•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 MInvestigation
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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.File in questo prodotto:
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