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Article

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2005

Khan Naheed L, Horta Wagner, Eunson Louise, Graham Elizabeth, Johnson Janel O, Chang Shannon, Davis Mary, Singleton Andrew, Wood Nicholas W, Lees Andrew J

Abstract excerpt

We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa...

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Identifiers

PMID: 15641013
DOI: 10.1002/mds.20335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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