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A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.

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Lohmann, Ebba | Leclere, Laurence | de Anna, Francesca | Lesage, Suzanne | Dubois, Bruno | Agid, Yves | Dürr, Alexandra | Brice, Alexis | Renseigné, Non

Edité par CCSD ; Elsevier -

International audience. We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.

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