期刊
PARKINSONISM & RELATED DISORDERS
卷 15, 期 4, 页码 273-276出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2008.06.008
关键词
Leucine-rich repeat kinase 2 (LRRK2) gene; G2019S mutation; Parkinson disease (PD); Presymptomatic marker; Olfaction
资金
- INSERM
- AP-HP
- Agence Nationale de la Recherche [A05169DS]
- European commission [LSHM-CT-2003-503330/APOPIS]
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. (C) 2008 Elsevier Ltd. All rights reserved.
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