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Movement Disorders (revue)

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Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

Identifieur interne : 000424 ( Pmc/Corpus ); précédent : 000423; suivant : 000425

Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

Auteurs : Yu-Hu Zhang ; Bei-Sha Tang ; Ai-Ling Zhao ; Kun Xia ; Zhi-Gao Long ; Ji-Feng Guo ; Shawn K. Westaway ; Susan J. Hayflick

Source :

RBID : PMC:2105744

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.


Url:
DOI: 10.1002/mds.20408
PubMed: 15747360
PubMed Central: 2105744

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