Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period

Jordi Clarimon; Janel Johnson; Ruth Djaldetti; Dena Hernandez; Nobutaka Hattori; Hava Sroka; Yael Barhom; Andrew Singleton

doi:10.1002/mds.20495

Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period

Mov Disord. 2005 Jul;20(7):887-90. doi: 10.1002/mds.20495.

Authors

Jordi Clarimon¹, Janel Johnson, Ruth Djaldetti, Dena Hernandez, Nobutaka Hattori, Hava Sroka, Yael Barhom, Andrew Singleton

Affiliation

¹ Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA. clarimon@mail.nih.gov

PMID: 15852366
DOI: 10.1002/mds.20495

Abstract

We report on an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR-JP, PARK2, Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings.

Publication types

Comparative Study

MeSH terms

Aged
DNA Mutational Analysis / methods
Exons
Female
Humans
Iran
Male
Mutation*
Odds Ratio
Parkinsonian Disorders / genetics*
Pedigree
RNA, Messenger / biosynthesis
Reverse Transcriptase Polymerase Chain Reaction / methods
Siblings*
Ubiquitin-Protein Ligases / genetics*

Substances

RNA, Messenger
Ubiquitin-Protein Ligases
parkin protein