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Updated: May 28, 2026

Cerebellar Regional Dissection for Molecular Analysis
08:51

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

Infantile childhood onset of spinocerebellar ataxia type 2

Roberto Di Fabio1, Filippo Santorelli, Enrico Bertini

  • 1Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Via Francesco Faggiana 34, Latina, Italy. rodifa@gmail.com

Cerebellum (London, England)
|October 7, 2011
PubMed

Insights

Spinocerebellar ataxia type 2 (SCA2) typically appears in adulthood. This case highlights early-onset SCA2 in a 1-year-old with unique symptoms, emphasizing the need for genetic testing.

Area of Science:

  • Genetics and Neurology
  • Pediatric Neurology
  • Neurodegenerative Diseases

Background:

  • Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder.
  • It is characterized by progressive cerebellar ataxia, typically with late-onset (30s).
  • SCA2 results from a CAG/CTG trinucleotide repeat expansion in the ATX2 gene.

Observation:

  • A 1-year-old girl presented with facial dysmorphism, dystonic features, developmental delay, and retinitis pigmentosa.
  • The patient carried an expanded CAG/CTG tract of 92 repeats.
  • Her father was later molecularly diagnosed with SCA2.

Findings:

  • This case demonstrates a rare pediatric onset of Spinocerebellar ataxia type 2 (SCA2).
  • The patient exhibited a severe triplet expansion (92 repeats), correlating with early-onset disease.
  • The clinical presentation included facial dysmorphism, developmental delay, and retinitis pigmentosa, atypical for typical SCA2 onset.

Implications:

  • Early childhood symptoms like facial dysmorphism, developmental delay, and retinitis pigmentosa should raise suspicion for SCA2.
  • A thorough family history and ATX2 gene analysis are crucial for diagnosing atypical pediatric SCA2 cases.
  • This case expands the phenotypic spectrum of SCA2 and highlights the importance of genetic investigation in early-onset neurodegenerative disorders.

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