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Mutation of the Parkin gene in a Persian family: Clinical progression over a 40‐year period
Author(s) -
Clarimon Jordi,
Johnson Janel,
Djaldetti Ruth,
Hernandez Dena,
Hattori Nobutaka,
Sroka Hava,
Barhom Yael,
Singleton Andrew
Publication year - 2005
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20495
Subject(s) - parkinsonism , parkin , exon , genetics , mutation , odds ratio , gene , genotype , medicine , biology , pediatrics , parkinson's disease , disease
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. © 2005 Movement Disorder Society