The Two Faces of Pediatric SCA2.

ABSTRACT:

Introduction

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurological disease usually described in adults. Expanded CAG repeats in the ATXN2 gene can lead to pediatric onset. This study aims to describe the natural history of SCA2 in children.

Methods

We analyzed clinical and genetic data from 22 children with SCA2 across 17 institutions and compared them to 20 previously reported cases.

Results

The phenotype of pediatric SCA2 can be divided into two distinct groups based on CAG repeat size and age. In the infantile group (n = 9), developmental delay and seizures were prominent features, along with cerebellar and cerebral atrophy. In the juvenile group (n = 13), the disease was a cerebellar degeneration similar to adults. A threshold of 88 ± 4 CAG re

SUBMITTER: Rive Le Gouard N 

PROVIDER: S-EPMC12311840 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature