Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period
| Autor: | Yael Barhom, Nobutaka Hattori, Andrew B. Singleton, Hava Sroka, Janel O. Johnson, Ruth Djaldetti, Dena G. Hernandez, Jordi Clarimón |
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| Rok vydání: | 2005 |
| Předmět: |
Male
Parkinson's disease Ubiquitin-Protein Ligases DNA Mutational Analysis Biology Iran medicine.disease_cause Parkin Exon Degenerative disease Parkinsonian Disorders Genetic linkage medicine Odds Ratio Humans RNA Messenger Gene Aged Genetics Mutation Reverse Transcriptase Polymerase Chain Reaction Siblings Exons medicine.disease nervous system diseases Pedigree Neurology Female Neurology (clinical) Consanguineous Marriage |
| Zdroj: | Movement disorders : official journal of the Movement Disorder Society. 20(7) |
| ISSN: | 0885-3185 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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