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

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

PARKINSONISM & RELATED DISORDERS, vol.20, no.11, pp.1253-1256, 2014 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 20 Issue: 11
• Publication Date: 2014
• Doi Number: 10.1016/j.parkreldis.2014.07.016
• Journal Name: PARKINSONISM & RELATED DISORDERS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.1253-1256
• Istanbul University Affiliated: Yes

Abstract

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.