The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

@article{Pellecchia2005TheDP,
  title={The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration},
  author={Maria Teresa Pellecchia and Enza Maria Valente and Laura Cif and Sergio Salvi and Alberto Albanese and Valentina Scarano and Ubaldo Bonuccelli and Anna Rita Bentivoglio and Alessandra D’Amico and Cecilia Marelli and Annalisa di Giorgio and Philippe Coubes and Paolo Barone and Bruno Dallapiccola},
  journal={Neurology},
  year={2005},
  volume={64},
  pages={1810 - 1812}
}
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… 

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Pantothenate kinase–associated neurodegeneration

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Molecular Analysis of PANK2 Gene in Two Thai Classic Pantothenate Kinase- Associated Neurodegeneration (PKAN) Patients

This study demonstrates the clinical and genetic characteristics of classic PKAN in two Thai patients with typical features of progressive dystonia and an “eye-of-the-tiger” signal on their brain MRIs.

Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (formerly called HallervordenSpatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with

Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (formerly called HallervordenSpatz syndrome) is a disorder of the nervous system. This condition is characterized by progressive difficulty with
...

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