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.
Original language | English (US) |
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Pages (from-to) | 819-821 |
Number of pages | 3 |
Journal | Movement Disorders |
Volume | 20 |
Issue number | 7 |
DOIs | |
State | Published - Jul 2005 |
Keywords
- Hallervorden-Spatz syndrome
- Magnetic resonance imaging
- Neurodegeneration
- PANK2 gene
- PKAN
- Pantothenate kinase-associated neurodegeneration
ASJC Scopus subject areas
- Neurology
- Clinical Neurology