Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations

A Dutch family with autosomal recessive early-onset parkinsonism showed a h eterozygous missense mutation in combination with a heterozygous exon delet ion in the parkin. gene. Although the main clinical syndrome consisted of p arkinsonism, the proband clinically had additional mild gait ataxia and pat hologically showed neuronal loss in parts of the spinocerebellar system, in addition to selective loss of dopaminergic neurons in the substantia nigra pars compacta. Lewy bodies and neurofibrillary tangles were absent, but ta u pathology was found.