Spinocerebellar Ataxia-21 in a Turkish Child


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

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, cilt.21, ss.68-70, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 21 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4103/aian.aian_415_17
  • Dergi Adı: ANNALS OF INDIAN ACADEMY OF NEUROLOGY
  • Sayfa Sayısı: ss.68-70

Özet

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.