Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Cerebellum. 2020 Feb;19(1):161-163. doi: 10.1007/s12311-019-01085-7.

Abstract

Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.

Keywords: Ataxic cerebral palsy; Cerebral palsy; Spinocerebellar ataxia.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / complications*
  • Ataxia / diagnostic imaging*
  • Ataxia / genetics
  • Cerebral Palsy / complications*
  • Cerebral Palsy / diagnostic imaging*
  • Cerebral Palsy / genetics
  • Genetic Diseases, Inborn / complications*
  • Genetic Diseases, Inborn / diagnostic imaging*
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Infant
  • Male
  • Spinocerebellar Ataxias / complications*
  • Spinocerebellar Ataxias / diagnostic imaging*
  • Spinocerebellar Ataxias / genetics

Supplementary concepts

  • Cerebral Palsy, Ataxic, Autosomal Recessive