BPAN: The Only X-Linked Dominant NBIA Disorder

摘要: Beta-propeller protein-associated neurodegeneration (BPAN) is the most recently identified subtype of with brain iron accumulation (NBIA), being unique respect to underlying disease genetics, associated clinical presentation, and suggested pathomechanism. Mutations in X-chromosomal WDR45 arise de novo; however, dominant pattern inheritance unusual for an X-linked disorder additional mechanisms such as X-inactivation or somatic mosaicism are likely contribute phenotype that indistinguishable between males females. The course two-staged developmental delay intellectual disability childhood a second phase rapid neurological deterioration characterized by parkinsonism dementia occurring adolescence early adulthood. At this time, neuroimaging findings characteristic provide excellent diagnostic guidance. There increasing evidence human deficiency impairs autophagy, thereby raising possibility rare will offer insights into more common neurodegenerative disorders Parkinson Alzheimer disease.