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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 Rhu, Jin-Young Ahn, Jee-Young Lee, Seong-Beom Koh, Jae H. Park, Hee-Tae Kim
Received August 16, 2022  Accepted October 4, 2022  Published online December 20, 2022  
DOI: https://doi.org/10.14802/jmd.22137    [Epub ahead of print]
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  • 18 Download
AbstractAbstract PDFSupplementary 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 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
DOI: https://doi.org/10.14802/jmd.22069
  • 2,110 View
  • 299 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.
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
  • 8,074 View
  • 561 Download
  • 18 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
  • 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;[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
DOI: https://doi.org/10.14802/jmd.20082
  • 4,782 View
  • 93 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
  • 7,303 View
  • 369 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

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  • 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
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    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
  • 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
  • 4,558 View
  • 75 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
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
  • 7,019 View
  • 282 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
    Brain Imaging and Behavior.2022; 16(3): 1196.     CrossRef
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    Yiming Zheng, Xiwen Wang, Huajian Zhao, Yanyan Jiang, Ying Zhu, Jing Chen, Wei Sun, Zhaoxia Wang, Yunchuang Sun
    Frontiers in Neurology.2022;[Epub]     CrossRef
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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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    Amaia Muñoz-Lopetegi, Joan Berenguer, Alex Iranzo, Monica Serradell, Teresa Pujol, Carles Gaig, Esteban Muñoz, Eduard Tolosa, Joan Santamaría
    Sleep.2021;[Epub]     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
    Frontiers in Aging Neuroscience.2020;[Epub]     CrossRef
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    M. Portet, M. Filyridou, D. C. Howlett
    Journal of Neurology.2019; 266(10): 2573.     CrossRef
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    Paul Greene
    CONTINUUM: Lifelong Learning in Neurology.2019; 25(4): 919.     CrossRef
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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
  • 7,373 View
  • 195 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.

Citations

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    Mario Mascalchi
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    Norlinah Mohamed Ibrahim
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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
DOI: https://doi.org/10.14802/jmd.15006
  • 14,574 View
  • 217 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.

Citations

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  • Placebo response in degenerative cerebellar ataxias: a descriptive review of randomized, placebo-controlled trials
    Ji-Hyun Choi, Chaewon Shin, Han-Joon Kim, Beomseok Jeon
    Journal of Neurology.2022; 269(1): 62.     CrossRef
  • New Perspectives of Gene Therapy on Polyglutamine Spinocerebellar Ataxias: From Molecular Targets to Novel Nanovectors
    Fabiola V. Borbolla-Jiménez, María Luisa Del Prado-Audelo, Bulmaro Cisneros, Isaac H. Caballero-Florán, Gerardo Leyva-Gómez, Jonathan J. Magaña
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Case Report
A Case of Multiple System Atrophy-Cerebellar Type Preceded by Dementia
Eun Hye Jang, Joo Kyung Lee, Hyun Jung Jang, Mi-Jung Kim, Sun Ju Chung
J Mov Disord. 2012;5(2):48-52.
DOI: https://doi.org/10.14802/jmd.12011
  • 15,180 View
  • 89 Download
  • 3 Citations
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.

Citations

Citations to this article as recorded by  
  • Mitochondrial dysfunction and altered ribostasis in hippocampal neurons with cytoplasmic inclusions of multiple system atrophy
    Norihisa Maeda, Hiroyuki Honda, Satoshi O. Suzuki, Naoki Fujii, Jun-ichi Kira, Toru Iwaki
    Neuropathology.2018; 38(4): 361.     CrossRef
  • Mechanisms and prevention of sudden death in multiple system atrophy
    Takayoshi Shimohata, Naotaka Aizawa, Hideaki Nakayama, Hiroshige Taniguchi, Yasuyoshi Ohshima, Hitoshi Okumura, Tetsuya Takahashi, Akio Yokoseki, Makoto Inoue, Masatoyo Nishizawa
    Parkinsonism & Related Disorders.2016;[Epub]     CrossRef
  • Fragile X-associated tremor/ataxia syndrome: phenotypic comparisons with other movement disorders
    Erin E. Robertson, Deborah A. Hall, Andrew R. McAsey, Joan A. O’Keefe
    The Clinical Neuropsychologist.2016; 30(6): 849.     CrossRef
Review Article
MicroRNAs in Experimental Models of Movement Disorders
Soon-Tae Lee, Manho Kim
J Mov Disord. 2011;4(2):55-59.
DOI: https://doi.org/10.14802/jmd.11011
  • 27,399 View
  • 49 Download
  • 4 Citations
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.

Citations

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  • Rapid colorimetric analysis of multiple microRNAs using encoded hydrogel microparticles
    Ju Yeon Kim, Seok Joon Mun, Yoon Ho Roh, Ki Wan Bong
    The Analyst.2021; 146(18): 5508.     CrossRef
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Case Report
A Case of Genetically Confirmed Spinocerebellar Ataxia Type 8
Gyoungim Suh, Won Chan Kim, Myung Sik Lee
J Mov Disord. 2008;1(2):90-92.
DOI: https://doi.org/10.14802/jmd.08017
  • 45,589 View
  • 79 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.
DOI: https://doi.org/10.14802/jmd.08014
  • 33,107 View
  • 185 Download
AbstractAbstract PDF
Backgrounds:

Ataxia associated with Hashimoto’s thyroiditis autoantibodies has been reported as acquired cerebellar ataxia. However, relationship between anti-thyroid antibodies and cerebellar ataxia has not been clarified yet.

Objectives:

We aimed to analysis the relibility of serum anti-thyroid antibodies screening in the diagnosis of Parkinson’s disease (PD) and multiple system atrophy (MSA).

Method:

We enrolled 105 patients with clinically diagnosed PD and 75 patients with probable MSA. Patients with PD were classified into 70 patients with early PD (Hoehn & Yahr stage I to II) and 35 patients with late PD (Hoehn & Yahr stage III to IV). In MSA, 28 patients were classified as MSA-p (parkinsonism predominant) and 47 MSA-c (cerebellar predominant). For analysis of thyroid function, serum free triiodothyronine (T3), free thyroxine (T4), anti-thyroglobuline (TG) antibodies and anti-microsomal antibodies were measured. Cut-off level for abnormal titers of anti-thyroid antibodies were defiend as above 100 U/ml.

Results:

Abnormally high titer of serum anti-TG antibodies and anti-microsomal antibodies was more frequently observed in MSA than in PD (p =0.001 and 0.003, respectively). However, there was no significant difference in the frequency of abnormal titer either between MSA-c and MSA-p (p>0.05) nor between early PD and late PD (p>0.05). Among clinical parameters, only ataxia was correlated with both titer of anti-TG antibody and anti-microsomal antibody (p=0.007 and 0.002, respectively).

Conclusion:

These results suggest that high titer of anti-thyroid antibodies may be associated with MSA rather than PD and screening of serum anti-thyroid antibodies may be helpful for discrimiation of PD from MSA. However, anti-thyroid antibodies screening may not be helpful to differentiate MSA-c from MSA-p.


JMD : Journal of Movement Disorders