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

B. P.C. Van De Warrenburg, M. Lammens, C. B. Lücking, P. Denèfle, P. Wesseling, J. Booij, P. Praamstra, N. Quinn, A. Brice, M. W.I.M. Horstink

Research output: Contribution to journalArticlepeer-review

224 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)555-557
Number of pages3
JournalNeurology
Volume56
Issue number4
DOIs
Publication statusPublished - 27 Feb 2001
Externally publishedYes

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