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Mov Disord. 2005 Jul;20(7):819-21.

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.

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1
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.

Abstract

We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutations in the exon 3 and 5. This patient had a 10-year history of PKAN characterized by a slight tremor of the right hand when writing at onset and a slow progressive rigidity of the neck and the right arm and resting tremor in upper extremities. Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign.

PMID:
15747360
PMCID:
PMC2105744
DOI:
10.1002/mds.20408
[Indexed for MEDLINE]
Free PMC Article
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