Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6

Boz P. B., Koc F., Sel S. K., Guzel A. I., Kasap H.

NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, vol.53, pp.115-119, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53
  • Publication Date: 2016
  • Doi Number: 10.5152/npa.2015.9925
  • Journal Name: NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.115-119
  • Keywords: Hereditary, Friedreich's ataxia, autosomal recessive ataxia, spinocerebellar ataxia, CEREBELLAR-ATAXIA, CAG REPEAT, EXPANSION, GENETICS
  • Çukurova University Affiliated: Yes

Abstract

Introduction: This study aimed to analyze the genotypic characteristics of Friedreich's ataxia (FA) and autosomal dominant ataxias [such as spinocerebellar ataxia (SCA) types 1, 2, 3, and 6] using molecular and biological methods in hereditary cerebellar ataxia considering both clinical and electrophysiological findings.