Article
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Human molecular genetics - 1 Jun 2012
Blauw Hylke M, van Rheenen Wouter, Koppers Max, Van Damme Philip, Waibel Stefan, Lemmens Robin, van Vught Paul W J, Meyer Thomas, Schulte Claudia, Gasser Thomas, Cuppen Edwin, Pasterkamp R Jeroen, Robberecht Wim, Ludolph Albert C, Veldink Jan H, van den Berg Leonard H
Abstract excerpt
Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. Deletions of NIPA1 have been associated with a higher susceptibility to amyotrophic lateral sclerosis (ALS). The exact role of genetic variation in NIPA1 in ALS susceptibility and disease course is, however, not known. We sequenced the entire coding sequence of NIPA1 and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.