Journal
NEUROLOGY
Volume 56, Issue 4, Pages 555-557Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.56.4.555
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A Dutch family with autosomal recessive early-onset parkinsonism showed a heterozygous missense mutation in combination with a heterozygous exon deletion in the parkin. gene. Although the main clinical syndrome consisted of parkinsonism, the proband clinically had additional mild gait ataxia and pathologically 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 tau pathology was found.
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