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

Boz, Pinar; Koc, Filiz; KOCATÜRK SEL, SABRİYE; Guzel, ALİ; 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., KOCATÜRK SEL S., Guzel A. I., KASAP H.

NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY, vol.53, no.2, pp.115-119, 2016 (SCI-Expanded, Scopus, TRDizin)

Publication Type: Article / Article
Volume: 53 Issue: 2
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
Recep Tayyip Erdoğan 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.