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 Volume 64, Number 10, May 24, 2005
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NEUROLOGY 2005;64:1810-1812
© 2005 American Academy of Neurology
Brief Communications

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

M. T. Pellecchia, MD*, E. M. Valente, MD, PhD*, L. Cif, MD, S. Salvi, BSc, A. Albanese, MD, V. Scarano, MD, U. Bonuccelli, MD, A. R. Bentivoglio, MD, PhD, A. D’Amico, MD, C. Marelli, MD, A. Di Giorgio, BSc, P. Coubes, MD, P. Barone, MD, PhD and B. Dallapiccola, MD

From the Department of Neurological Sciences (Drs. Pellecchia, Scarano, and Barone), University "Federico II," Naples; IRCCS CSS (Dr. Valente, S. Salvi, and A. Di Giorgio), Mendel Institute, Rome, Italy; Department of Neurosurgery (Drs. Cif and Coubes), Gui de Chauliac University Hospital, Montpellier, France; National Neurologic Institute "Carlo Besta" (Drs. Albanese and Marelli), Milan; Catholic University (Dr. Albanese), Milan; Department of Neuroscience (Dr. Bonuccelli), University of Pisa; Institute of Neurology (Dr. Bentivoglio), Catholic University, Rome; Unit of Molecular Medicine (Dr. D’Amico), Bambin Gesù Pediatric Hospital, Rome; Università degli Studi Milano Bicocca (Dr. Marelli), Milan; and Department of Experimental Medicine and Pathology (Dr. Dallapiccola), University "La Sapienza," Rome, Italy.

Address correspondence and reprint requests to Dr. Maria Teresa Pellecchia, Department of Neurological Sciences, University "Federico II," Via Pansini 5, 80131, Naples, Italy; e-mail: pellec3{at}hotmail.com

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.

*These authors contributed equally to this work.

Supported by the Italian Ministry of Health (Ricerca Corrente and Ricerca Finalizzata 2003).

Received November 22, 2004. Accepted in final form January 31, 2005.




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