title: Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
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.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
authors.forename: Yu-hu
authors.initials: YH
authors.lastname: Zhang
authors.forename: Bei-sha
authors.initials: BS
authors.lastname: Tang
authors.forename: Ai-ling
authors.initials: AL
authors.lastname: Zhao
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Zhi-gao
authors.initials: ZG
authors.lastname: Long
authors.forename: Ji-feng
authors.initials: JF
authors.lastname: Guo
authors.forename: Shawn K
authors.initials: SK
authors.lastname: Westaway
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Hayflick
mesh_terms: D000328:Adult; D044466:Asian People; D001216:Asparagine / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005998:Glycine / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D007532:Isoleucine; D001224:Aspartic Acid; D001216:Asparagine; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D005998:Glycine