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, cilt.53, ss.115-119, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53
  • Basım Tarihi: 2016
  • Doi Numarası: 10.5152/npa.2015.9925
  • Dergi Adı: NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.115-119
  • Anahtar Kelimeler: Hereditary, Friedreich's ataxia, autosomal recessive ataxia, spinocerebellar ataxia, CEREBELLAR-ATAXIA, CAG REPEAT, EXPANSION, GENETICS
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.