Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families

The clinical features of nine patients {three women and six men) affected b y PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generati on suggested an autosomal recessive mode of inheritance in all three famili es. Mean age at disease onset was 36 +/- 4.6 years; all cases except one pr esented with asymmetrical signs, consisting of tremor and akinesia of one u pper limb or unilateral short step gait. Affected individuals had a mean ag e of 57 +/- 8.5 years, and average disease duration was 21 +/- 7.8 years. P arkinsonian features included benign course, early onset of drug-induced dy skinesias, and a good and persistent response to levodopa. There were no ot her associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffe cted. The clinical picture was remarkably similar in all patients; no relev ant family-related differences were found. PARK6 disease is a new form of e arly-onset parkinsonism without other atypical clinical features. (C) 2001 Movement Disorder Society.