Journal of Movement Disorders

Review Article

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

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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

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
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Brief communication

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India: Vikram Venkappayya Holla, Koti Neeraja, Albert Stezin, Shweta Prasad, Bharat Kumar Surisetti, Manjunath Netravathi, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2022;15(2):156-161. Published online March 16, 2022; DOI: https://doi.org/10.14802/jmd.21146

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Abstract PDF Supplementary Material

Objective
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
Methods
This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
Results
Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1–58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
Conclusion
CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.

Citations

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Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights
Burcu Atasu, Javier Simón-Sánchez, Hasmet Hanagasi, Basar Bilgic, Ann-Kathrin Hauser, Gamze Guven, Peter Heutink, Thomas Gasser, Ebba Lohmann
Journal of Medical Genetics.2024; : jmg-2022-109099. CrossRef
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Jong Hyeon Ahn, Ah Reum Kim, Woong-Yang Park, Jin Whan Cho, Jongkyu Park, Jinyoung Youn
Parkinsonism & Related Disorders.2023; 115: 105814. CrossRef

Original Article

The Non-Motor Symptom Profile of Progressive Supranuclear Palsy: Sudhakar Pushpa Chaithra, Shweta Prasad, Vikram Venkappayya Holla, Albert Stezin, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal; J Mov Disord. 2020;13(2):118-126. Published online April 6, 2020; DOI: https://doi.org/10.14802/jmd.19066

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Abstract PDF

Objective
Non-motor symptoms (NMSs) significantly contribute to increased morbidity and poor quality of life in patients with parkinsonian disorders. This study aims to explore the profile of NMSs in patients with progressive supranuclear palsy (PSP) using the validated Non-Motor Symptom Scale (NMSS).
Methods
Seventy-six patients with PSP were evaluated in this study. Motor symptoms and NMSs were evaluated using the PSP Rating Scale (PSPRS), Unified Parkinson’s Disease Rating Scale-III, Montreal Cognitive Assessment, Hamilton Depression (HAMD) and Anxiety Rating Scales, Parkinson’s Disease Sleep Scale (PDSS) and NMSS. NMS severity and prevalence were also compared between patients with PSP-Richardson syndrome (PSP-RS) and those with PSP-parkinsonism.
Results
All subjects in this cohort reported at least 2 NMSs. The most prevalent NMSs in patients with PSP were in the domains of sleep/fatigue, mood/cognition, and sexual function. The least prevalent NMSs were in the domains of cardiovascular including falls, and perceptual problems/hallucinations. Significant correlations were observed between the NMSS scores and HAM-D, PDSS, PSPRS scores and PSPRS sub-scores. The severity of NMSs was unrelated to the duration of illness. Patients with PSP-RS reported a higher severity of drooling, altered smell/taste, depression and altered interest in sex and a higher prevalence of sexual dysfunction.
Conclusion
NMSs are commonly observed in patients with PSP, and the domains of sleep, mood and sexual function are most commonly affected. These symptoms contribute significantly to disease morbidity, and clinicians should pay adequate attention to identifying and addressing these symptoms.

Citations

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Phenotypic Spectrum of Progressive Supranuclear Palsy: Clinical Study and Apolipoprotein E Effect
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Journal of Movement Disorders.2024; 17(2): 158. CrossRef
Differences in Progressive Supranuclear Palsy in Patients of Asian Ancestry?
Shen-Yang Lim, Azalea T. Pajo, Alfand Marl F. Dy Closas, JiaWei Hor, Tzi Shin Toh, Su Juen Ngim, Yi Zhe Lim, Ai Huey Tan
Parkinsonism & Related Disorders.2024; : 107162. CrossRef
Autonomic dysfunction in progressive supranuclear palsy
Francesca Baschieri, Maria Vitiello, Pietro Cortelli, Giovanna Calandra-Buonaura, Francesca Morgante
Journal of Neurology.2023; 270(1): 109. CrossRef
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Xin-Yi Li, Ming-Jia Chen, Xiao-Niu Liang, Rui-Xin Yao, Bo Shen, Bin Wu, Gen Li, Yi-Min Sun, Jian-Jun Wu, Feng-Tao Liu, Yu-Jie Yang, Jian Wang
Journal of Parkinson's Disease.2023; 13(1): 83. CrossRef
Non-motor symptoms in multiple system atrophy: A comparative study with Parkinson's disease and progressive supranuclear palsy
Wen-Zheng Hu, Ling-Xiao Cao, Jin-Hui Yin, Xue-Song Zhao, Ying-Shan Piao, Wei-Hong Gu, Jing-Hong Ma, Zhi-Rong Wan, Yue Huang
Frontiers in Neurology.2023;[Epub] CrossRef
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Noreen O’Shea, Shane Lyons, Stephen Higgins, Sean O’Dowd
Journal of Neurology.2023; 270(4): 2333. CrossRef
Structural correlates of survival in progressive supranuclear palsy
Duncan Street, W Richard Bevan-Jones, Maura Malpetti, P Simon Jones, Luca Passamonti, Boyd CP. Ghosh, Timothy Rittman, Ian TS. Coyle-Gilchrist, Kieren Allinson, Catherine E. Dawson, James B. Rowe
Parkinsonism & Related Disorders.2023; 116: 105866. CrossRef
Migraine and Tension-type Headache in Parkinson’s Disease and Progressive Supranuclear Palsy/Corticobasal Syndrome
Vinayak Jatale, Ashutosh Tiwari, Mritunjai Kumar, Ravi Gupta, Niraj Kumar
Annals of Indian Academy of Neurology.2023; 26(5): 708. CrossRef
A Systematic Review of Apathy and Depression in Progressive Supranuclear Palsy
Joshua Flavell, Peter J. Nestor
Journal of Geriatric Psychiatry and Neurology.2022; 35(3): 280. CrossRef
The Burden of Progressive Supranuclear Palsy on Patients, Caregivers, and Healthcare Systems by PSP Phenotype: A Cross-Sectional Study
Demetris Pillas, Alexander Klein, Teresa Gasalla, Andreja Avbersek, Alexander Thompson, Jack Wright, Jennifer Mellor, Anna Scowcroft
Frontiers in Neurology.2022;[Epub] CrossRef
Fatigue in hypokinetic, hyperkinetic, and functional movement disorders
Ilaria Antonella Di Vico, Giovanni Cirillo, Alessandro Tessitore, Mattia Siciliano, Massimo Venturelli, Cristian Falup-Pecurariu, Gioacchino Tedeschi, Francesca Morgante, Michele Tinazzi
Parkinsonism & Related Disorders.2021; 86: 114. CrossRef
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Rachel Rohmann, Eva Kühn, Raphael Scherbaum, Lovis Hilker, Saskia Kools, Leonard Scholz, Katharina Müller, Sophie Huckemann, Christiane Schneider-Gold, Ralf Gold, Kalliopi Pitarokoili, Lars Tönges, Eun Hae Kwon
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Jong Hyeon Ahn, Joomee Song, Dong Yeong Lee, Jinyoung Youn, Jin Whan Cho
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