Infantile childhood onset of spinocerebellar Ataxia type 2

Roberto Di Fabio, Filippo Santorelli, Enrico Bertini, Martina Balestri, Laura Cursi, Alessandra Tessa, Francesco Pierelli, Carlo Casali

Research output: Contribution to journalArticlepeer-review

Abstract

Spinocerebellar ataxia type 2 (SCA2) is a lateonset autosomal dominant cerebellar ataxia caused by triplet CAG/CTG expansion in the ATX2 gene. The initial symptoms usually appear when subjects are in their 30s. Pediatric onset is less common and usually associated with larger triplet expansions. We here report the case of a 1- year-old girl who presented with facial dysmorphism, dystonic features, developmental delay, and retinitis pigmentosa. She was diagnosed as carrying an expanded CAG/ CTG tract (92 repeats) before a molecular diagnosis of SCA2 was made in her father. Facial dysmorphism associated with developmental delay and retinitis pigmentosa in early childhood should prompt a careful family investigation for ataxia and study of ATX2.

Original languageEnglish
Pages (from-to)526-530
Number of pages5
JournalCerebellum
Volume11
Issue number2
DOIs
Publication statusPublished - Jun 2012

Keywords

  • Autosomal dominant cerebellar ataxia
  • Early childhood
  • Facial dysmorphism
  • Spinocerebellar ataxia type 2

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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