Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
β Scribed by Stephen Hague; Ekaterina Rogaeva; Dena Hernandez; Cindy Gulick; Amanda Singleton; Melissa Hanson; Janel Johnson; Roberto Weiser; Marisol Gallardo; Bernard Ravina; Katrina Gwinn-Hardy; Anthony Crawley; Peter H. St. George-Hyslop; Anthony E. Lang; Peter Heutink; Vincenzo Bonifati; John Hardy; Andrew Singleton
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 119 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0364-5134
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A single base substitution of a glutamic acid to an alanine codon 280 was found in the presenilin-1 (PS-1) gene on chromosome 14 in affected individuals in each of seven Colombian early-onset Alzheimer's disease (AD) kindreds. The mutation segregated with disease in kindreds tested. In the largest k
Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients