| Literature DB >> 12760414 |
Daniela Fortini1, Federica Cricchi, Roberto Di Fabio, Maria Damiano, Giovanna Comanducci, Laura Benedetti, Manuela Valoppi, Gaetano S Grieco, Ottavio D'Eugenio, Andrea Celato, Filippo Santorelli, Carlo Casali, Giuseppe A Amabile, Francesco Pierelli.
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.Entities:
Mesh:
Year: 2003 PMID: 12760414
Source DB: PubMed Journal: Funct Neurol ISSN: 0393-5264