Article
The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
Neurology - 24 May 2005
Pellecchia M T, Valente E M, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio A R, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B
Abstract excerpt
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients...
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