Hereditary spastic paraplegia
- Familial spastic paraparesis
Your QuestionI am associated with a hospital in India as a trainee. Recently, we came across a case of Hereditary spastic paraplegia in a patient. We are unaware of the proper genetic testing to be carried out. Is a sample for genetic testing are required?
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HSP is diagnosed on the basis of the following:
- Characteristic clinical symptoms of slowly progressive weakness and stiffness in the legs often accompanied by urinary urgency
- Neurologic examination demonstrating damage to the nerve paths connecting the spinal cord and the brain (corticospinal tract), such as spastic weakness, exaggerated reflexes, typically associated with bilateral extensor plantar responses; often accompanied by a mild inability to sense vibration in the lower part of the legs and muscle changes of the urinary bladder
- Family history shows a pattern of inhertiance that is either autosomal dominant, autosomal recessive, or X-linked recessive inheritance
Identification of a disease-causing mutation in an HSP-causing gene (Such testing is increasingly available and can confirm the diagnosis of HSP.) 
- Fink JK. A Comparison of Hereditary Spastic Paraparesis (HSP) and Primary Lateral Sclerosis (PLS). Spastic Paraplegia Foundation, Inc.. November 22, 2013; http://sp-foundation.org/understanding-hsp-pls/overview-summary-chart/. Accessed 10/22/2014.
- Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 6, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1509/. Accessed 10/23/2014.