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A new F‐box protein 7 gene mutation causing typical Parkinson's disease

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Lohmann, Ebba | Coquel, Anne‐sophie | Honoré, Aurélie | Gurvit, Hakan | Hanagasi, Hasmet | Emre, Murat | Leutenegger, Anne | Drouet, Valérie | Sahbatou, Mourad | Guven, Gamze | Erginel-Unaltuna, Nihan | Deleuze, Jean‐francois | Lesage, Suzanne | Brice, Alexis

Edité par CCSD ; Wiley -

International audience. Background Recessive mutations in the F‐box protein 7 gene ( FBXO7 ; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations. Methods Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination. Results The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa‐responsive PD. Conclusion This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. © 2015 International Parkinson and Movement Disorder Society

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