Article
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
American journal of medical genetics. Part A - 1 Feb 2016
Takano Kyoko, Shiba Naoko, Wakui Keiko, Yamaguchi Tomomi, Aida Noriko, Inaba Yuji, Fukushima Yoshimitsu, Kosho Tomoki
Abstract excerpt
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a subtype of neurodegeneration with brain iron accumulation (NBIA). BPAN is caused by mutations in an X-linked gene WDR45 that is involved in autophagy. BPAN is characterized by developmental delay or intellectual disability until adolescence or early...
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