Spastic paraplegia, autosomal dominant
A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD-HSP. Spasticity is a state of increased muscle tone. Paraplegia refers to the legs (quadriplegia refers to both the arms and legs). In hereditary spastic paraplegia there is an insidiously progressive condition characterized by weakness beginning in the feet and lower legs. There is stiffness of the legs in walking due to the spasticity. Autosomal dominant hereditary spastic paraplegia can result from changes in a number of different genes. Each gene is autosomal (on an nonsex chromosome) and dominant (capable of causing the disease by itself). Among the 4 genes causing AD-HSP found through 1999, one that is on chromosome 2 accounts for 40-50% of all families with AD-HSP. Researchers have identified a gene that is responsible for this most frequent form of AD-HSP. They named the gene "spastin" (for spasticity). Spastin appears to code for a critically important enzyme (in technical terms, an ATPase involved in the assembly or function of nuclear protein complexes). (Reference: Hazan J et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nature Genetics 23: 296 - 303, 1999.)

Medical dictionary. 2011.

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  • Hereditary spastic paraplegia, autosomal dominant — A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD HSP. Spasticity is a state of increased muscle tone. Paraplegia refers to the legs (quadriplegia refers to both the arms and legs). In hereditary spastic …   Medical dictionary

  • Autosomal dominant hereditary spastic paraplegia — A degenerative disorder of nerves with progressive spasticity of the legs. Abbreviated as AD HSP. Spasticity is a state of increased muscle tone. Paraplegia refers to the legs (quadriplegia refers to both the arms and legs). In hereditary spastic …   Medical dictionary

  • Hereditary spastic paraplegia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|G|11|4|g|10 ICD9 = ICD9|334.1 ICDO = OMIM = MedlinePlus = eMedicineSubj = pmr eMedicineTopic = 45 MeshID = D015419 Hereditary Spastic Paraplegia (HSP), also called Familial… …   Wikipedia

  • Palmoplantar keratoderma and spastic paraplegia — Classification and external resources OMIM 148360 Palmoplantar keratoderma and spastic paraplegia (also known as Charcot–Marie–Tooth disease with palmoplantar keratoderma and nail dystrophy [1]) is an autosomal dominant or …   Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • SPG3A — Spastic paraplegia 3A (autosomal dominant), also known as SPG3A, is a human gene.cite web | title = Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView… …   Wikipedia

  • AD-FSP — autosomal dominant familial spastic paraplegia …   Medical dictionary

  • AD-FSP — • autosomal dominant familial spastic paraplegia …   Dictionary of medical acronyms & abbreviations

  • Spastin — The human gene SPAST codes for the microtubule severing protein of the same name, commonly known as spastin [cite journal | author = Roll Mecak A, Vale RD | title = Structural basis of microtubule severing by the hereditary spastic paraplegia… …   Wikipedia

  • NIPA1 — Non imprinted in Prader Willi/Angelman syndrome 1 Identifiers Symbols NIPA1; FSP3; MGC102724; MGC35570; SPG6 External IDs …   Wikipedia

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