Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

Dusica Babovic-Vuksanovic, Karen Snow, Marc C. Patterson, Virginia V. Michels

Research output: Contribution to journalArticlepeer-review

79 Scopus citations


Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually between 20 and 40 years. We describe an infant who presented with neonatal hypotonia, developmental delay, and dysphagia. Ocular findings of retinitis pigmentosa were noted at 10 months. Her father had mild spinocerebellar ataxia first noted at age 22 years. Molecular studies of the SCA2 gene showed a CAG expansion of 43 repeats in the father and an extreme CAG repeat expansion of more than 200 in the baby. Our report expands the known phenotype and genotype of SCA2. Testing for dominant ataxias should be included in the evaluation of infants with nonspecific progressive neurologic symptoms and retinitis pigmentosa, especially in cases with a positive family history for spinocerebellar ataxia.

Original languageEnglish (US)
Pages (from-to)383-387
Number of pages5
JournalAmerican journal of medical genetics
Issue number5
StatePublished - Oct 12 1998


  • Autosomal dominant spinocerebellar ataxia
  • CAG repeat
  • Developmental delay
  • Retinitis pigmentosa
  • SCA2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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