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The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3.


ABSTRACT:

Background

For a variety of sporadic neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease and amyotrophic lateral sclerosis, it is well-established that ethnicity does affect the disease phenotypes. However, how ethnicity contributes to the clinical symptoms and disease progressions in monogenetic disorders, such as spinocerebellar ataxia type 3 (SCA3), remains less studied.

Methods

We used multivariable linear and logistical regression models in 257 molecularly-confirmed SCA3 patients (66 Caucasians, 43 African Americans, and 148 Asians [composed of 131 Chinese and 17 Asian Americans]) to explore the influence of ethnicity on age at onset (AAO), ataxia severity, and non-ataxia symptoms (i.e. depression, tremor, and dystonia).

Results

We found t

SUBMITTER: Gan SR 

PROVIDER: S-EPMC7160000 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature