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

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

220 Citaten (Scopus)

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)555-557
Aantal pagina's3
TijdschriftNeurology
Volume56
Nummer van het tijdschrift4
DOI's
StatusGepubliceerd - 27 feb. 2001
Extern gepubliceerdJa

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