Clinical characteristics and spastin gene mutation analysis on an autosomal dominant kindred with hereditary spastic paraplegia.
- Author:
Ling LIU
1
;
Yun-qiang LIU
;
Yan-ming XU
;
Rui XUE
;
Yu-feng TANG
;
Li-li ZHAO
;
Yong-hong LIU
;
Dong ZHOU
Author Information
- Publication Type:Journal Article
- MeSH: Adenosine Triphosphatases; genetics; Adult; Aged; Aged, 80 and over; Base Sequence; DNA Mutational Analysis; Electromyography; Exons; genetics; Family Health; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Pedigree; Polymerase Chain Reaction; Spastic Paraplegia, Hereditary; genetics; pathology; Spastin; Young Adult
- From: Chinese Journal of Medical Genetics 2007;24(2):224-226
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical characteristics and analyze spastin gene mutation on a kindred with hereditary spastic paraplegia (HSP).
METHODSAll 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.
RESULTSAll 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.
CONCLUSIONThis kindred has typical clinical manifestations of HSP. The pathogenesis has no association with mutation of the exons of spastin gene.
