%0 Journal Article
%T A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45
%A Andreas Hermann
%A Caterina Terrile
%A Claudia Funke
%A Hagen H. Kitzler
%A Saskia Biskup
%A Stefanie Kr¨ąger
%A Tobias B. Haack
%A Tobias Pollack
%J Archive of "Tremor and Other Hyperkinetic Movements".
%D 2017
%R 10.7916/D8251WB0
%X 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 neurodegeneration (BPAN)
%K Static encephalopathy of childhood with neurodegeneration in adulthood
%K SENDA
%K BPAN
%K beta-propeller protein-associated neurodegeneration
%K NBIA
%K WDR45
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656753/