Phenotypic variance in monozygotic twins with SCA3.

ABSTRACT:

Background

Spinocerebellar ataxia type 3 (SCA3) is a hereditary neurodegenerative disorder with high clinical heterogeneity. Twin study is valuable to estimate the contributions of gene and/or environment to phenotypic variance. However, SCA3 twins were extremely sparse and rarely reported.

Methods

A pair of monozygotic twins with SCA3 was assessed using well-acknowledged scales. Genetic modifiers and methylation levels were determined by Sanger sequencing and pyrosequencing.

Results

Sharing identical CAG repeat lengths, the twins presented with similar symptoms, whereas, the younger sister had an earlier age at onset of two years. The occurrence time and severity of constipation, blepharospasm and fasciculation were markedly different between the twins. Notable methy

SUBMITTER: Zhao H 

PROVIDER: S-EPMC7549591 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature