Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccades.

ABSTRACT:

Background

The presence of more than one polyQ-related gene within a single individual is a rare incidence, which may provide the potential opportunity to study the combined effects of these spinocerebellar ataxia (SCA) genes.

Methods

We retrospectively analyzed genetic data from 112 SCA3 probands and found Patient 1 harbored expanded ATXN2 allele (33 repeats) and intermediate TBP allele (41 repeats), and Patient 2 with intermediate ATXN2 allele (32 repeats). Detailed clinical and oculomotor performances were investigated. The age at onset and oculomotor parameters of both patients were compared with matched pure SCA3 groups controlling either disease severity or CAG repeats.

Results

Most of the clinical phenotypes and oculomotor characteristics of these two patients

SUBMITTER: Wu C 

PROVIDER: S-EPMC6565543 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature