Hereditary spastic paraplegia.
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders. HSP is classified according to the mode of inheritance, the HSP locus when known, and whether the spastic paraplegia syndrome occurs alone or is accompanied by additional neurologic or systemic abnormalities. Analysis of 11 recently discovered HSP genes provides insight into HSP pathogenesis. Hereditary spastic paraplegia is a clinical diagnosis for which laboratory confirmation is sometimes possible, and careful exclusion of alternate and co-existing disorders is an important element in HSP diagnosis. Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. Prenatal genetic testing in HSP is possible for some individuals with the increasing availability of HSP gene analysis.
Fink
John K
JK
Department of Neurology, University of Michigan and the Geriatric Research Education and Clinical Care Center of the Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI 48109-0940, USA. jkfink@umich.edu
D003937:Diagnosis, Differential; D006801:Humans; D011379:Prognosis; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy