TY - JOUR AU - Paudel, R. AU - Li, A. AU - Wiethoff, S. AU - Bandopadhyay, R. AU - Bhatia, K. AU - de Silva, R. AU - Houlden, H. AU - Holton, J. L. PY - 2015 DA - 2015/06/30 TI - Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy JO - Acta Neuropathologica Communications SP - 39 VL - 3 IS - 1 AB - Beta-propeller protein associated neurodegeneration (BPAN) is associated with mutations in the WD repeat domain 45 (WDR45) gene on chromosome Xp11 resulting in reduced autophagic flux. This study describes the clinical and neuropathological features of a female 51 year old BPAN case. The clinical history includes learning disability and progressive gait abnormalities since childhood followed by progressive dystonic features in young adulthood. Brain imaging revealed generalised brain atrophy and bilateral mineralisation of the globus pallidus and substantia nigra. SN - 2051-5960 UR - https://doi.org/10.1186/s40478-015-0221-3 DO - 10.1186/s40478-015-0221-3 ID - Paudel2015 ER -