Article
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
Neurogenetics - 1 Aug 2014
Olgiati Simone, De Rosa Anna, Quadri Marialuisa, Criscuolo Chiara, Breedveld Guido J, Picillo Marina, Pappatà Sabina, Quarantelli Mario, Barone Paolo, De Michele Giuseppe, Bonifati Vincenzo
Abstract excerpt
SYNJ1 has been recently identified by two independent groups as the gene defective in a novel form of autosomal recessive, early-onset atypical parkinsonism (PARK20). Two consanguineous families were initially reported (one of Sicilian and one of Iranian origins), with the same SYNJ1 homozygous mutation (c.773G > A, p.Arg258Gln) segregating with a similar phenotype of early-onset parkinsonism and additional...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.