Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey

KESSLER C., ATASU B., Hanagasi H. A., SIMON-SANCHEZ J., HAUSER A., Pak M., ...Daha Fazla

PARKINSONISM & RELATED DISORDERS, cilt.48, ss.34-39, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.parkreldis.2017.12.007
  • Dergi Adı: PARKINSONISM & RELATED DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.34-39
  • Anahtar Kelimeler: Parkinson's disease, ADPD, Turkey, LRRK2, SNCA, MUTATIONS, PHENOTYPE, GENES, POPULATION, PENETRANCE, VARIANTS, GENOTYPE, RISK
  • İstanbul Üniversitesi Adresli: Evet

Özet

Introduction: Mutations in the LRRK2 and alpha-synuclein (SNCA) genes are well-established causes of autosomal dominant Parkinson's disease (PD). However, their frequency differs widely between ethnic groups. Only three studies have screened all coding regions of LRRK2 and SNCA in European samples so far. In Turkey, the role of LRRK2 in Parkinson's disease has been studied fragmentarily, and the incidence of SNCA copy number variations is unknown. The purpose of this study is to determine the frequency of LRRK2 and SNCA mutations in autosomal dominant PD in Turkey.