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Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

Publication ,  Journal Article
Oliveira, SA; Scott, WK; Martin, ER; Nance, MA; Watts, RL; Hubble, JP; Koller, WC; Pahwa, R; Stern, MB; Hiner, BC; Ondo, WG; Allen, FH ...
Published in: Ann Neurol
May 2003

Parkin, an E2-dependent ubiquitin protein ligase, carries pathogenic mutations in patients with autosomal recessive juvenile parkinsonism, but its role in the late-onset form of Parkinson's disease (PD) is not firmly established. Previously, we detected linkage of idiopathic PD to the region on chromosome 6 containing the Parkin gene (D6S305, logarithm of odds score, 5.47) in families with at least one subject with age at onset (AAO) younger than 40 years. Mutation analysis of the Parkin gene in the 174 multiplex families from the genomic screen and 133 additional PD families identified mutations in 18% of early-onset and 2% of late-onset families (5% of total families screened). The AAO of patients with Parkin mutations ranged from 12 to 71 years. Excluding exon 7 mutations, the mean AAO of patients with Parkin mutations was 31.5 years. However, mutations in exon 7, the first RING finger (Cys253Trp, Arg256Cys, Arg275Trp, and Asp280Asn) were observed primarily in heterozygous PD patients with a much later AAO (mean AAO, 49.2 years) but were not found in controls in this study or several previous reports (920 chromosomes). These findings suggest that mutations in Parkin contribute to the common form of PD and that heterozygous mutations, especially those lying in exon 7, act as susceptibility alleles for late-onset form of Parkinson disease.

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Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

May 2003

Volume

53

Issue

5

Start / End Page

624 / 629

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • RNA, Messenger
  • Polymerase Chain Reaction
  • Point Mutation
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Middle Aged
  • Male
  • Ligases
  • Humans
 

Citation

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Chicago
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Oliveira, S. A., Scott, W. K., Martin, E. R., Nance, M. A., Watts, R. L., Hubble, J. P., … Vance, J. M. (2003). Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol, 53(5), 624–629. https://doi.org/10.1002/ana.10524
Oliveira, Sofia A., William K. Scott, Eden R. Martin, Martha A. Nance, Ray L. Watts, Jean P. Hubble, William C. Koller, et al. “Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.Ann Neurol 53, no. 5 (May 2003): 624–29. https://doi.org/10.1002/ana.10524.
Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, et al. Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol. 2003 May;53(5):624–9.
Oliveira, Sofia A., et al. “Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.Ann Neurol, vol. 53, no. 5, May 2003, pp. 624–29. Pubmed, doi:10.1002/ana.10524.
Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FH, Scott BL, Goetz CG, Small GW, Mastaglia F, Stajich JM, Zhang F, Booze MW, Winn MP, Middleton LT, Haines JL, Pericak-Vance MA, Vance JM. Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol. 2003 May;53(5):624–629.
Journal cover image

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

May 2003

Volume

53

Issue

5

Start / End Page

624 / 629

Location

United States

Related Subject Headings

  • Ubiquitin-Protein Ligases
  • RNA, Messenger
  • Polymerase Chain Reaction
  • Point Mutation
  • Parkinson Disease
  • Neurology & Neurosurgery
  • Middle Aged
  • Male
  • Ligases
  • Humans