging Profile of Patients with Joubert Syndrome: Bharath Kumar Surisetti, Vikram Venkappayya Holla, Shweta Prasad, Koti Neeraja, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2021;14(3):231-235. Published online September 16, 2021; DOI: https://doi.org/10.14802/jmd.21066

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Objective
Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.
Methods
This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.
Results
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
Conclusion
Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

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Unilateral Oculomotor Apraxia and Pseudodystonia in Joubert Syndrome Associated With Novel CPLANE1 Variant
Joo Sung Park, Joo‐Yeon Lee, Young Bae Sohn, In Ja Shin, Jung Han Yoon, Don Gueu Park
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Phenotypic Spectrum of KATNIP-Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature
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Genes.2025; 16(5): 524. CrossRef
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Atatürk Üniversitesi Tıp Fakültesi Cerrahi Tıp Bilimleri Dergisi.2024; 3(1): 15. CrossRef
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Case Report

Myoclonus-Ataxia Syndrome Associated with COVID-19: Kuldeep Shetty, Atul Manchakrao Jadhav, Ranjith Jayanthakumar, Seema Jamwal, Tejaswini Shanubhogue, Mallepalli Prabhakar Reddy, Gopal Krishna Dash, Radhika Manohar, Vivek Jacob Philip, Vikram Huded; J Mov Disord. 2021;14(2):153-156. Published online April 6, 2021; DOI: https://doi.org/10.14802/jmd.20106

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Neurological manifestations of coronavirus disease (COVID-19) have increasingly been reported since the onset of the pandemic. Herein, we report a relatively new presentation. A patient in the convalescence period following a febrile illness with lower respiratory tract infection (fever, myalgia, nonproductive cough) presented with generalized disabling myoclonus, which is phenotypically suggestive of brainstem origin, along with additional truncal cerebellar ataxia. His neurology work-ups, such as brain MRI, electroencephalography, serum autoimmune and paraneoplastic antibody testing, were normal. His CT chest scan revealed right lower lung infiltrates, and serological and other laboratory testing did not show evidence of active infection. COVID-19 titers turned out to be strongly positive, suggestive of post-COVID-19 lung sequelae. He responded partially to antimyoclonic drugs and fully to a course of steroids, suggesting a para- or postinfectious immune-mediated pathophysiology. Myoclonusataxia syndrome appears to be a neurological manifestation of COVID-19 infection, and knowledge regarding this phenomenon should be increased among clinicians for better patient care in a pandemic situation.

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Electrophysiological features and outcomes of post-infectious myoclonus-ataxia syndrome: a case report and literature review
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Review Article

Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms: Hiroshi Mitoma, Mario Manto, Marios Hadjivassiliou; J Mov Disord. 2021;14(1):10-28. Published online January 12, 2021; DOI: https://doi.org/10.14802/jmd.20040

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Abstract PDF

Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. IMCAs have diverse etiologies, such as gluten ataxia, postinfectious cerebellitis, paraneoplastic cerebellar degeneration, opsoclonus myoclonus syndrome, anti-GAD ataxia, and primary autoimmune cerebellar ataxia. The cerebellum, a vulnerable autoimmune target of the nervous system, has remarkable capacities (collectively known as the cerebellar reserve, closely linked to plasticity) to compensate and restore function following various pathological insults. Therefore, good prognosis is expected when immune-mediated therapeutic interventions are delivered during early stages when the cerebellar reserve can be preserved. However, some types of IMCAs show poor responses to immunotherapies, even if such therapies are introduced at an early stage. Thus, further research is needed to enhance our understanding of the autoimmune mechanisms underlying IMCAs, as such research could potentially lead to the development of more effective immunotherapies. We underscore the need to pursue the identification of robust biomarkers.

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Neurobiology of Disease.2024; 192: 106422. CrossRef
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Clinical and Experimental Neuroimmunology.2024; 15(3): 146. CrossRef
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World Journal of Clinical Cases.2024; 12(12): 2031. CrossRef
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Neurology Neuroimmunology & Neuroinflammation.2024;[Epub] CrossRef
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Journal of Neurology.2024; 271(10): 7046. CrossRef
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Pharmacological Research.2023; 191: 106773. CrossRef
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Journal of Neuroimmunology.2022; 370: 577918. CrossRef
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BMC Neurology.2022;[Epub] CrossRef
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Current Treatment Options in Neurology.2022; 24(10): 453. CrossRef
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Brain Sciences.2021; 11(7): 932. CrossRef
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Case Reports

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?: Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2021;14(1):65-69. Published online October 31, 2020; DOI: https://doi.org/10.14802/jmd.20083

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Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.

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Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pabl
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Sialidosis type 1 in a Turkish family: a case report and review of literatures
Mustafa Kılıç, Suzan İcil, Abdullah Sezer, Öznur Kaya-Güneş, Selim S. Comoğlu
Journal of Pediatric Endocrinology and Metabolism.2025; 38(2): 176. CrossRef
Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report
Kundan Kumar Yadav, Milan Pokhrel, Geeta Bashyal, Shankar Pokharel, Santoshi Pokharel Kunwar
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A young woman with ataxia, seizures and myoclonus
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Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
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Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I
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Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation
Jingjing Lin, Yun‐Lu Li, Bo‐Li Chen, Hui‐Zhen Su, Yi‐Heng Zeng, Rui‐Huang Zeng, Yu‐Duo Zhang, Ru‐Kai Chen, Nai‐Qing Cai, Yi‐Kun Chen, Ru‐Ying Yuan, Jun‐Yi Jiang, Xiang‐Ping Yao, Ning Wang, Wan‐Jin Chen, Kang Yang
Annals of Clinical and Translational Neurology.2024; 11(11): 2998. CrossRef
Two cases of type I sialidosis and a literature review
Yuan Ding, Ming Cheng, Chunxiu Gong
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New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia: Yannic Saathoff, Saskia Biskup, Claudia Funke, Christian Roth; J Mov Disord. 2021;14(1):70-74. Published online October 31, 2020; DOI: https://doi.org/10.14802/jmd.20082

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Abstract PDF

The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several SCA subtypes are difficult to establish, and the underlying mechanisms remain unclear. Here, we report a 58-year-old male patient who presented with severe generalized ataxia, horizontal gaze-evoked nystagmus, cognitive impairment and a positive family history of gait difficulties. Genetic panel diagnostics revealed a new nonsense pathogenic variant in the CACNA1A gene (c.2983G>T; p. Glu995*) that segregated with the phenotype in three clinically affected family members. This gene is related to SCA type 6 (SCA6), episodic ataxia type 2, familial hemiplegic migraine type 1, among others. When it is supported by the clinical findings and family history, additional DNA sequencing beyond fragment length analysis should be performed.

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The genotype–phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews
Miriam Kessi, Baiyu Chen, Nan Pang, Lifen Yang, Jing Peng, Fang He, Fei Yin
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Hui Sun, Xiao-Rong Shen, Zi-Bing Fang, Zong-Zhi Jiang, Xiao-Jing Wei, Zi-Yi Wang, Xue-Fan Yu
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Review Article

Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia: Shoichiro Ando, Masato Kanazawa, Osamu Onodera; J Mov Disord. 2020;13(1):20-26. Published online December 19, 2019; DOI: https://doi.org/10.14802/jmd.19061

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Abstract PDF

Progressive supranuclear palsy (PSP) is characterized by supranuclear gaze palsy, dystonic rigidity of the neck and upper trunk, frequent falls and mild cognitive impairment. Cerebellar ataxia is one of the exclusion criteria given by the National Institute of Neurological Disorders and Stroke and the Society for Progressive Supranuclear Palsy. As a result, pathologically proven PSP patients exhibiting cerebellar ataxia have often been misdiagnosed with spinocerebellar degeneration, specifically multiple system atrophy with predominant cerebellar ataxia (MSA-C). However, more recently, it has been recognized that patients with PSP can present with truncal and limb ataxia as their initial symptom and/or main manifestation. These patients can be classified as having PSP with predominant cerebellar ataxia (PSP-C), a new subtype of PSP. Since the development of this classification, patients with PSP-C have been identified primarily in Asian countries, and it has been noted that this condition is very rare in Western communities. Furthermore, the clinical features of PSP-C have been identified, enabling it to be distinguished from other subtypes of PSP and MSA-C. In this review, we describe the clinical and neuropathological features of PSP-C. The hypothesized pathophysiology of cerebellar ataxia in PSP-C is also discussed.

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Journal of Neural Transmission.2026; 133(5): 831. CrossRef
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Christine Ryan, Christian Camargo, Teddy Salan, Suresh Pallikkuth, Hanzhi Gao, Varan Govind
Journal of Neurology.2026;[Epub] CrossRef
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Sarah Wrigley, Patrick W. Cullinane, Jacy Bezerra Parmera, Vitor Maia Arca, Walter Sifontes Valladares, María Rivera‐Sánchez, Toby Curless, Leckhna Paras Chajed, Maggie Burrows, Tamas Revesz, Huw R. Morris, Zane Jaunmuktane, Thomas T. Warner, Eduardo de P
Movement Disorders.2025; 40(10): 2116. CrossRef
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Frontiers in Neurology.2024;[Epub] CrossRef
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Ariane Veilleux Carpentier, Nikolaus R. McFarland
Current Opinion in Neurology.2023; 36(4): 309. CrossRef
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Journal of the Neurological Sciences.2022; 433: 120020. CrossRef
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Journal of Clinical Neurology.2022; 18(3): 259. CrossRef
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Nahid Olfati, Ali Shoeibi, Irene Litvan
Frontiers in Neurology.2022;[Epub] CrossRef
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The Cerebellum.2022; 22(6): 1098. CrossRef
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Shane Lyons, Sean O'Dowd, Richard Walsh, Tim Lynch
Advances in Clinical Neuroscience & Rehabilitation.2022;[Epub] CrossRef
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Ashley M. Paul, Weiyi Mu, Ankur Butala, Kemar E. Green
Neurology.2022; 99(21): 957. CrossRef
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David Crosiers, Anne Sieben, Sarah Ceyssens, Paul M. Parizel, Jonathan Baets
Acta Neurologica Belgica.2021; 121(2): 599. CrossRef
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Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2021; 121(5): 111. CrossRef
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New England Journal of Medicine.2021; 385(2): 165. CrossRef
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Nature Reviews Neurology.2021; 17(10): 601. CrossRef
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Frontiers in Neurology.2020;[Epub] CrossRef

Brief communication

Assessment of Bone Mineral Density of Patients with Spinocerebellar Ataxia Type 3: Aline MS Farias, Simone Appenzeller, Marcondes C França, Alberto RM Martinez, Elba E Etchebehere, Thiago F Souza, Allan O Santos; J Mov Disord. 2019;12(1):43-46. Published online January 30, 2019; DOI: https://doi.org/10.14802/jmd.18041

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Objective
Machado-Joseph disease (MJD) is a spinocerebellar ataxia, and osteoporosis is a multifactor disease that may affect patients with neurologic conditions. The frequency of osteoporosis among MJD patients, however, has not been studied. The purpose of this study is to evaluate bone mineral density (BMD) and identify correlations between clinical factors and frequency of vertebral fractures in patients with MJD.
Methods
Clinical data, lumbar X-rays and BMD data were obtained in 30 patients with MJD.
Results
Ten patients (33.3%) showed low BMD in at least one of the sites studied based on Z-scores. The Z-score correlated directly with body mass index, and the femoral neck Z-score was inversely correlated with cytosine-adenine-guanine (CAG) expansion. There was no correlation between BMD and other clinical factors. Forty-three percent of the patients reported previous pathologic fractures. Five patients (16.7%) had at least one fracture detected by lumbar X-ray.
Conclusion
Low BMD and fractures are frequent among MJD patients, and careful management of BMD may be beneficial for these patients.

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Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy
Leslie J. Roberts, Michael McVeigh, Linda Seiderer, Ian H. Harding, Louise A. Corben, Martin Delatycki, David J. Szmulewicz
Neurology Genetics.2022;[Epub] CrossRef
Effects of Neurological Disorders on Bone Health
Ryan R. Kelly, Sara J. Sidles, Amanda C. LaRue
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Review Article

Abnormal Eye Movements in Parkinsonism and Movement Disorders: Ileok Jung, Ji-Soo Kim; J Mov Disord. 2019;12(1):1-13. Published online January 30, 2019; DOI: https://doi.org/10.14802/jmd.18034

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Abstract PDF Supplementary Material

Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson’s disease (PD) mostly show hypometric saccades, especially for the selfpaced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson’s syndrome. Patients with cortico-basal syndrome typically show a delayed onset of saccades. Downbeat and gaze-evoked nystagmus and hypermetric saccades are characteristic ocular motor findings in ataxic disorders due to cerebellar dysfunction. In this review, we discuss various ocular motor findings in movement disorders, including PD and related disorders, ataxic syndromes, and hyperkinetic movement disorders. Systemic evaluation of the ocular motor functions may provide valuable information for early detection and monitoring of movement disorders, despite an overlap in the abnormal eye movements among different movement disorders.

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Non-nystagmus hyperkinetic eye movement disorders
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Journal of Neurology.2025;[Epub] CrossRef
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BMJ Open.2025; 15(7): e094106. CrossRef
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Journal of Clinical Neurology.2024; 20(1): 37. CrossRef
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Original Articles

The ‘Hot Cross Bun’ Sign Is Not Always Multiple System Atrophy: Etiologies of 11 Cases: Christopher Way, David Pettersson, Amie Hiller; J Mov Disord. 2019;12(1):27-30. Published online December 19, 2018; DOI: https://doi.org/10.14802/jmd.18031

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Abstract PDF

Objective
To clarify the specificity of the ‘hot cross bun’ sign (HCBS) for multiple system atrophy (MSA) in adult cerebellar ataxia or parkinsonism.
Methods
The radiologic information systems at an academic center and affiliated veterans’ hospital were queried using the keywords ‘hot cross bun,’ ‘pontocerebellar,’ ‘cruciate,’ ‘cruciform,’ ‘MSA,’ ‘multiple system atrophy,’ and ‘multisystem atrophy.’ Scans were reviewed by a neurologist and neuroradiologist to identify the HCBS. Subjects with the HCBS were reviewed by 2 neurologists to identify the most likely etiology of the patient’s neurologic symptoms.
Results
Eleven cases were identified. Etiologies included MSA (4 probable, 2 possible), hereditary cerebellar ataxia (3/11), probable dementia with Lewy bodies (1/11), and uncertain despite autopsy (1/11).
Conclusion
MSA was the most common etiology. However, 5 of the 11 patients did not have MSA. The most common alternate etiology was an undefined hereditary cerebellar ataxia (3/11).

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Clinical Neurology and Neurosurgery.2023; 233: 107975. CrossRef
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Radiological hints for differentiation of cerebellar multiple system atrophy from spinocerebellar ataxia
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Ansuya Kasavelu Naidoo, Cait‐Lynn Deanne Wells, Yashvir Rugbeer, Neil Naidoo
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Various Diseases and Clinical Heterogeneity Are Associated With “Hot Cross Bun”
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Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort: Ryuji Sakakibara, Fuyuki Tateno, Masahiko Kishi, Yohei Tsuyusaki, Yosuke Aiba, Hitoshi Terada, Tsutomu Inaoka, Setsu Sawai, Satoshi Kuwabara, Fumio Nomura; J Mov Disord. 2017;10(3):116-122. Published online August 8, 2017; DOI: https://doi.org/10.14802/jmd.17011

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Abstract PDF

Objective
Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia. The aim of this study is to genetically screen genes involved in SCA in a Japanese single-hospital cohort.
Methods
Over an 8-year period, 140 patients with cerebellar ataxia were observed. There were 109 patients with sporadic cerebellar ataxia (no family history for at least four generations, 73 patients with MSA-C, and 36 patients with non-MSA-C sporadic cerebellar ataxia) and 31 patients with familial cerebellar ataxia. We performed gene analysis comprising SCA1, 2, 3, 6, 7, 8, 12, 17, 31, and dentatorubro-pallidoluysian atrophy (DRPLA) in 28 of 31 non-MSA-C sporadic patients who requested the test. Familial patients served as a control.
Results
Gene abnormalities were found in 57% of non-MSA-C sporadic cerebellar ataxia cases. Among patients with sporadic cerebellar ataxia, abnormalities in SCA6 were the most common (36%), followed by abnormalities in SCA1 (7.1%), SCA2 (3.6%), SCA3 (3.6%), SCA8 (3.6%), and DRPLA (3.6%). In contrast, gene abnormalities were found in 75% of familial cerebellar ataxia cases, with abnormalities in SCA6 being the most common (29%). For sporadic versus familial cases for those with SCA6 abnormalities, the age of onset was older (69 years vs. 59 years, respectively), and CAG repeat length was shorter (23 vs. 25, respectively) in the former than in the latter (not statistically significant).
Conclusion
Autosomal-dominant mutations in SCA genes, particularly in SCA6, are not rare in sporadic cerebellar ataxia. The reason for the frequency of mutations in SCA6 remains unclear; however, the reason may reflect a higher age at onset and variable penetrance of SCA6 mutations.

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Case Report

Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos: Zheyu Xu, Tchoyoson C.C. Lim, Wing Lok Au, Louis C.S. Tan; J Mov Disord. 2017;10(2):87-91. Published online April 18, 2017; DOI: https://doi.org/10.14802/jmd.16059

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Abstract PDF Supplementary Material

Progressive supranuclear palsy (PSP) with predominant cerebellar ataxia (PSP-C) is a rare phenotype of PSP. The clinical and radiological features of this disorder remain poorly characterized. Through a retrospective case series, we aim to characterize the clinical and radiological features of PSP-C. Four patients with PSP-C were identified: patients who presented with prominent cerebellar dysfunction that disappeared with the progression of the disease. Supranuclear gaze palsy occurred at a mean of 2.0 ± 2.3 years after the onset of ataxia. Mild cerebellar volume loss and midbrain atrophy were detected on brain imaging, which are supportive of a diagnosis of PSP. Videos are presented illustrating the co-existence of cerebellar signs and supranuclear gaze palsy and the disappearance of cerebellar signs with disease progression. Better recognition and the development of validated diagnostic criteria would aid in the antemortem recognition of this rare condition.

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Review Articles

Episodic Ataxias: Clinical and Genetic Features: Kwang-Dong Choi, Jae-Hwan Choi; J Mov Disord. 2016;9(3):129-135. Published online September 21, 2016; DOI: https://doi.org/10.14802/jmd.16028

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Abstract PDF

Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features. Furthermore, genetically confirmed EAs have mostly been identified in Caucasian families. In this article, we review the current knowledge on the clinical and genetic characteristics of EAs. Additionally, we summarize the phenotypic features of the genetically confirmed EA2 families in Korea.

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Hereditary Cerebellar Ataxias: A Korean Perspective: Ji Sun Kim, Jin Whan Cho; J Mov Disord. 2015;8(2):67-75. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15006

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Abstract PDF

Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.

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Parkinsonism & Related Disorders.2019; 58: 74. CrossRef
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations
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neurogenetics.2019; 20(2): 65. CrossRef
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
Szu‐Ju Chen, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Chin‐Hsien Lin
Brain and Behavior.2019;[Epub] CrossRef
Differential value of brain magnetic resonance imaging in multiple system atrophy cerebellar phenotype and spinocerebellar ataxias
Minkyeong Kim, Jong Hyeon Ahn, Yoonsu Cho, Ji Sun Kim, Jinyoung Youn, Jin Whan Cho
Scientific Reports.2019;[Epub] CrossRef
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Journal of Clinical Neurology.2018; 14(3): 374. CrossRef
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Journal of Neuroimmunology.2017; 309: 82. CrossRef
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Scientific Reports.2017;[Epub] CrossRef
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Journal of Clinical Neurology.2016; 12(1): 126. CrossRef

Original Article

Ataxia with Vitamin E Deficiency in Norway: Areej Elkamil, Krisztina K. Johansen, Jan Aasly; J Mov Disord. 2015;8(1):33-36. Published online January 31, 2015; DOI: https://doi.org/10.14802/jmd.14030

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Abstract PDF

Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
Methods We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
Results A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4–5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
Conclusions We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.

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The Journal of Medical Investigation.2021; 68(3.4): 400. CrossRef
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Case Report

A Case of Multiple System Atrophy-Cerebellar Type Preceded by Dementia: Eun Hye Jang, Joo Kyung Lee, Hyun Jung Jang, Mi-Jung Kim, Sun Ju Chung; J Mov Disord. 2012;5(2):48-52.; DOI: https://doi.org/10.14802/jmd.12011

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Abstract PDF

Multiple system atrophy (MSA) is a sporadic, adult-onset disease characterized by progressive degeneration of nervous systems including cerebellar, pyramidal, extrapyramidal, and autonomic system. Although a few recent studies reported that cognitive impairments could occur in patients with MSA, prominent dementia with progressive decline is not a typical clinical manifestation of MSA. In particular, dementia with MSA-cerebellar type is very rare. We have experienced a patient with 2-year history of severe cognitive impairment, who was finally diagnosed as MSA-cerebellar type.

Citations

Citations to this article as recorded by

Delivering the diagnosis of multiple system atrophy: a multicenter survey on Japanese neurologists’ perspectives
Miki Yoshitake, Atsuhiko Sugiyama, Takayoshi Shimohata, Nobuyuki Araki, Masahide Suzuki, Kazumoto Shibuya, Kengo Nagashima, Nobutaka Hattori, Satoshi Kuwabara
BMC Neurology.2024;[Epub] CrossRef
Mitochondrial dysfunction and altered ribostasis in hippocampal neurons with cytoplasmic inclusions of multiple system atrophy
Norihisa Maeda, Hiroyuki Honda, Satoshi O. Suzuki, Naoki Fujii, Jun‐ichi Kira, Toru Iwaki
Neuropathology.2018; 38(4): 361. CrossRef
Mechanisms and prevention of sudden death in multiple system atrophy
Takayoshi Shimohata, Naotaka Aizawa, Hideaki Nakayama, Hiroshige Taniguchi, Yasuyoshi Ohshima, Hitoshi Okumura, Tetsuya Takahashi, Akio Yokoseki, Makoto Inoue, Masatoyo Nishizawa
Parkinsonism & Related Disorders.2016;[Epub] CrossRef
Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders
Erin E. Robertson, Deborah A. Hall, Andrew R. McAsey, Joan A. O’Keefe
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Original Article

Preliminary Study of Intravenous Amantadine Treatment for Ataxia Management in Patients with Probable Multiple System Atrophy with Predominant Cerebellar Ataxia: Jinyoung Youn, Hyeeun Shin, Ji Sun Kim, Jin Whan Cho; J Mov Disord. 2012;5(1):1-4.; DOI: https://doi.org/10.14802/jmd.12001

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Abstract PDF

Background and Purpose:

Multiple system atrophy with predominant cerebellar ataxia is a disabling neurologic disease. However, effective management has not yet been established. We conducted a short-term, open-label preliminary study to assess the benefits of intravenous amantadine treatment in patients with probable multiple system atrophy with predominant cerebellar ataxia.

Methods:

Twenty patients (10 male, 10 female) with probable multiple system atrophy with predominant cerebellar ataxia received 400 mg of amantadine by intravenous per day for 5 days. Ataxia severity was evaluated by the International Cooperative Ataxia Rating Scale before and after intravenous amantadine therapy and all subjects reported subjective improvement after intravenous amantadine treatment using a patient global impression scale. We analyzed the total and subscale scores by the ataxia scale and patient global impression scale.

Results:

The mean age was 57.4 years (range: 47–72) and the mean disease duration was 30.8 months (range: 11–79). The ataxia severity significantly decreased after intravenous amantadine therapy from 42.5 to 37.3 (p < 0.001). The mean patient global impression scale for improvement was 2.9 and there were no side effects of intravenous amantadine treatment observed. When we assessed responders, the duration of intravenous amantadine effect was more than 1 month in 4 subjects of 7 responders.

Conclusions:

Our findings suggest that intravenous amantadine treatment can be a safe management option in cerebellar ataxia, although the mechanism is unclear. Thus, further double-blind, long-term studies with a larger sample size are needed.

Citations

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Low Dose Amantadine and Escitalopram in Progressive Supranuclear Palsy and Multiple System Atrophy
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Behavioural Brain Research.2024; 472: 115173. CrossRef
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Jong Hyeon Ahn, Dongyeong Lee, Minkyeong Kim, Jin Whan Cho, Won Hyuk Chang, Jinyoung Youn
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Ghada M. Aboelfadl, Saeid Elsawy, Belal O. Elnady, Rasha Hamed
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E.A. Katunina
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Adit Friedberg, Ilana Erikh, Maria Nassar, Elliot Sprecher, Ilana Schlesinger
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Review Article

MicroRNAs in Experimental Models of Movement Disorders: Soon-Tae Lee, Manho Kim; J Mov Disord. 2011;4(2):55-59.; DOI: https://doi.org/10.14802/jmd.11011

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Abstract PDF

MicroRNAs (miRNAs) are small RNAs comprised of 20–25 nucleotides that regulates gene expression by inducing translational repression or degradation of target mRNA. The importance of miRNAs as a mediator of disease pathogenesis and therapeutic targets is rapidly emerging in neuroscience, as well as oncology, immunology, and cardiovascular diseases. In Parkinson’s disease and related disorders, multiple studies have identified the implications of specific miRNAs and the polymorphisms of miRNA target genes during the disease pathogenesis. With a focus on Parkinson’s disease, spinocerebellar ataxia, hereditary spastic paraplegia, and Huntington’s disease, this review summarizes and interprets the observations, and proposes future research topics in this field.

Citations

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Rapid colorimetric analysis of multiple microRNAs using encoded hydrogel microparticles
Ju Yeon Kim, Seok Joon Mun, Yoon Ho Roh, Ki Wan Bong
The Analyst.2021; 146(18): 5508. CrossRef
Depressive symptoms are associated with a functional polymorphism in a miR-433 binding site in the FGF20 gene
Karen M. Jiménez, Angela J. Pereira-Morales, Ana Adan, Sandra Lopez-Leon, Diego A. Forero
Molecular Brain.2018;[Epub] CrossRef
MiR-144 promotes β-amyloid accumulation-induced cognitive impairments by targeting ADAM10 following traumatic brain injury
Liqian Sun, Manman Zhao, Jingbo Zhang, Aihua Liu, Wenjun Ji, Youxiang Li, Xinjian Yang, Zhongxue Wu
Oncotarget.2017; 8(35): 59181. CrossRef
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Case Report

A Case of Genetically Confirmed Spinocerebellar Ataxia Type 8: Gyoungim Suh, Won Chan Kim, Myung Sik Lee; J Mov Disord. 2008;1(2):90-92.; DOI: https://doi.org/10.14802/jmd.08017

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Abstract PDF: Spinocerebellar ataxia type 8 patients typically have a slowly progressive, adult-onset ataxia. SCA8 is characterized by relatively pure cerebellar ataxia, which is caused by the expansion of combined CTA/CTG repeats on chromosome 13q21. We report a 58 years old woman with slowly progressive dysarthria, and gait ataxia. We performed genetic studies for SCA 1, 2, 3, 6, 7, 8, 17 and detected CTA/CTG repeat expansion in the SCA8 gene.

Original Article

Reliability of Serum Anti-thyroid Antibody Screening in the Diagnosis of Parkinson’s Disease and Multiple System Atrophy: Taek-Jun Lee, Hee-Young Shin, Won Tae Yoon, Won Yong Lee; J Mov Disord. 2008;1(2):75-81.; DOI: https://doi.org/10.14802/jmd.08014

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193 Download

Abstract PDF: Backgrounds:
Ataxia associated with Hashimoto’s thyroiditis autoantibodies has been reported as acquired cerebellar ataxia. However, relationship between anti-thyroid antibodies and cerebellar ataxia has not been clarified yet.
Objectives:
We aimed to analysis the relibility of serum anti-thyroid antibodies screening in the diagnosis of Parkinson’s disease (PD) and multiple system atrophy (MSA).
Method:
We enrolled 105 patients with clinically diagnosed PD and 75 patients with probable MSA. Patients with PD were classified into 70 patients with early PD (Hoehn & Yahr stage I to II) and 35 patients with late PD (Hoehn & Yahr stage III to IV). In MSA, 28 patients were classified as MSA-p (parkinsonism predominant) and 47 MSA-c (cerebellar predominant). For analysis of thyroid function, serum free triiodothyronine (T3), free thyroxine (T4), anti-thyroglobuline (TG) antibodies and anti-microsomal antibodies were measured. Cut-off level for abnormal titers of anti-thyroid antibodies were defiend as above 100 U/ml.
Results:
Abnormally high titer of serum anti-TG antibodies and anti-microsomal antibodies was more frequently observed in MSA than in PD (p =0.001 and 0.003, respectively). However, there was no significant difference in the frequency of abnormal titer either between MSA-c and MSA-p (p>0.05) nor between early PD and late PD (p>0.05). Among clinical parameters, only ataxia was correlated with both titer of anti-TG antibody and anti-microsomal antibody (p=0.007 and 0.002, respectively).
Conclusion:
These results suggest that high titer of anti-thyroid antibodies may be associated with MSA rather than PD and screening of serum anti-thyroid antibodies may be helpful for discrimiation of PD from MSA. However, anti-thyroid antibodies screening may not be helpful to differentiate MSA-c from MSA-p.

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