Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population


İNCECİK F. , Herguner O. M. , Mungan N. O.

JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.15, ss.86-89, 2020 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 15 Konu: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4103/jpn.jpn_145_18
  • Dergi Adı: JOURNAL OF PEDIATRIC NEUROSCIENCES
  • Sayfa Sayıları: ss.86-89

Özet

Background: 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. Materials and Methods: Thirty-one children with ARCA were retrospectively analyzed. Results: Fourteen (45.2%) were boys and 17 (54.8%) were girls with the mean age at onset of symptoms of 46.13 +/- 26.30 months (12-120 months). Of the 31 patients, 21 (67.7%) were from consanguineous marriages. Eight patients had Friedreich's ataxia, five had ataxia telangiectasia, three had l-2-hydroxyglutaric aciduria, three had Joubert syndrome, two had neuronal ceroid lipofuscinosis, two had megalencephalic leukoencephalopathy with subcortical cysts, two had ataxia with ocular motor oculomotor apraxia type 1, one had cytochrome c oxidase deficiency, one had autosomal recessive spastic ataxia of Charlevoix-Saguenay, one had Niemann-Pick type C, one had congenital disorders of glycosylation, one had adrenoleukodystrophy, and one had cobalamin transport disorder. Conclusion: The prevalence of hereditary ataxia can vary among countries. The consanguineous marriage is an important finding in these diseases. These genetic tests will increase the number of ARCA patients diagnosed.