Current insights into familial spastic paraparesis: new advances in an old disease.
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.
Fortini
Daniela
D
Department of Neurology and Otolaryngology, University "La Sapienza", Rome, Italy.
Cricchi
Federica
F
Di Fabio
Roberto
R
Damiano
Maria
M
Comanducci
Giovanna
G
Benedetti
Laura
L
Valoppi
Manuela
M
Grieco
Gaetano S
GS
D'Eugenio
Ottavio
O
Celato
Andrea
A
Santorelli
Filippo
F
Casali
Carlo
C
Amabile
Giuseppe A
GA
Pierelli
Francesco
F
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