遗传性痉挛性截瘫4型（SPG4）的运动系统异常取决于痉挛蛋白基因的突变类型。
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene.
作者信息
Bönsch D, Schwindt A, Navratil P, Palm D, Neumann C, Klimpe S, Schickel J, Hazan J, Weiller C, Deufel T, Liepert J
机构信息
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, D-07740 Jena, Germany.
出版信息
J Neurol Neurosurg Psychiatry. 2003 Aug;74(8):1109-12. doi: 10.1136/jnnp.74.8.1109.
BACKGROUND
Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical hallmark; a large proportion of autosomal dominant HSP belongs to HSP type 4, which has been linked to the SPG4 locus on chromosome 2. A variety of mutations have been identified within the SPG4 gene product, spastin.
OBJECTIVE
Correlation of genotype and electrophysiological phenotype.
MATERIAL
Two large families with HSP linked to the SPG4 locus with a very similar disease with respect to age of onset, progression, and severity of symptoms.
METHODS
Mutation analysis was performed by PCR from genomic DNA and cDNA, and direct sequencing. The motor system was evaluated using transcranial magnetic stimulation.
RESULTS
Patients differ in several categories depending on the type of mutation present.
CONCLUSIONS
For the first time in hereditary spastic paraparesis, a phenotypic correlate of a given genetic change in the spastin gene has been shown.
背景
遗传性痉挛性截瘫（HSP）是一组以进行性下肢痉挛为临床特征的遗传性神经系统疾病；大部分常染色体显性遗传性痉挛性截瘫属于4型遗传性痉挛性截瘫，其与2号染色体上的SPG4位点相关。在SPG4基因产物spastin中已鉴定出多种突变。
目的
基因型与电生理表型的相关性。
材料
两个与SPG4位点连锁的遗传性痉挛性截瘫大家族，在发病年龄、病情进展和症状严重程度方面疾病情况非常相似。
方法
通过从基因组DNA和cDNA进行PCR及直接测序进行突变分析。使用经颅磁刺激评估运动系统。
结果
根据存在的突变类型，患者在几个类别上存在差异。
结论
在遗传性痉挛性截瘫中首次表明了spastin基因特定遗传变化的表型相关性。
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