Clinical features of parkinsonian patients with the α-synuclein (G209A) mutation

The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the α‐synuclein gene mutation (G209A) were studied. These patients (five men, three women) belonged to six different families. Their symptoms started between 32–50 years of age (mean ±...

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Bibliographic Details
Published in:Movement disorders 2001-11, Vol.16 (6), p.1007-1013
Main Authors: Bostantjopoulou, S., Katsarou, Z., Papadimitriou, A., Veletza, V., Hatzigeorgiou, G., Lees, A.
Format: Article
Language:English
Subjects:
Adult
Age of Onset
alpha-Synuclein
Biological and medical sciences
Cognition Disorders - diagnosis
Cognition Disorders - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diagnosis, Differential
Disease Progression
familial parkinsonism
Female
G209A mutation
Greece - epidemiology
Humans
Male
Medical sciences
Middle Aged
Mutation - genetics
Nerve Tissue Proteins - genetics
Neurology
Neuropsychological Tests
Parkinson Disease - diagnosis
Parkinson Disease - genetics
Parkinson Disease - physiopathology
Parkinson Disease - psychology
Phenotype
Phosphoproteins - genetics
Syndrome
Synucleins
α-synuclein
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Summary:The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the α‐synuclein gene mutation (G209A) were studied. These patients (five men, three women) belonged to six different families. Their symptoms started between 32–50 years of age (mean ± SD, 39.7 ± 7.6 years) and they had a mean disease duration of 5.4 ± 2.1 years (range, 2–9 years) at the time of examination. Rigidity and bradykinesia predominated both at disease onset as well as in the later stages and rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memory, visuoconstructive abilities, and executive function. Depression was present in only one patient. Our findings indicate that genetic forms of parkinsonism share common motor and cognitive characteristics with sporadic PD but raise the possibility that greater cognitive impairment and the relative rarity of tremor may be distinctive features worthy of further investigation. © 2001 Movement Disorder Society.
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.1221