Fortini Daniela, Cricchi Federica, Di Fabio Roberto, Damiano Maria, Comanducci Giovanna, Benedetti Laura, Valoppi Manuela, Grieco Gaetano S, D'Eugenio Ottavio, Celato Andrea, Santorelli Filippo, Casali Carlo, Amabile Giuseppe A, Pierelli Francesco
Department of Neurology and Otolaryngology, University "La Sapienza", Rome, Italy.
Funct Neurol. 2003 Jan-Mar;18(1):43-9.
Hereditary spastic paraparesis (HSP) comprises a clinically and genetically heterogeneous group of disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. The past few years have witnessed an exponential increase in knowledge of this disease and we can now list 19 loci mapped on the human genome and eight genes cloned. However, this wider knowledge of the molecular basis of HSP has had limited impact on clinical practice: the use of antispastic drugs and regular physiotherapy still remain crucial in the therapeutic management of patients. Nonetheless, the identification of new genes mutated in HSP furthers comprehension of the pathomechanisms involved and helps in genetic counseling, especially of asymptomatic individuals who request molecular analyses.
遗传性痉挛性截瘫(HSP)是一组临床和遗传异质性疾病,其特征为下肢进行性痉挛和反射亢进。在过去几年中,人们对这种疾病的认识呈指数级增长,目前我们可以列出19个定位在人类基因组上的位点和8个已克隆的基因。然而,对HSP分子基础的更广泛了解对临床实践的影响有限:抗痉挛药物的使用和定期物理治疗在患者的治疗管理中仍然至关重要。尽管如此,HSP中突变的新基因的鉴定有助于进一步理解所涉及的发病机制,并有助于遗传咨询,特别是对那些要求进行分子分析的无症状个体。