背景:遗传性痉挛性截瘫(HSP)是一组皮质脊髓束的神经遗传疾病,伴有明显的痉挛和下肢无力。痉挛型截瘫4型(SPG4)基因突变,编码痉挛蛋白,是这种疾病的主要原因。本研究报道了一个由SPG4基因的新突变引起的HSP中国家庭。
方法:我院收治一名44岁男性长期右侧下肢无力,支腿刚度,行走不稳定。他的症状逐渐加重,下肢无明显肌肉萎缩。神经系统检查显示下肢肌力正常,并检测到膝关节反射性反射亢进和双侧阳性Babinski体征。他的家人也有同样的症状。使用突变分析,一种新的杂合复制突变,c.1053dupA,p.(Gln352Thrfs*15),在该家族的SPG4基因中鉴定。
结论:一个中国HSP家族有一个新的SPG4基因突变,它是常染色体显性遗传的,作为纯HSP遗传。发病年龄,性别分布,并对该家庭中所有现存患者的临床表现进行分析。该发现可以扩展对SPG4基因中现有突变的现有知识。
BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of neurogenetic diseases of the corticospinal tract, accompanied by distinct spasticity and weakness of the lower extremities. Mutations in the spastic paraplegia type 4 (SPG4) gene, encoding the spastin protein, are the major cause of the disease. This study reported a Chinese family with HSP caused by a novel mutation of the SPG4 gene.
METHODS: A 44-year-old male was admitted to our hospital for long-term right lower limb weakness, leg stiffness, and unstable walking. His symptoms gradually worsened, while no obvious muscle atrophy in the lower limbs was found. Neurological examinations revealed that the muscle strength of the lower limbs was normal, and knee reflex hyperreflexia and bilateral positive Babinski signs were detected. Members of his family also had the same symptoms. Using mutation analysis, a novel heterozygous duplication mutation, c.1053dupA, p. (Gln352Thrfs*15), was identified in the SPG4 gene in this family.
CONCLUSIONS: A Chinese family with HSP had a novel mutation of the SPG4 gene, which is autosomal dominant and inherited as pure HSP. The age of onset, sex distribution, and clinical manifestations of all existing living patients in this family were analyzed. The findings may extend the current knowledge on the existing mutations in the SPG4 gene.