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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

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Lesage, Suzanne | Bras, Jose | Cormier-Dequaire, Florence | Condroyer, Christel | Darwent, Lee | Guerreiro, Rita | Majounie, Elisa | Federoff, Monica | Heutink, Peter | Gasser, Thomas | Hardy, John | Tison, François | Singleton, Andrew | Brice, Alexis | Wood, Nicholas W | Nicolas, Aude

Edité par CCSD ; American Academy of Neurology -

International audience. Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.1 Three of 4 X-linked RAB genes are specific to the brain, including RAB39B. Recently, Wilson et al.2 reported that mutations in RAB39B cause X-linked intellectual disability (ID) and pathologically confirmed Parkinson disease (PD). They identified a ∼45-kb deletion resulting in the complete loss of RAB39B in an Australian kindred and a missense mutation in a large Wisconsin kindred. Here, we report an additional affected man with typical PD and mild mental retardation harboring a new truncating mutation in RAB39B.

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