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The neurodevelopmental\/neurodegenerative disorder \u03b2-propeller protein-associated neurodegeneration (BPAN) resulted from heterozygous or hemizygous germline mutations\/pathogenic variant of the X chromosome gene <jats:italic>WDR45<\/jats:italic>, encoding WD40 repeat protein interacting with phosphoinositides 4 (WIPI4). This most recently identified subtype of the spectrum of neurodegeneration with brain iron accumulation diseases is characterized by a biphasic mode of disease manifestation and progression. The first phase involves early-onset of epileptic seizures, global developmental delay, intellectual disability and autistic syndrome. Subsequently, Parkinsonism and dystonia, as well as dementia, emerge in a subacute manner in adolescence or early adulthood. BPAN disease phenotypes are thus complex and linked to a wide range of other neuropathological disorders. WIPI4\/WDR45 has an essential role in autophagy, acting as a phosphatidylinositol 3-phosphate binding effector that participates in autophagosome biogenesis and size control. Here, we discuss recent updates on WIPI4\u2019s mechanistic role in autophagy and link the neuropathological manifestations of BPAN\u2019s biphasic infantile onset (epilepsy, autism) and adolescent onset (dystonic, Parkinsonism, dementia) phenotypes to neurological consequences of autophagy impairment that are now known or emerging in many other neurodevelopmental and neurodegenerative disorders. As monogenic <jats:italic>WDR45<\/jats:italic> mutations in BPAN result in a large spectrum of disease phenotypes that stem from autophagic dysfunctions, it could potentially serve as a simple and unique genetic model to investigate disease pathology and therapeutics for a wider range of neuropathological conditions with autophagy defects.<\/jats:p>","DOI":"10.1515\/revneuro-2018-0045","type":"journal-article","created":{"date-parts":[[2018,9,11]],"date-time":"2018-09-11T09:01:54Z","timestamp":1536656514000},"page":"261-277","source":"Crossref","is-referenced-by-count":20,"title":["Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy"],"prefix":"10.1515","volume":"30","author":[{"given":"Catherine Hong Huan","family":"Hor","sequence":"first","affiliation":[{"name":"Neuroscience Academic Clinical Programme , Duke-NUS Medical School , Singapore 169857 , Singapore"},{"name":"Department of Research , National Neuroscience Institute , Singapore 308433 , Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1925-636X","authenticated-orcid":false,"given":"Bor Luen","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry , Yong Loo Lin School of Medicine, National University Health System , Singapore 117597 , Singapore"},{"name":"NUS Graduate School for Integrative Sciences and Engineering , National University of Singapore , Singapore 117456 , Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,9,11]]},"reference":[{"key":"2024110708100650414_j_revneuro-2018-0045_ref_001_w2aab3b7b9b1b6b1ab1b8b1Aa","doi-asserted-by":"crossref","unstructured":"Abidi, A., Mignon-Ravix, C., Cacciagli, P., Girard, N., Milh, M., and Villard, L. 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