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

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 mutation...

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Bibliographic Details
Published in:Movement disorders 2005-07, Vol.20 (7), p.819-821
Main Authors: Zhang, Yu-hu, Tang, Bei-sha, Zhao, Ai-ling, Xia, Kun, Long, Zhi-gao, Guo, Ji-feng, Westaway, Shawn K., Hayflick, Susan J.
Format: Article
Language:English
Subjects:
Adult
Asian Continental Ancestry Group
Asparagine - genetics
Aspartic Acid - genetics
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis
Exons
Glycine - genetics
Hallervorden-Spatz syndrome
Heterozygote
Humans
Isoleucine - genetics
Magnetic Resonance Imaging
Male
Medical sciences
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Mutation
neurodegeneration
Neurology
PANK2 gene
pantothenate kinase-associated neurodegeneration
Pantothenate Kinase-Associated Neurodegeneration - genetics
Pantothenate Kinase-Associated Neurodegeneration - pathology
Pantothenate Kinase-Associated Neurodegeneration - physiopathology
Phosphotransferases (Alcohol Group Acceptor) - genetics
PKAN
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Summary: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. © 2005 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20408