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Author Notes:

Corresponding author. 650 West 168th Street, Room 305, New York, NY 10032, USA. sk3295@columbia.edu (S.-H. Kuo).

See publication for full list of author contributions.

Dr. Zesiewicz has served as a clinical advisor for Steminent Biotherapeutics, and she has received travel reimbursement from the department of neurology at University of Southern Florida; has received travel reimbursement for a Biohaven Pharmaceuticals meeting.

Dr. Zesiewicz has served on the editorial board for Neurodegenerative Disease Management and Tremor and other Hyperkinetic Movements, and has received research support for her division for approximately 20 clinical trials for Parkinson’s disease, Friedreich’s ataxia, and spinocerebellar ataxias.

Dr. Zesiewicz’s division is a site in a multi-site trial of Parkinson’s disease patients with the LRRK2 mutation and is sponsored by the National Institutes of Health but funded by Emory University.

The rest authors report no conflicts of interest.

Subject:

Research Funding:

The CRC-SCA natural history study is supported by the Rare Disease Clinical Research Network (RDCRN) (RC1NS068897), and the National Ataxia Foundation.

Dr. Kuo has received funding from NINDS K08 NS08738 (principal investigator), Louis V. Gerstner Jr. Scholar Award, Parkinson’s Disease Foundation, American Academy of Neurology Research Fellowship, American Parkinson’s Disease Association (PG008011), International Essential Tremor Foundation, NIEHS pilot award ES009089, and the Smart Foundation.

The natural history study of spinocerebellar ataxias is supported by the Rare Disease Clinical Research Network (RDCRN) (RC1NS068897).

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Clinical Neurology
  • Neurosciences & Neurology
  • Spinocerebellar ataxia
  • Dystonia
  • Trinucleotide repeat
  • Modifier
  • MACHADO-JOSEPH-DISEASE
  • MOVEMENT-DISORDERS
  • CEREBELLUM
  • TYPE-1
  • SUBTYPES
  • PROFILE
  • COHORT
  • GENES

Dystonia and ataxia progression in spinocerebellar ataxias

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Journal Title:

Parkinsonism and Related Disorders

Volume:

Volume 45

Publisher:

, Pages 75-80

Type of Work:

Article | Post-print: After Peer Review

Abstract:

Background Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known. Objectives To study clinical characteristics and ataxia progression in SCAs with and without dystonia. Methods We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and compared the clinical characteristics of SCAs with and without dystonia. We repeatedly measured ataxia progression by the Scale for Assessment and Rating of Ataxia every 6 months for 2 years. Regression models were employed to study the association between dystonia and ataxia progression after adjusting for age, sex and pathological CAG repeats. We used logistic regression to analyze the impact of different repeat expansion genes on dystonia in SCAs. Results Dystonia was most commonly observed in SCA3, followed by SCA2, SCA1, and SCA6. Dystonia was associated with longer CAG repeats in SCA3. The CAG repeat number in TBP normal alleles appeared to modify the presence of dystonia in SCA1. The presence of dystonia was associated with higher SARA scores in SCA1, 2, and 3. Although relatively rare in SCA6, the presence of dystonia was associated with slower progression of ataxia. Conclusions The presence of dystonia is associated with greater severity of ataxia in SCA1, 2, and 3, but predictive of a slower progression in SCA6. Complex genetic interactions among repeat expansion genes can lead to diverse clinical symptoms and progression in SCAs.

Copyright information:

© 2017 Elsevier Ltd

This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (http://creativecommons.org/licenses/by-nc-nd/4.0/).

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