•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
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11570/3150046
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact