Spinocerebellar Ataxia-21 in a Turkish Child


İNCECİK F. , HERGUNER O. M. , WILLEMS P., MUNGAN N. O.

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, vol.21, no.1, pp.68-70, 2018 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.4103/aian.aian_415_17
  • Title of Journal : ANNALS OF INDIAN ACADEMY OF NEUROLOGY
  • Page Numbers: pp.68-70

Abstract

Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 ( SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey.