Journal of Movement Disorders

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.

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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Genetic Testing of Movements Disorders: A Review of Clinical Utility
Dennis Yeow, Laura I. Rudaks, Sue-Faye Siow, Ryan L. Davis, Kishore R. Kumar
Tremor and Other Hyperkinetic Movements.2024;[Epub] CrossRef
Rehabilitation in ataxia
Anupam Gupta, NavinB Prakash, Hafis Rahman
Indian Journal of Physical Medicine & Rehabilitation.2023; 33(1): 21. CrossRef

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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Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Pablo Iruzubieta, Alessandro Salvalaggio, Gorka Fernández‐Eulate, Natalia Dominik, Bianca Rugginini, Arianna Manini, Elena Abati, Stefano Facchini, Katarina Manso, Ines
Movement Disorders.2024; 39(1): 209. CrossRef

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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Abstract PDF Supplementary Material

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.

Citations

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Clinical and genetic characteristics of 36 children with Joubert syndrome
Yan Dong, Ke Zhang, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi
Frontiers in Pediatrics.2023;[Epub] CrossRef
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome
Reza Shervin Badv, Mojdeh Mahdiannasser, Maryam Rasoulinezhad, Laleh Habibi, Ali Rashidi-Nezhad
Molecular Biology Reports.2022; 49(8): 7231. CrossRef
Congenital Brain Malformations: An Integrated Diagnostic Approach
Bimal P. Chaudhari, Mai-Lan Ho
Seminars in Pediatric Neurology.2022; 42: 100973. CrossRef

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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Abstract PDF Supplementary Material

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.

Citations

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Opsoclonus Myoclonus Ataxia Syndrome Due to SARS-CoV-2
Josef Finsterer, Fulvio A. Scorza
Neuro-Ophthalmology.2023; 47(1): 1. CrossRef
Myoclonus in patients with COVID‐19: Findings of autoantibodies against brain structures in cerebrospinal fluid
Isa Lindqvist, Janet L. Cunningham, Jan Mulder, Amalia Feresiadou, Elham Rostami, Johan Virhammar, Eva Kumlien
European Journal of Neurology.2023; 30(10): 3142. CrossRef
Temporal Changes in Brain Perfusion in a Patient with Myoclonus and Ataxia Syndrome Associated with COVID-19
Kenta Osawa, Atsuhiko Sugiyama, Akiyuki Uzawa, Shigeki Hirano, Tatsuya Yamamoto, Masahiko Nezu, Nobuyuki Araki, Hiroki Kano, Satoshi Kuwabara
Internal Medicine.2022; 61(7): 1071. CrossRef
Post‐infectious cerebellar ataxia following COVID‐19 in a patient with epilepsy
Sidhartha Chattopadhyay, Judhajit Sengupta, Sagar Basu
Clinical and Experimental Neuroimmunology.2022; 13(4): 323. CrossRef
Persistent neurological manifestations in long COVID-19 syndrome: A systematic review and meta-analysis
Rizaldy Taslim Pinzon, Vincent Ongko Wijaya, Abraham Al Jody, Patrick Nalla Nunsio, Ranbebasa Bijak Buana
Journal of Infection and Public Health.2022; 15(8): 856. CrossRef
Anti-neuronal antibodies against brainstem antigens are associated with COVID-19
Guglielmo Lucchese, Antje Vogelgesang, Fabian Boesl, Dina Raafat, Silva Holtfreter, Barbara M. Bröker, Angela Stufano, Robert Fleischmann, Harald Prüss, Christiana Franke, Agnes Flöel
eBioMedicine.2022; 83: 104211. CrossRef
Post–COVID‐19 Myoclonus–Ataxia Syndrome Responsive to Intravenous Immunoglobulins
Massimiliano Godani, Alessandro Beronio, Giuseppe Lanza
Movement Disorders Clinical Practice.2022;[Epub] CrossRef
Anti-GAD associated post-infectious cerebellitis after COVID-19 infection
Ahmed Serkan Emekli, Asuman Parlak, Nejla Yılmaz Göcen, Murat Kürtüncü
Neurological Sciences.2021; 42(10): 3995. CrossRef

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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Dick Jaarsma, Maria B. Birkisdóttir, Randy van Vossen, Demi W.G.D. Oomen, Oussama Akhiyat, Wilbert P. Vermeij, Sebastiaan K.E. Koekkoek, Chris I. De Zeeuw, Laurens W.J. Bosman
Neurobiology of Disease.2024; 192: 106422. CrossRef
Paraneoplastic Cerebellar Degeneration Associated with Breast Cancer: A Case Report and a Narrative Review
Rosario Luca Norrito, Maria Grazia Puleo, Chiara Pintus, Maria Grazia Basso, Giuliana Rizzo, Tiziana Di Chiara, Domenico Di Raimondo, Gaspare Parrinello, Antonino Tuttolomondo
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Immune‐mediated spastic ataxia masquerading as clinically probable multisystem atrophy in an elderly woman
Rithvik Ramesh, Anuhya Chadalawada, Pedapati Radhakrishna, Lakshmi Narasimhan Ranganathan, Philo Hazeena, Sundar Shanmugam, Deepa Avadhani
Clinical and Experimental Neuroimmunology.2024;[Epub] CrossRef
Paraneoplastic neurological syndromes: upgraded approaches to diagnosis
V. N. Grigoryeva, E. A. Ruina
Russian neurological journal.2024; 29(1): 4. CrossRef
Neuronal antibodies in nonparaneoplastic autoimmune cerebellar ataxias
Albert Saiz, Francesc Graus
Current Opinion in Neurology.2024;[Epub] CrossRef
Paraneoplastic Cerebellar Ataxia: A Case Report and Literature Review
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Advances in Clinical Medicine.2024; 14(03): 350. CrossRef
Autoantibodies related to ataxia and other central nervous system manifestations of gluten enteropathy
Tsvetelina Velikova, Georgi Vasilev, Russka Shumnalieva, Lyubomir Chervenkov, Dimitrina Georgieva Miteva, Milena Gulinac, Stamatios Priftis, Snezhina Lazova
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Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
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Proinflammatory activation of microglia in the cerebellum hyperexcites Purkinje cells to trigger ataxia
Shu-Tao Xie, Wen-Chu Fan, Xian-Sen Zhao, Xiao-Yang Ma, Ze-Lin Li, Yan-Ran Zhao, Fa Yang, Ying Shi, Hui Rong, Zhi-San Cui, Jun-Yi Chen, Hong-Zhao Li, Chao Yan, Qipeng Zhang, Jian-Jun Wang, Xiao-Yang Zhang, Xiao-Ping Gu, Zheng-Liang Ma, Jing-Ning Zhu
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Gluten Ataxia: an Underdiagnosed Condition
Marios Hadjivassiliou, R. A. Grϋnewald
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A Breakdown of Immune Tolerance in the Cerebellum
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Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology
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Lorenzo Magrassi, Giulia Nato, Domenico Delia, Annalisa Buffo
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Zhang Weihua, Ren Haitao, Deng Jie, Ren Changhong, Zhou Ji, Zhou Anna, Guan Hongzhi, Ren Xiaotun
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Jing Lin, Min Zhu, Xiaocheng Mao, Zeqing Jin, Meihong Zhou, Daojun Hong
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Central Positional Nystagmus
Ana Inês Martins, André Jorge, João Lemos
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Paraneoplastic Ataxia: Antibodies at the Forefront Have Become Routine Biomarkers
Lazaros C. Triarhou, Mario Manto
The Cerebellum.2022; 22(4): 534. CrossRef
Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges
Marios Hadjivassiliou, Mario Manto, Hiroshi Mitoma
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Jiao Li, Bo Deng, Wenli Song, Keru Li, Jingwen Ai, Xiaoni Liu, Haocheng Zhang, Yi Zhang, Ke Lin, Guofu Shao, Chunfeng Liu, Wenhong Zhang, Xiangjun Chen, Yanlin Zhang
The Cerebellum.2022; 22(6): 1216. CrossRef
Evaluation and Management of Acute High-Grade Immunotherapy-Related Neurotoxicity
Marcelo Sandoval, Adriana H. Wechsler, Zahra Alhajji, Jayne Viets-Upchurch, Patricia A. Brock, Demis N. Lipe, Aisha Al-Buraiki, Sai-Ching Jim Yeung
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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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Abstract PDF Supplementary Material

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.

Citations

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A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT
Kalyan Kumar Jena, Sourav Kumar Bhoi, Debasis Mohapatra, Chittaranjan Mallick, Kshira Sagar Sahoo, Anand Nayyar
Wireless Networks.2023; 29(1): 247. CrossRef

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
Frontiers in Molecular Neuroscience.2023;[Epub] CrossRef
Next-Generation Sequencing Technologies and Neurogenetic Diseases
Hui Sun, Xiao-Rong Shen, Zi-Bing Fang, Zong-Zhi Jiang, Xiao-Jing Wei, Zi-Yi Wang, Xue-Fan Yu
Life.2021; 11(4): 361. CrossRef

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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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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Abstract PDF

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
Frontiers in Psychology.2020;[Epub] CrossRef

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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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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Hot cross bun sign
M. Portet, M. Filyridou, D. C. Howlett
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Paul Greene
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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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Tomography.2022; 8(1): 423. CrossRef
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Norlinah Mohamed Ibrahim
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Shunsuke Koga, Shan Ali, Matthew C. Baker, Klaas J. Wierenga, Michelle Dompenciel, Dennis W. Dickson, Zbigniew K. Wszolek
Parkinsonism & Related Disorders.2022; 105: 149. CrossRef
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins
Jun Sawada, Takayuki Katayama, Takashi Tokashiki, Shiori Kikuchi, Kohei Kano, Kae Takahashi, Tsukasa Saito, Yoshiki Adachi, Yuji Okamoto, Akiko Yoshimura, Hiroshi Takashima, Naoyuki Hasebe
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The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review
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Translational Neurodegeneration.2017;[Epub] CrossRef

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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285 Download
5 Web of Science
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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.

Citations

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Central nystagmus in progressive supranuclear palsy: A neglected clinical feature?
Maja Klarendic, Manja Hribar, Nina Bozanic Urbancic, Nina Zupancic, Milica G. Kramberger, Maja Trost, Saba Battelino, Diego Kaski, Maja Kojovic
Parkinsonism & Related Disorders.2021; 84: 15. CrossRef
“Parkinson’s disease” on the way to progressive supranuclear palsy: a review on PSP-parkinsonism
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Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia
Shoichiro Ando, Masato Kanazawa, Osamu Onodera
Journal of Movement Disorders.2020; 13(1): 20. CrossRef

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