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.
Current insights into familial spastic paraparesis: new advances in an old disease / D., Fortini; F., Cricchi; DI FABIO, Roberto; M., Damiano; L., Benedetti; G., Comanducci; L., Valoppi; A., Celato; F. M., Santorelli; Casali, Carlo; Amabile, Giuseppe Amadio; Pierelli, Francesco. - In: FUNCTIONAL NEUROLOGY. - ISSN 0393-5264. - STAMPA. - 18:1(2003), pp. 43-49.
Current insights into familial spastic paraparesis: new advances in an old disease
DI FABIO, ROBERTO;CASALI, Carlo;AMABILE, Giuseppe Amadio;PIERELLI, Francesco
2003
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.