A videotape accompanies this article.
Clinical features of parkinsonian patients with the α-synuclein (G209A) mutation†
Article first published online: 7 NOV 2001
Copyright © 2001 Movement Disorder Society
Volume 16, Issue 6, pages 1007–1013, November 2001
How to Cite
Bostantjopoulou, S., Katsarou, Z., Papadimitriou, A., Veletza, V., Hatzigeorgiou, G. and Lees, A. (2001), Clinical features of parkinsonian patients with the α-synuclein (G209A) mutation. Mov. Disord., 16: 1007–1013. doi: 10.1002/mds.1221
- Issue published online: 29 NOV 2001
- Article first published online: 7 NOV 2001
- Manuscript Accepted: 8 MAY 2001
- Manuscript Revised: 21 MAR 2001
- Manuscript Received: 2 OCT 2000
- familial parkinsonism;
- 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 ± 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.