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 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.
Zhang
Yu-hu
YH
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Tang
Bei-sha
BS
Zhao
Ai-ling
AL
Xia
Kun
K
Long
Zhi-gao
ZG
Guo
Ji-feng
JF
Westaway
Shawn K
SK
Hayflick
Susan J
SJ
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*
D007532:Isoleucine; D001224:Aspartic Acid; D001216:Asparagine; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D005998:Glycine