The Two Faces of Pediatric SCA2.

doi:10.1111/ene.70314

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Article

The Two Faces of Pediatric SCA2.

European journal of neurology - 1 Aug 2025

Rive Le Gouard Nicolas, G Bah Maissa, Coarelli Giulia, Heinzmann Anna, Fauret Anne-Laure, de Sainte-Agathe Jean-Madeleine, Cazeneuve Cécile, Gerasimenko Anna, Gras Domitille, Capri Yline, Renaud Mathilde, Brais Bernard, Grenenko Cecile, Masurel Alice, Berquin Patrick, Jobic Florence, Métreau Julia, Deiva Kumaran, Afenjar Alexandra, Gravrand Victor, Lannuzel Annie, Anheim Mathieu, Geis Tobias, Hehr Ute, Madan Cohen Jennifer, Desnous Béatrice, J A Kievit Anneke, Bahi-Buisson Nadia, Rodriguez Diana, Renaldo Florence, Cances Claude, Devos David, Angelini Chloé, Goizet Cyril, Ewenczyk Claire, Durr Alexandra, Mignot Cyril

Abstract excerpt

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....

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Identifiers

PMID: 40741828
DOI: 10.1111/ene.70314
PMCID: PMC12311840

Genes

ATXN2

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