The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

Maria Teresa Pellecchia, E. M. Valente, L. Cif, S. Salvi, A. Albanese, V. Scarano, U. Bonuccelli, A. R. Bentivoglio, A. D'Amico, C. Marelli, A. Di Giorgio, P. Coubes, P. Barone, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review


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 presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome.

Original languageEnglish
Pages (from-to)1810-1812
Number of pages3
Issue number10
Publication statusPublished - May 24 2005

ASJC Scopus subject areas

  • Neuroscience(all)


Dive into the research topics of 'The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration'. Together they form a unique fingerprint.

Cite this