The Initial Symptom and Motor Progression in Spinocerebellar Ataxias

Lan Luo, Jie Wang, Raymond Y. Lo, Karla P. Figueroa, Stefan M. Pulst, Pei Hsin Kuo, Susan Perlman, George Wilmot, Christopher M. Gomez, Jeremy D. Schmahmann, Henry Paulson, Vikram G. Shakkottai, Sarah H. Ying, Theresa Zesiewicz, Khalaf Bushara, Michael Geschwind, Guangbin Xia, S. H. Subramony, Tetsuo Ashizawa, Sheng Han Kuo

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of this study is to determine whether the initial symptom associates with motor progression in spinocerebellar ataxias (SCAs). SCAs are clinically heterogeneous and the initial presentation may represent different subtypes of SCA with different motor progression. We studied 317 participants with SCAs1, 2, 3, and 6 from the Clinical Research Consortium for SCAs (CRC-SCA) and repeatedly measured the severity of ataxia for 2 years. SCA patients were divided into gait-onset and non-gait-onset (speech, vision, and hand dexterity) groups based on the initial presentation. In addition to demographic comparison, we employed regression models to study ataxia progression in these two groups after adjusting for age, sex, and pathological CAG repeats. The majority of SCA patients had gait abnormality as an initial presentation. The pathological CAG repeat expansions were similar between the gait-onset and non-gait-onset groups. In SCA1, gait-onset group progressed slower than non-gait-onset group, while gait-onset SCA6 group progressed faster than their counterpart. In addition, the disease presented 9 years later for SCA2 gait-onset group than non-gait-onset group. Initial symptoms of SCA3 did not influence age of onset or disease progression. The initial symptom in each SCA has a different influence on age of onset and motor progression. Therefore, gait and non-gait-onset groups of SCAs might represent different subtypes of the diseases.

Original languageEnglish (US)
Pages (from-to)615-622
Number of pages8
JournalCerebellum
Volume16
Issue number3
DOIs
StatePublished - Jun 1 2017

Keywords

  • Cerebellum
  • Neurodegeneration
  • Spinocerebellar ataxias
  • Subtypes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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