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

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

^*Corresponding author for this work

Neurology

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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.

Original language	English
Pages (from-to)	887-890
Number of pages	4
Journal	Movement Disorders
Volume	20
Issue number	7
DOIs	https://doi.org/10.1002/mds.20495
State	Published - Jul 2005

Funding

Funders	Funder number
National Institute on Aging	Z01AG000957

Keywords

Clinical heterogeneity
Genetics
PARK2
Parkin
Parkinson's disease

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/mds.20495

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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.",

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AU - Hattori, Nobutaka

AU - Sroka, Hava

AU - Barhom, Yael

AU - Singleton, Andrew

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AB - 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.

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

Abstract

Funding

Keywords

UN SDGs

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