FBX07-R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family


Gunduz A. , Eken A. G. , Bilgic B., Hanagasi H. A. , Bilguvar K., Guenel M., et al.

PARKINSONISM & RELATED DISORDERS, cilt.20, ss.1253-1256, 2014 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 20 Konu: 11
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.parkreldis.2014.07.016
  • Dergi Adı: PARKINSONISM & RELATED DISORDERS
  • Sayfa Sayısı: ss.1253-1256

Özet

Objective: FBXO7 mutations (PARK 15), first reported in 2008, are among the monogenic causes of early-onset parkinsonism. Classically, PARK 15 was suggested to correspond to previously described pallido-pyramidal syndrome. Here, we report clinical and genetic findings in a unique family of Kurdish origin with an FBXO7 mutation and presenting with diverse clinical phenotypes.