Article
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes.
Journal of neurology - 1 Sept 2008
Fiorio Mirta, Valente Enza Maria, Gambarin Mattia, Bentivoglio Anna Rita, Ialongo Tamara, Albanese Alberto, Barone Paolo, Pellecchia Maria Teresa, Brancati Francesco, Moretto Giuseppe, Fiaschi Antonio, Tinazzi Michele
Abstract excerpt
BACKGROUND: Mutations in the PINK1 gene, encoding a mitochondrial protein kinase, represent the second cause of autosomal recessive parkinsonism (ARP) after Parkin. While homozygous or compound heterozygous mutations in these genes are unequivocally causative of ARP, the role of single heterozygous mutations is still largely debated. An intriguing hypothesis suggests that these mutations could represent a risk...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.