title: Current insights into familial spastic paraparesis: new advances in an old disease.
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.
authors.affiliation: Department of Neurology and Otolaryngology, University "La Sapienza", Rome, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Fortini
authors.forename: Federica
authors.initials: F
authors.lastname: Cricchi
authors.forename: Roberto
authors.initials: R
authors.lastname: Di Fabio
authors.forename: Maria
authors.initials: M
authors.lastname: Damiano
authors.forename: Giovanna
authors.initials: G
authors.lastname: Comanducci
authors.forename: Laura
authors.initials: L
authors.lastname: Benedetti
authors.forename: Manuela
authors.initials: M
authors.lastname: Valoppi
authors.forename: Gaetano S
authors.initials: GS
authors.lastname: Grieco
authors.forename: Ottavio
authors.initials: O
authors.lastname: D'Eugenio
authors.forename: Andrea
authors.initials: A
authors.lastname: Celato
authors.forename: Filippo
authors.initials: F
authors.lastname: Santorelli
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.forename: Giuseppe A
authors.initials: GA
authors.lastname: Amabile
authors.forename: Francesco
authors.initials: F
authors.lastname: Pierelli
mesh_terms: D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D012729:Sex Chromosome Aberrations / Q000706:statistics & numerical data; D015419:Spastic Paraplegia, Hereditary / Q000145:classification / Q000235:genetics* / Q000503:physiopathology