A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration
Articolo
Data di Pubblicazione:
2020
Abstract:
•PKAN is a rare autosomal recessive disorder caused by mutations in the PANK2 gene. •Mutations in PANK2 lead to neurodegeneration with brain iron accumulation. •PANK2 plays a role in the biosynthesis of coenzyme A from dietary vitamin B5. •We describe a young girl with progressive gait disorder and an ‘eye of the tiger sign’. •She carries a novel homozygous frameshift deletion in the PANK2 gene. •This represents the first PKAN case from North Africa where the disease has not been previously reported.
Tipologia CRIS:
14.a.1 Articolo su rivista
Keywords:
Keywords: Brain iron accumulation, Neurodegeneration, PANK2, NBIA, North Africa
Elenco autori:
Efthymiou, S; Kriouile, Y; Salpietro, V; Hajar, R; Ghizlane, Z; Mankad, K; El Khorassani, M; Aguennouz, M; SYNaPS Study, Group; Houlden, H; Wiethoff, S.
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