Authors' recommendations: Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis or Strümpell-Lorrain syndrome, is a clinically and genetically heterogeneous group of neurodegenerative disorders. HSP, which has an estimated prevalence that ranges from approximately 2 to 10 per 100,000 individuals, comprises more than 40 different subtypes, typically referred to as SPGs (for spastic paraplegia). The clinical presentation of each subtype may be classified as either pure or complex. Pure (or uncomplicated) HSP is characterized by progressive lower limb weakness and spasticity (stiffness) in the absence of additional neurological symptoms, although some patients with pure HSP may experience mild sensory disturbance and/or bladder dysfunction. In contrast, complex (or complicated) HSP is characterized by the presence of progressive lower limb weakness and spasticity in combination with additional neurological and/or non-neurological symptoms, such as cognitive impairment, dementia, seizures, signs of cerebellar dysfunction, neuropathy (peripheral nerve dysfunction), and amyotrophy (muscle wasting). HSP may be inherited in an autosomal dominant (i.e., only 1 copy of the causative gene needs to be altered in order to have the condition), autosomal recessive (i.e., both copies of the causative gene need to be altered in order to have the condition), or X-linked (i.e., caused by variants in a gene located on the X chromosome and occurring primarily in males) manner. To date, at least 16 autosomal dominant HSPs (AD-HSPs) have been described. Clinically, AD-HSP subtypes are more likely to have a pure presentation, although there is significant overlap in the clinical features of the various SPGs and some subtypes may manifest as either pure or complex HSP. As a result, the clinical diagnosis of a specific subtype may be difficult. For 11 AD-HSP subtypes, there is a clinically available gene test that may be used to assist in establishing a specific diagnosis. Finally, depending on the subtype, the age at which AD-HSP symptoms first appear in an individual is highly variable. Moreover, while all ADHSP subtypes are progressive and may eventually result in an inability to walk unassisted, the speed at which the condition progresses may vary significantly. There is no cure for AD-HSP and no way to prevent or delay onset. Treatment is based on the symptoms present and may include physical and occupational therapies, medication to treat spasticity, and the use of medical devices to assist with ambulation in the later stages of disease.

Project Status: Completed

Year Published: 2013

URL for published report: The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=15649

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

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Copyright: 2013 Winifred S. Hayes, Inc