Mutation of the Parkin gene in a Persian family: Clinical progression over a 40‐year period | Zendy

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

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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

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