Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness.
HSP is classified as uncomplicated, or pure, when only spinal involvement occurs, and is classified as complicated when accompanied by other system involvement or other neurologic findings such as ataxia, seizures, intellectual disability, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy.
HSP can be inherited in an autosomal dominant, autosomal recessive, x-linked recessive or maternally inherited (mitochondrial) manner.
The prevalence of all hereditary spastic paraplegias is estimated to be 2 to 6 in 100,000 people worldwide.
Indications for genetic testing:
1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Carrier status detection of known mutation
4. Prenatal diagnosis for known familial mutation
5. Genetic counseling
Fink JK. Hereditary Spastic Paraplegia Overview. GeneReviews® 2000 Aug 15 (Updated 2014 Feb 6)
National Institute of Health 2008. Hereditary Spastic Paraplegia Information Page.
Sawhney IM, Bansal SK, Upadhyay PK, et al. Evoked potentials in hereditary spastic paraplegia. Ital J Neurol Sci. 1993 Sep. 14(6):425-8.