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A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2
  1. Andrea Zonta1,
  2. Alessandro Brussino2,
  3. Patrizia Dentelli2 and
  4. Alfredo Brusco1,2
  1. 1Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy
  2. 2Department Medical Sciences, University of Turin, Torino, Italy
  1. Correspondence to Professor Alfredo Brusco; alfredo.brusco{at}unito.it

Abstract

A 4-year-old girl was referred to the geneticist with a history of ataxia associated with intention tremor of the hands, strabismus and hypermetropy. Her symptoms presented about 2 years earlier with inability to walk unaided and lower limbs hypotonia. Cognitive functions were normal. Brain MRI showed a cerebellar and vermian hypoplasia with enlargement of both the cerebrospinal fluid spaces and the IV brain ventricle. Family history was unremarkable. A genetic screening using a 42-gene panel for hereditary ataxia/spastic paraparesis identified a de novo c.1438C>T - p.(Arg480Trp) missense change in the SPTBN2 gene (NM_006946.2). This variant is reported to be associated with congenital ataxia, later evolving into ataxia and intellectual disability. This case further supports the existence of a specific SPTBN2 p.(Arg480Trp)-associated phenotype, with a de novo recurrence of this variant in the heterozygous state.

  • genetics
  • brain stem / cerebellum
  • neuro genetics

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Footnotes

  • Contributors PD performed the laboratory experiments. AZ collected and interpreted clinical data. A Brussino and A Brusco analysed data and prepared the manuscript. All authors revised and approved the manuscript.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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