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

Boz, Pinar; Koc, AYŞE; Sel, Sabriye; Guzel, Ali; Kasap, HALİL

doi:10.5152/npa.2015.9925

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, Scopus, TRDizin)

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.