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The Two Faces of Pediatric SCA2.

Nicolas Rive Le Gouard1, Maissa G Bah1,2, Giulia Coarelli3

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Summary

Pediatric spinocerebellar ataxia type 2 (SCA2) presents with two distinct phenotypes in children, infantile and juvenile, based on CAG repeat size in the ATXN2 gene. Diagnosis can be achieved through targeted genetic testing, and maternal transmission is notable.

Keywords:
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Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Spinocerebellar ataxia type 2 (SCA2) is typically an adult-onset autosomal dominant neurodegenerative disorder.
  • Expanded CAG repeats in the ATXN2 gene are associated with pediatric onset of SCA2.
  • The natural history of pediatric SCA2 has not been comprehensively described.

Purpose of the Study:

  • To describe the natural history and clinical characteristics of spinocerebellar ataxia type 2 (SCA2) in pediatric patients.
  • To identify distinct phenotypic groups within pediatric SCA2.
  • To establish genetic parameters differentiating these groups.

Main Methods:

  • Analysis of clinical and genetic data from 22 pediatric SCA2 patients across 17 institutions.
  • Comparison with 20 previously reported pediatric SCA2 cases.
  • Genetic analysis focused on CAG repeat size in the ATXN2 gene.

Main Results:

  • Pediatric SCA2 exhibits a bimodal phenotype: an infantile group (n=9) with developmental delay, seizures, and atrophy, and a juvenile group (n=13) resembling adult-onset SCA2.
  • A CAG repeat threshold of 88±4 in ATXN2 distinguished the infantile from the juvenile group.
  • SCA2 was maternally inherited in 22% of cases, including three infantile presentations, and was independent of parental origin.

Conclusions:

  • Pediatric SCA2 has a recognizable bimodal phenotypic spectrum, distinct from the continuous spectrum of SCA7.
  • Targeted analysis of ATXN2 CAG repeat number facilitates diagnosis of pediatric SCA2.
  • Genetic counseling should address the significant rate of maternal transmission in pediatric SCA2.