[Clinical manifestations and detection of pantothenate kinase 2 gene mutation in a patient with Hallervorden-Spatz syndrome].
OBJECTIVE
To investigate the clinical features and detection of pantothenate kinase 2 (PANK2) gene mutation in a Chinese patient with Hallervorden-Spatz syndrome (HSS).


METHODS
The clinical features were analyzed in one HSS patient. PANK2 gene mutations were detected by polymerase chain reaction (PCR) and DNA sequence analysis in this patient, her parents and 50 unrelated healthy persons.


RESULTS
The main symptoms of this patient were involuntary movements, dysarthria and progressive course. MRI scans showed hypointensity with a central region of hyperintensity in medial globus pallidus on T2 and T2-weighted fluid attenuated inversion recovery (FLAIR) images, i.e. "eye-of-the-tiger" sign. Novel compound heterozygous PANK2 gene mutations, G115T and A803G, were found in this patient, leading to substitution of a glutamic acid for a premature stop codon at amino acid 39 (E39X) and an aspartic acid for glycine codon at amino acid 268 (D268G) respectively. The father was a heterozygote for G115T mutation and the mother a heterozygote for A803G mutation.


CONCLUSIONS
PANK2 gene mutations are present in Chinese HSS patients. And A803G mutation of PANK2 gene is probably a hot spot.
Song
Xing-wang
XW
Neurology Department of Second Affiliated Hospital, Guangzhou Medical College, Guangzhou 510260, China.
Wang
Yu-liang
YL
Shi
Yi-wu
YW
Deng
Wei-yi
WY
Chen
Sheng-qiang
SQ
Lin
Han
H
Yi
Yong-hong
YH
Liao
Wei-ping
WP
D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase