Early‐onset Parkinson's disease caused by a compound heterozygous DJ‐1 mutation
2003; Wiley; Volume: 54; Issue: 2 Linguagem: Inglês
10.1002/ana.10663
ISSN1531-8249
AutoresStephen Hague, Ekaterina Rogaeva, Dena G. Hernandez, Cindy Gulick, Amanda Singleton, Melissa Hanson, Janel Johnson, Roberto Weiser, Marisol Gallardo, Bernard Ravina, Katrina Gwinn, Anthony Crawley, Peter St George‐Hyslop, Anthony E. Lang, Peter Heutink, Vincenzo Bonifati, John Hardy, Andrew Singleton,
Tópico(s)Alzheimer's disease research and treatments
ResumoAbstract Mutations in DJ‐1 have been linked to an autosomal recessive form of early‐onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ‐1 in 107 early‐onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in the first coding exon and an exon 7 splice mutation both predicted to result in a loss of functional protein. This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ‐1 are a rare cause of early‐onset PD.
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