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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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DNA Mutational Analysis / methods
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Family Health*
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Female
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France
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Genetic Predisposition to Disease*
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Glycine / genetics
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Humans
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Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
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Male
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Middle Aged
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Mutation / genetics*
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Neuropsychological Tests
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Olfaction Disorders* / etiology
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Olfaction Disorders* / genetics
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Olfaction Disorders* / psychology
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Parkinson Disease* / complications
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Parkinson Disease* / genetics
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Parkinson Disease* / psychology
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Protein Serine-Threonine Kinases / genetics*
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Serine / genetics
Substances
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Serine
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LRRK2 protein, human
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Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
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Protein Serine-Threonine Kinases
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Glycine