Details

Autor(en) / Beteiligte

• Efthymiou, Stephanie
• Kriouile, Yamna
• Salpietro, Vincenzo
• Hajar, Rhouda
• Ghizlane, Zouiri
• Mankad, Kshitij
• El Khorassani, Mohamed
• Aguennouz, Mhammed
• Houlden, Henry
• Wiethoff, Sarah

Titel

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

Ist Teil von

• Journal of the neurological sciences, 2020-03, Vol.410, p.116639, Article 116639

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2020

Quelle

MEDLINE

Beschreibungen/Notizen

• •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.