•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.

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration

Salpietro V;Aguennouz M
Investigation
;
2020-01-01

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.
2020
Inglese
ELETTRONICO
410
39
41
3
Internazionale
Esperti anonimi
Keywords: Brain iron accumulation, Neurodegeneration, PANK2, NBIA, North Africa
info:eu-repo/semantics/article
Efthymiou, S; Kriouile, Y; Salpietro, V; Hajar, R; Ghizlane, Z; Mankad, K; El Khorassani, M; Aguennouz, M; SYNaPS Study, Group; Houlden, H; Wiethoff, ...espandi
14.a Contributo in Rivista::14.a.1 Articolo su rivista
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262
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/3150046
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