Open AccessClinical features and molecular genetics of autosomal recessive ataxia in the Turkish population
Author(s) -
Faruk Incecık,
Özlem Hergüner,
Neslihan Mungan
Publication year - 2020
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_145_18
Subject(s) - medicine , ataxia , pediatrics , hereditary spastic paraplegia , leukodystrophy , consanguineous marriage , population , consanguinity , joubert syndrome , genetics , pathology , psychiatry , disease , biology , cilium , environmental health , gene , phenotype
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of inherited neurodegenerative disorders. The aim of this study was to present the clinical and genetic features of patients with ataxia complaints and those genetically diagnosed with ARCAs.