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

The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the alpha -synuclein gene mutation (G209 A) were studied. These patients (five men, three women) belonged to six dif ferent 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 bradyk inesia predominated both at disease onset as well as in the later stages an d rest tremor was relatively uncommon. Neuropsychological assessment showed that one patient was mildly demented while another had impairment in memor y, visuoconstructive abilities, and executive function. Depression was pres ent in only one patient. Our findings indicate that genetic forms of parkin sonism share common motor and cognitive characteristics with sporadic PD bu t raise the possibility that greater cognitive impairment and the relative rarity of tremor may be distinctive features worthy of further investigatio n. (C) 2001 Movement Disorder Society.