Repeat length in spinocerebellar ataxia type 4 (SCA4) predicts age at onset and disease severity.

ABSTRACT:

Background

Recently, an exonic GGC repeat expansion (RE) was identified by long-read genome sequencing in the ZFHX3 gen, causing spinocerebellar ataxia type 4 (SCA4), a dominant form of ataxia with sensory neuropathy. However, the analysis of larger cohorts of patients remained demanding, resulting in a challenge to diagnose patients and leaving the question of anticipation in SCA4 unanswered.

Objectives

We aimed to develop a GGC repeat test for clinical SCA4 screening and to apply this test to screen two large German SCA pedigrees and samples of unrelated patients collected over the last 25 years.

Methods

We modulated a commercial GGC-RE kit (Bio-Techne AmplideX^® Asuragen^® PCR/CE FMR1 Reagents) with ZFHX3-specific primers and adapted PCR conditi

SUBMITTER: Dalski A 

PROVIDER: S-EPMC11377680 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature