J Clin Neurol.  2015 Jul;11(3):289-291. 10.3988/jcn.2015.11.3.289.

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45

• Ryu SW
• Kim JS
• Lee SH

• KMID: 1894573
• DOI: http://doi.org/10.3988/jcn.2015.11.3.289

Abstract

No abstract available.

Figure

• 

  Fig. 1 Magnetic resonance imaging reveals bilateral hypointense lesions in the substantial nigra surrounded by a hyperintense 'halo' on the T1-weighted image (A). The corresponding lesions appear hypointense on the T2-weighted (B) and gradient-echo (C) images (white arrows). While there is no abnormal signal change on the T1-weighted image (D), bilateral hypointense lesions in the globus pallidus are evident in the T2-weighted (E) and gradient-echo (F) images.

Reference

1. Kruer MC, Boddaert N, Schneider SA, Houlden H, Bhatia KP, Gregory A, et al. Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol. 2012; 33:407–414.

2. Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, et al. Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients. Parkinsonism Relat Disord. 2014; 20:332–336.

3. Haack TB, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012; 91:1144–11 49.

4. Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet. 2013; 45:445–449. 449e1

5. Behrends C, Sowa ME, Gygi SP, Harper JW. Network organization of the human autophagy system. Nature. 2010; 466:68–76.