title: A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.
abstract: 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.
authors: INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013 Paris, France.
authors: Ebba
authors: E
authors: Lohmann
authors: Laurence
authors: L
authors: Leclere
authors: Francesca
authors: F
authors: De Anna
authors: Suzanne
authors: S
authors: Lesage
authors: Bruno
authors: B
authors: Dubois
authors: Yves
authors: Y
authors: Agid
authors: Alexandra
authors: A
authors: Dürr
authors: Alexis
authors: A
authors: Brice
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D005602:France; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D000857:Olfaction Disorders / Q000209:etiology / Q000235:genetics / Q000523:psychology; D010300:Parkinson Disease / Q000150:complications / Q000235:genetics / Q000523:psychology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012694:Serine / Q000235:genetics
chemical_list: D012694:Serine; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005998:Glycine