[Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia].
OBJECTIVE
To investigate the clinical characteristics and analyze spastin gene mutation on a kindred with hereditary spastic paraplegia (HSP).


METHODS
All family members were studied through clinical examinations. The proband and another two patients in this kindred were subjected to electromyography (EMG) examinations. The proband was subjected to thoracic MRI examination too. Mutation analysis of spastin gene was screened by polymerase chain reaction combined with DNA sequencing in the proband and his father.


RESULTS
All patients in the kindred manifested as classical HSP. Thoracic MRI revealed atrophies of the spinal cord in the proband. No abnormal spastin gene mutation was detected in these two patients.


CONCLUSIONS
This kindred has typical clinical manifestations of HSP. The pathogenesis has no association with mutation of the exons of spastin gene.
Liu
Ling
L
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041 PR China.
Liu
Yun-qiang
YQ
Xu
Yan-ming
YM
Xue
Rui
R
Tang
Yu-feng
YF
Zhao
Li-li
LL
Liu
Yong-hong
YH
Zhou
Dong
D
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology*; D000074181:Spastin; D055815:Young Adult
D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human