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

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Abstract

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
JournalNeurology
Volume64
Issue number10
DOIs
Publication statusPublished - May 24 2005

ASJC Scopus subject areas

  • Neuroscience(all)

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    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. (2005). The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration. Neurology, 64(10), 1810-1812. https://doi.org/10.1212/01.WNL.0000161843.52641.EC