TY - JOUR
T1 - Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration
AU - BPAN Guideline Contributing Author Group
AU - Wilson, Jenny L.
AU - Gregory, Allison
AU - Kurian, Manju A.
AU - Bushlin, Ittai
AU - Mochel, Fanny
AU - Emrick, Lisa
AU - Adang, Laura
AU - Hogarth, Penelope
AU - Hayflick, Susan J.
AU - Rogers, Caleb
AU - Lee, Jae Hyeok
AU - Burke, Kimberly
AU - Dyer, Meg Tally
AU - Stretter, Donna
N1 - Publisher Copyright:
© 2021 Mac Keith Press.
PY - 2021/12
Y1 - 2021/12
N2 - This review provides recommendations for the evaluation and management of individuals with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is one of several neurodegenerative disorders with brain iron accumulation along with pantothenate kinase-associated neurodegeneration, PLA2G6-associated neurodegeneration, mitochondrial membrane protein-associated neurodegeneration, fatty acid hydroxylase-associated neurodegeneration, and COASY protein-associated neurodegeneration. BPAN typically presents with global developmental delay and epilepsy in childhood, which is followed by the onset of dystonia and parkinsonism in mid-adolescence or adulthood. BPAN is an X-linked dominant disorder caused by pathogenic variants in WDR45, resulting in a broad clinical phenotype and imaging spectrum. This review, informed by an evaluation of the literature and expert opinion, discusses the clinical phenotype and progression of the disease, imaging findings, epilepsy features, and genetics, and proposes an approach to the initial evaluation and management of disease manifestations across the life span in individuals with BPAN. What this paper adds The complex epilepsy profile of beta-propeller protein-associated neurodegeneration (BPAN) often resolves in adolescence. The treatment for an individual with BPAN is supportive, with attention to sleep disorders, complex epilepsy, and behavioral problems. Individuals with BPAN have shifting needs throughout their life span requiring multidisciplinary care.
AB - This review provides recommendations for the evaluation and management of individuals with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is one of several neurodegenerative disorders with brain iron accumulation along with pantothenate kinase-associated neurodegeneration, PLA2G6-associated neurodegeneration, mitochondrial membrane protein-associated neurodegeneration, fatty acid hydroxylase-associated neurodegeneration, and COASY protein-associated neurodegeneration. BPAN typically presents with global developmental delay and epilepsy in childhood, which is followed by the onset of dystonia and parkinsonism in mid-adolescence or adulthood. BPAN is an X-linked dominant disorder caused by pathogenic variants in WDR45, resulting in a broad clinical phenotype and imaging spectrum. This review, informed by an evaluation of the literature and expert opinion, discusses the clinical phenotype and progression of the disease, imaging findings, epilepsy features, and genetics, and proposes an approach to the initial evaluation and management of disease manifestations across the life span in individuals with BPAN. What this paper adds The complex epilepsy profile of beta-propeller protein-associated neurodegeneration (BPAN) often resolves in adolescence. The treatment for an individual with BPAN is supportive, with attention to sleep disorders, complex epilepsy, and behavioral problems. Individuals with BPAN have shifting needs throughout their life span requiring multidisciplinary care.
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U2 - 10.1111/dmcn.14980
DO - 10.1111/dmcn.14980
M3 - Review article
C2 - 34347296
AN - SCOPUS:85112658165
SN - 0012-1622
VL - 63
SP - 1402
EP - 1409
JO - Developmental Medicine and Child Neurology
JF - Developmental Medicine and Child Neurology
IS - 12
ER -