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14 "Cerebellar ataxia"
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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
  • 1,460 View
  • 95 Download
AbstractAbstract PDFSupplementary 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
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  • 95 Download
AbstractAbstract PDFSupplementary Material
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.
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.
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.
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 Articles
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
  • 6,167 View
  • 511 Download
  • 3 Web of Science
  • 3 Crossref
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.


Citations to this article as recorded by  
  • 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
  • Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India
    Vikram V. Holla, Sandeep Gurram, Sneha D. Kamath, Gautham Arunachal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
    Journal of Movement Disorders.2024; 17(2): 220.     CrossRef
  • Rehabilitation in ataxia
    Anupam Gupta, NavinB Prakash, Hafis Rahman
    Indian Journal of Physical Medicine & Rehabilitation.2023; 33(1): 21.     CrossRef
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
  • 22,569 View
  • 749 Download
  • 26 Web of Science
  • 33 Crossref
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 to this article as recorded by  
  • Different Purkinje cell pathologies cause specific patterns of progressive gait ataxia in mice
    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
    Brain Sciences.2024; 14(2): 176.     CrossRef
  • 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; 37(3): 322.     CrossRef
  • Paraneoplastic Cerebellar Ataxia: A Case Report and Literature Review
    静 刘
    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
    World Journal of Clinical Cases.2024; 12(12): 2031.     CrossRef
  • Clinical Presentation, Management, and Diagnostic Performance of 2021 Criteria for Paraneoplastic Neurologic Syndromes in Childhood
    Ji Zhou, Mei Jin, Yan Su, Xiuwei Zhuo, Libing Fu, Xiaotun Ren, Changhong Ren, Anna Zhou, Jiuwei Li, Weihua Zhang
    Neurology Neuroimmunology & Neuroinflammation.2024;[Epub]     CrossRef
  • Autoimmunologische Kleinhirnerkrankungens
    Niklas Vogel, Christian Hartmann, Sven Meuth, Nico Melzer
    Nervenheilkunde.2023; 42(01/02): 73.     CrossRef
  • Evaluation and management of acute high-grade immunotherapy-related neurotoxicity
    Marcelo Sandoval, Adriana H. Wechsler, Zahra Alhajji, Jayne Viets-Upchurch, Patricia Brock, Demis N. Lipe, Aisha Al-breiki, Sai-Ching J. Yeung
    Heliyon.2023; 9(3): e13725.     CrossRef
  • Consensus Paper: Latent Autoimmune Cerebellar Ataxia (LACA)
    Mario Manto, Marios Hadjivassiliou, José Fidel Baizabal-Carvallo, Christiane S Hampe, Jerome Honnorat, Bastien Joubert, Hiroshi Mitoma, Sergio Muñiz-Castrillo, Aasef G. Shaikh, Alberto Vogrig
    The Cerebellum.2023; 23(2): 838.     CrossRef
  • 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
    Pharmacological Research.2023; 191: 106773.     CrossRef
  • Immune-related adverse events and immune checkpoint inhibitors: a focus on neurotoxicity and clinical management
    Rosanna Ruggiero, Raffaella Di Napoli, Nunzia Balzano, Donatella Ruggiero, Consiglia Riccardi, Antonietta Anatriello, Andrea Cantone, Liberata Sportiello, Francesco Rossi, Annalisa Capuano
    Expert Review of Clinical Pharmacology.2023; 16(5): 423.     CrossRef
  • Immune-mediated ataxias: Guide to clinicians
    Alex T. Meira, Marianna P.M. de Moraes, Matheus G. Ferreira, Gustavo L. Franklin, Flávio M. Rezende Filho, Hélio A.G. Teive, Orlando G.P. Barsottini, José Luiz Pedroso
    Parkinsonism & Related Disorders.2023; 117: 105861.     CrossRef
  • 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; 22(1): 129.     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; 22(4): 534.     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
  • Immunotherapies for the Effective Treatment of Primary Autoimmune Cerebellar Ataxia: a Case Series
    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
    SSRN Electronic Journal .2022;[Epub]     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 Report
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
  • 6,262 View
  • 107 Download
  • 2 Web of Science
  • 2 Crossref
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 to this article as recorded by  
  • 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
  • 10,205 View
  • 427 Download
  • 17 Web of Science
  • 18 Crossref
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 to this article as recorded by  
  • Progressive supranuclear palsy: A case report and brief review of the literature
    Vivek Batheja, Morgan Fish, Aneri B. Balar, Jeffery P. Hogg, Dhairya A. Lakhani, Musharaf Khan
    Radiology Case Reports.2024; 19(1): 250.     CrossRef
  • Assessment of [18F]PI-2620 Tau-PET Quantification via Non-Invasive Automatized Image Derived Input Function
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    European Journal of Nuclear Medicine and Molecular Imaging.2024;[Epub]     CrossRef
  • The Role of the Cerebellum in Swallowing
    Ayodele Sasegbon, Shaheen Hamdy
    Dysphagia.2023; 38(2): 497.     CrossRef
  • Ataxias: Hereditary, Acquired, and Reversible Etiologies
    Chi-Ying R. Lin, Sheng-Han Kuo
    Seminars in Neurology.2023; 43(01): 048.     CrossRef
  • Progressive supranuclear palsy: current approach and challenges to diagnosis and treatment
    Ariane Veilleux Carpentier, Nikolaus R. McFarland
    Current Opinion in Neurology.2023; 36(4): 309.     CrossRef
  • 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
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    Hae-Won Shin, Sang-Wook Hong, Young Chul Youn
    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
  • 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; 22(6): 1098.     CrossRef
  • Progressive Supranuclear Palsy in 2022: recent developments and an eye to the future
    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
  • 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
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    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
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    Maria Stamelou, Gesine Respondek, Nikolaos Giagkou, Jennifer L. Whitwell, Gabor G. Kovacs, Günter U. Höglinger
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    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
  • 5,878 View
  • 86 Download
  • 2 Web of Science
  • 2 Crossref
AbstractAbstract PDF
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.
Clinical data, lumbar X-rays and BMD data were obtained in 30 patients with MJD.
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.
Low BMD and fractures are frequent among MJD patients, and careful management of BMD may be beneficial for these patients.


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;[Epub]     CrossRef
  • Effects of Neurological Disorders on Bone Health
    Ryan R. Kelly, Sara J. Sidles, Amanda C. LaRue
    Frontiers in Psychology.2020;[Epub]     CrossRef
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
  • 8,886 View
  • 318 Download
  • 17 Web of Science
  • 20 Crossref
AbstractAbstract PDF
To clarify the specificity of the ‘hot cross bun’ sign (HCBS) for multiple system atrophy (MSA) in adult cerebellar ataxia or parkinsonism.
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.
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).
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 to this article as recorded by  
  • Progressive supranuclear palsy: A case report and brief review of the literature
    Vivek Batheja, Morgan Fish, Aneri B. Balar, Jeffery P. Hogg, Dhairya A. Lakhani, Musharaf Khan
    Radiology Case Reports.2024; 19(1): 250.     CrossRef
  • A case of bilateral middle cerebellar peduncle infarction with hot cross bun sign
    Daisuke Kuzume, Yuko Morimoto, Satoshi Tsutsumi, Masahiro Yamasaki, Naohisa Hosomi
    Rinsho Shinkeigaku.2024; 64(3): 190.     CrossRef
  • 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
  • Food for Thought: A Review of Neuroradiographic Signs Inspired by Food
    C.T. Zoppo, T. Taros, J. Singh, A.S. Puri, A.L. Kuhn
    Neurographics.2024; 14(1): 29.     CrossRef
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    Sanskriti Sasikumar, Antonio P. Strafella
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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
  • 9,136 View
  • 208 Download
  • 4 Web of Science
  • 5 Crossref
AbstractAbstract PDF
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.
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.
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).
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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Review Article
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
  • 16,413 View
  • 230 Download
  • 15 Web of Science
  • 14 Crossref
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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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.
  • 16,855 View
  • 92 Download
  • 4 Crossref
AbstractAbstract 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.


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MicroRNAs in Experimental Models of Movement Disorders
Soon-Tae Lee, Manho Kim
J Mov Disord. 2011;4(2):55-59.
  • 30,145 View
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AbstractAbstract 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.


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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.
  • 46,378 View
  • 86 Download
AbstractAbstract 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.
  • 34,237 View
  • 190 Download
AbstractAbstract PDF

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.


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).


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.


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).


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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