Article
Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.
Parkinsonism & related disorders - 1 May 2009
Tarantino Patrizia, Civitelli Donatella, Annesi Ferdinanda, De Marco Elvira V, Rocca Francesca E, Pugliese Pierfrancesco, Nicoletti Giuseppe, Carrideo Sara, Provenzano Giovanni, Annesi Grazia, Quattrone Aldo
Abstract excerpt
In this study we analysed the DJ-1 gene in 40 sporadic patients with early onset Parkinson's disease and 100 appropriate controls, originated from southern Italy. We identified a single patient with age at onset of 38 years carrying two previously undescribed heterozygous mutations, both located in non-coding regions. The first mutation was a nucleotide change in the promoter region of the gene (g.159C>G) and the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.