Article
A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45.
Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2017
Hermann Andreas, Kitzler Hagen H, Pollack Tobias, Biskup Saskia, Krüger Stefanie, Funke Claudia, Terrile Caterina, Haack Tobias B
Abstract excerpt
BACKGROUND: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal. WDR45 encodes a beta-propeller scaffold protein with a putative role in autophagy, and the disease has been renamed beta-propeller protein-associated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.