Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.

ABSTRACT:

Background

Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. The GGC repeat expansion in ZFHX3, responsible for spinocerebellar ataxia type 4 (SCA4), has only been described in individuals of Northern Europeandescent.

Objective

Uncover the genetic etiology of suspected hereditary movement disorders.

Methods

We performed Oxford Nanopore long-read genome sequencing on 15 individuals with suspected hereditary movement disorders. Using variant calling and ancestry inference tools.

Results

We identified ZFHX3 GGC expansions (47-55 repeats) in 4 patients with progressive ataxia, polyneuropathy, and vermis atrophy. One presented with rapidly progressive parkinsonism-ataxia, expanding the known phe

SUBMITTER: Saffie-Awad P 

PROVIDER: S-EPMC12273613 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature