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Case Reports
. 2005 Jul;20(7):819-21.
doi: 10.1002/mds.20408.

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

Yu-hu Zhang  1 , Bei-sha Tang, Ai-ling Zhao, Kun Xia, Zhi-gao Long, Ji-feng Guo, Shawn K Westaway, Susan J Hayflick
Affiliations
Case Reports

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

Yu-hu Zhang et al. Mov Disord. 2005 Jul.

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.

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Figures

FIG. 1
FIG. 1
T2-weighted brain MRI showing the “eye-of-the-tiger” sign. [Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.]
FIG. 2
FIG. 2
Family with compound heterozygous PANK2 gene mutations. Proband with PKAN is indicated with an arrow. Square, male; circle, female; filled symbol, affected. Individuals with a PANK2 mutation are indicated below the symbol.
See this image and copyright information in PMC

References

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