The motor and neuropsychological abnormalities in eight Greek patients with Parkinson's disease (PD) carrying the alpha-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.

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Various instruments with good psychometric properties have been developed for the assessment of health-related quality of life (HRQoL) in Parkinson's disease, (PD); however, in everyday practice a brief questionnaire is needed for quick screening of patients. We present the process of development and validation of the Greek version of PD questionnaire-8 (PDQ-8(GrV)), which is an 8-item scale derived from a well-known measure for the evaluation of HRQoL in PD, the PD questionnaire (PDQ-39). PDQ-8 (GrV) was applied to 228 nondemented Greek PD patients. Data from PDQ-39 were also collected from these patients for comparisons between the total scores of the two scales. Detailed statistical analysis showed that PD-8(GrV) has psychometric properties analogous to its parent questionnaire.