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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
  • 1,626 View
  • 249 Download
AbstractAbstract 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.
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
  • 1,349 View
  • 183 Download
AbstractAbstract PDFSupplementary 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.
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
  • 2,318 View
  • 80 Download
  • 2 Citations
AbstractAbstract PDFSupplementary 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

Citations to this article as recorded by  
  • 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
  • 4,870 View
  • 158 Download
  • 6 Citations
AbstractAbstract PDFSupplementary 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

Citations to this article as recorded by  
  • 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
  • 7,216 View
  • 536 Download
  • 17 Citations
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • Gluten Ataxia: an Underdiagnosed Condition
    Marios Hadjivassiliou, R. A. Grϋnewald
    The Cerebellum.2022; 21(4): 620.     CrossRef
  • Clinical Problem Solving: Decreased Level of Consciousness and Unexplained Hydrocephalus
    Naomi Niznick, Ronda Lun, Daniel A. Lelli, Tadeu A. Fantaneanu
    The Neurohospitalist.2022; 12(2): 312.     CrossRef
  • Pharmacotherapy of cerebellar and vestibular disorders
    João Lemos, Mario Manto
    Current Opinion in Neurology.2022; 35(1): 118.     CrossRef
  • Advances in the Pathogenesis of Auto-antibody-Induced Cerebellar Synaptopathies
    Hiroshi Mitoma, Mario Manto
    The Cerebellum.2022;[Epub]     CrossRef
  • A Breakdown of Immune Tolerance in the Cerebellum
    Christiane S. Hampe, Hiroshi Mitoma
    Brain Sciences.2022; 12(3): 328.     CrossRef
  • Acute Cerebellar Inflammation and Related Ataxia: Mechanisms and Pathophysiology
    Md. Sorwer Alam Parvez, Gen Ohtsuki
    Brain Sciences.2022; 12(3): 367.     CrossRef
  • A Case Report of Anti-PCA-2-Positive Autoimmune Cerebellitis
    霞 董
    Advances in Clinical Medicine.2022; 12(04): 3272.     CrossRef
  • Cell-Autonomous Processes That Impair Xenograft Survival into the Cerebellum
    Lorenzo Magrassi, Giulia Nato, Domenico Delia, Annalisa Buffo
    The Cerebellum.2022; 21(5): 821.     CrossRef
  • Diagnosis and Clinical Features in Autoimmune-Mediated Movement Disorders
    Pei-Chen Hsieh, Yih-Ru Wu
    Journal of Movement Disorders.2022; 15(2): 95.     CrossRef
  • Autoimmune cerebellar ataxia associated with anti-leucine-rich glioma-inactivated protein 1 antibodies: Two pediatric cases
    Zhang Weihua, Ren Haitao, Deng Jie, Ren Changhong, Zhou Ji, Zhou Anna, Guan Hongzhi, Ren Xiaotun
    Journal of Neuroimmunology.2022; 370: 577918.     CrossRef
  • Anti-dipeptidyl-peptidase-like protein 6 encephalitis with pure cerebellar ataxia: a case report
    Jing Lin, Min Zhu, Xiaocheng Mao, Zeqing Jin, Meihong Zhou, Daojun Hong
    BMC Neurology.2022;[Epub]     CrossRef
  • Central Positional Nystagmus
    Ana Inês Martins, André Jorge, João Lemos
    Current Treatment Options in Neurology.2022; 24(10): 453.     CrossRef
  • Paraneoplastic Ataxia: Antibodies at the Forefront Have Become Routine Biomarkers
    Lazaros C. Triarhou, Mario Manto
    The Cerebellum.2022;[Epub]     CrossRef
  • Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges
    Marios Hadjivassiliou, Mario Manto, Hiroshi Mitoma
    Brain Sciences.2022; 12(9): 1165.     CrossRef
  • Paraneoplastic syndromes in neuro-ophthalmology
    SimonJ Hickman
    Annals of Indian Academy of Neurology.2022; 25(8): 101.     CrossRef
  • Stiff-Eye Syndrome—Anti-GAD Ataxia Presenting with Isolated Ophthalmoplegia: A Case Report
    Abel Dantas Belém, Thaís de Maria Frota Vasconcelos, Rafael César dos Anjos de Paula, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Isabelle de Sousa Pereira, Paulo Roberto de Arruda Tavares, Gabriela Studart Galdino, Daniel Aguiar Dia
    Brain Sciences.2021; 11(7): 932.     CrossRef
  • Update on Paraneoplastic Cerebellar Degeneration
    Philipp Alexander Loehrer, Lara Zieger, Ole J. Simon
    Brain Sciences.2021; 11(11): 1414.     CrossRef
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
  • 3,507 View
  • 118 Download
  • 1 Citations
AbstractAbstract PDFSupplementary 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

Citations to this article as recorded by  
  • 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.2022;[Epub]     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
  • 4,581 View
  • 89 Download
  • 1 Citations
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • 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
  • 6,867 View
  • 353 Download
  • 12 Citations
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • Deciphering the saccade velocity profile of progressive supranuclear palsy: A sign of latent cerebellar/brainstem dysfunction?
    Yasuo Terao, Shin-ichi Tokushige, Satomi Inomata-Terada, Hideki Fukuda, Akihiro Yugeta, Yoshikazu Ugawa
    Clinical Neurophysiology.2022; 141: 147.     CrossRef
  • Parkinsonism and ataxia
    Giulia Franco, Giulia Lazzeri, Alessio Di Fonzo
    Journal of the Neurological Sciences.2022; 433: 120020.     CrossRef
  • Differential Diagnosis of Rare Subtypes of Progressive Supranuclear Palsy and PSP-Like Syndromes—Infrequent Manifestations of the Most Common Form of Atypical Parkinsonism
    Patrycja Krzosek, Natalia Madetko, Anna Migda, Bartosz Migda, Dominika Jaguś, Piotr Alster
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • Clinical Aspects of the Differential Diagnosis of Parkinson’s Disease and Parkinsonism
    Hae-Won Shin, Sang-Wook Hong, Young Chul Youn
    Journal of Clinical Neurology.2022; 18(3): 259.     CrossRef
  • Clinical Spectrum of Tauopathies
    Nahid Olfati, Ali Shoeibi, Irene Litvan
    Frontiers in Neurology.2022;[Epub]     CrossRef
  • Toward More Accessible Fully Automated 3D Volumetric MRI Decision Trees for the Differential Diagnosis of Multiple System Atrophy, Related Disorders, and Age-Matched Healthy Subjects
    Jisoo Kim, Geoffrey S. Young, Andrew S. Willett, Ariana T. Pitaro, Grace F. Crotty, Merlyne Mesidor, Kristie A. Jones, Camden Bay, Min Zhang, Mel B. Feany, Xiaoyin Xu, Lei Qin, Vikram Khurana
    The Cerebellum.2022;[Epub]     CrossRef
  • The Role of the Cerebellum in Swallowing
    Ayodele Sasegbon, Shaheen Hamdy
    Dysphagia.2021;[Epub]     CrossRef
  • Cerebellar ataxia in progressive supranuclear palsy: a clinico-pathological case report
    David Crosiers, Anne Sieben, Sarah Ceyssens, Paul M. Parizel, Jonathan Baets
    Acta Neurologica Belgica.2021; 121(2): 599.     CrossRef
  • Progressive supranuclear palsy
    N.V. Fedorova, E.V. Bril, T.K. Kulua, A.D. Mikhaylova
    Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova.2021; 121(5): 111.     CrossRef
  • Case 20-2021: A 69-Year-Old Man with Ataxia
    Richard C. Cabot, Eric S. Rosenberg, David M. Dudzinski, Meridale V. Baggett, Kathy M. Tran, Dennis C. Sgroi, Jo-Anne O. Shepard, Emily K. McDonald, Tara Corpuz, Vikram Khurana, Claudio M. de Gusmao, McKinley Glover, Jeffrey Helgager
    New England Journal of Medicine.2021; 385(2): 165.     CrossRef
  • Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies
    Maria Stamelou, Gesine Respondek, Nikolaos Giagkou, Jennifer L. Whitwell, Gabor G. Kovacs, Günter U. Höglinger
    Nature Reviews Neurology.2021; 17(10): 601.     CrossRef
  • Tauopathy and Movement Disorders—Unveiling the Chameleons and Mimics
    Jacky Ganguly, Mandar Jog
    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
  • 4,368 View
  • 74 Download
  • 2 Citations
AbstractAbstract 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.

Citations

Citations to this article as recorded by  
  • 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; 8(5): e200021.     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
  • 12,234 View
  • 750 Download
  • 20 Citations
AbstractAbstract PDFSupplementary 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.

Citations

Citations to this article as recorded by  
  • Head-impulse tests aid in differentiation of multiple system atrophy from Parkinson’s disease
    Jae-Gyum Kim, Sung-Hwan Kim, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
    Journal of Neurology.2022; 269(6): 2972.     CrossRef
  • Overt Oculomotor Behavior Reveals Covert Temporal Predictions
    Alessandro Tavano, Sonja A. Kotz
    Frontiers in Human Neuroscience.2022;[Epub]     CrossRef
  • Eye tracking identifies biomarkers in α-synucleinopathies versus progressive supranuclear palsy
    Mahboubeh Habibi, Wolfgang H. Oertel, Brian J. White, Donald C. Brien, Brian C. Coe, Heidi C. Riek, Julia Perkins, Rachel Yep, Laurent Itti, Lars Timmermann, Christoph Best, Elisabeth Sittig, Annette Janzen, Douglas P. Munoz
    Journal of Neurology.2022; 269(9): 4920.     CrossRef
  • A Case of AOA2 With Compound Heterozygous SETX Mutations
    Hee Jin Chang, Ryul Kim, Minchae Kim, Jangsup Moon, Man Jin Kim, Han-Joon Kim
    Journal of Movement Disorders.2022; 15(2): 178.     CrossRef
  • Reading Warm-Up, Reading Skill, and Reading Prosody When Reading the My Grandfather Passage: An Exploratory Study Born Out of the Motor Planning Theory of Prosody and Reading Prosody Research
    Frank Boutsen, Eunsun Park, Justin D. Dvorak
    Journal of Speech, Language, and Hearing Research.2022; 65(6): 2047.     CrossRef
  • Eye movement abnormalities in neurodegenerative langerhans cell histiocytosis
    Lila Autier, Bertrand Gaymard, Eléonore Bayen, Antoine Del Cul, Fleur Cohen-Aubart, Nadine Martin-Duverneuil, Julien Haroche, Karima Mokhtari, Sébastien Héritier, Jean Donadieu, Khê Hoang-Xuan, Ahmed Idbaih
    Neurological Sciences.2022; 43(11): 6539.     CrossRef
  • Multiple step saccades in simply reactive saccades could serve as a complementary biomarker for the early diagnosis of Parkinson’s disease
    Wenbo Ma, Min Li, Junru Wu, Zhihao Zhang, Fangfang Jia, Mingsha Zhang, Hagai Bergman, Xuemei Li, Zhipei Ling, Xin Xu
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • The effects of age and sex on the incidence of multiple step saccades and corrective saccades
    Wenbo Ma, Mingsha Zhang
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • Oculomotor impairments in de novo Parkinson’s disease
    Meng-Xi Zhou, Qin Wang, Yin Lin, Qian Xu, Li Wu, Ya-Jing Chen, Yu-Han Jiang, Qing He, Lei Zhao, You-Rong Dong, Jian-Ren Liu, Wei Chen
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • Smartphone video nystagmography using convolutional neural networks: ConVNG
    Maximilian U. Friedrich, Erich Schneider, Miriam Buerklein, Johannes Taeger, Johannes Hartig, Jens Volkmann, Robert Peach, Daniel Zeller
    Journal of Neurology.2022;[Epub]     CrossRef
  • Eye movement especially vertical oculomotor impairment as an aid to assess Parkinson’s disease
    JianYuan Zhang, Bin Zhang, QingGuo Ren, Qing Zhong, Ye Li, GuoTao Liu, XiaoTian Ma, CuiPing Zhao
    Neurological Sciences.2021; 42(6): 2337.     CrossRef
  • Abnormalities of smooth pursuit in Parkinson’s disease: A systematic review
    Karen Frei
    Clinical Parkinsonism & Related Disorders.2021; 4: 100085.     CrossRef
  • 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
  • Analysis of vertical eye movements in Parkinson’s disease and its potential for diagnosis
    Sajjad Farashi
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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
  • 6,685 View
  • 276 Download
  • 10 Citations
AbstractAbstract 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).

Citations

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  • Mapping cortical disease-burden at individual-level in frontotemporal dementia: implications for clinical care and pharmacological trials
    Mary Clare McKenna, Marlene Tahedl, Jasmin Lope, Rangariroyashe H. Chipika, Stacey Li Hi Shing, Mark A. Doherty, Jennifer C. Hengeveld, Alice Vajda, Russell L. McLaughlin, Orla Hardiman, Siobhan Hutchinson, Peter Bede
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  • The “Black Straight-Line Sign” in the Putamen in Diffusion-Weighted Imaging: A Potential Diagnostic MRI Marker for Multiple System Atrophy
    Yiming Zheng, Xiwen Wang, Huajian Zhao, Yanyan Jiang, Ying Zhu, Jing Chen, Wei Sun, Zhaoxia Wang, Yunchuang Sun
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    Hung-Chieh Chen, Li-Hua Lee, Jiing-Feng Lirng, Bing-wen Soong
    Scientific Reports.2022;[Epub]     CrossRef
  • The “Hot Cross Bun Sign” in Spinocerebellar Ataxia Types 2 and 7–Case Reports and Review of Literature
    Ansuya Kasavelu Naidoo, Cait‐Lynn Deanne Wells, Yashvir Rugbeer, Neil Naidoo
    Movement Disorders Clinical Practice.2022; 9(8): 1105.     CrossRef
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    Inna Page, Frank Gaillard
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    Shuzhen Zhu, Hualing Li, Bin Deng, Jialing Zheng, Zifeng Huang, Zihan Chang, Yanjun Huang, Zhibo Wen, Yanran Liang, Mengjue Yu, Ling-Ling Chan, Eng-King Tan, Qing Wang
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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
  • 7,141 View
  • 194 Download
  • 5 Citations
AbstractAbstract 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
  • 9,372 View
  • 251 Download
  • 3 Citations
AbstractAbstract PDFSupplementary 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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  • 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
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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
  • 19,998 View
  • 795 Download
  • 45 Citations
AbstractAbstract 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
  • 14,351 View
  • 215 Download
  • 13 Citations
AbstractAbstract 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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JMD : Journal of Movement Disorders