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

Gunduz, Ayşegül; Eken, Asli; Bilgic, BAŞAR; Hanagasi, HAŞMET; Bilguvar, Kaya; Guenel, Murat; Basak, A.; Ertan, Sibel

doi:10.1016/j.parkreldis.2014.07.016

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., ...Daha Fazla

PARKINSONISM & RELATED DISORDERS, cilt.20, sa.11, ss.1253-1256, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 20 Sayı: 11
Basım Tarihi: 2014
Doi Numarası: 10.1016/j.parkreldis.2014.07.016
Dergi Adı: PARKINSONISM & RELATED DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1253-1256
İstanbul Üniversitesi Adresli: Evet

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.