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

Ebba Lohmann (1, 2) , Laurence Leclere (1, 2) , Francesca de Anna (3) , Suzanne Lesage (1, 2) , Bruno Dubois (4, 3) , Yves Agid (1, 2) , Alexandra Dürr (2, 3) , Alexis Brice (2, 3) , Non Renseigné

1 Neurologie et thérapeutique expérimentale
2 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
3 CHU Pitié-Salpêtrière [AP-HP]
4 Neuro-anatomie fonctionnelle du comportement et de ses troubles

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.

Domaines: Neurosciences [q-bio.NC]

Ebba Lohmann, Laurence Leclere, Francesca de Anna, Suzanne Lesage, Bruno Dubois, et al.. A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.. Parkinsonism & Related Disorders, 2009, 15 (4), pp.273-6. ⟨10.1016/j.parkreldis.2008.06.008⟩. ⟨hal-00441361⟩