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Ann Neurol. 2004 Sep;56(3):424-7.

Novel PINK1 mutations in early-onset parkinsonism.

Author information

1
Department of Neurology, Juntendo University School of Medicine, Tokyo.

Erratum in

  • Ann Neurol. 2004 Oct;56(4):603.

Abstract

PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.

PMID:
15349870
DOI:
10.1002/ana.20251
[Indexed for MEDLINE]

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