I 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
What is hereditary spastic paraplegia?
Hereditary spastic paraplegia
is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons
. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs leading to difficulty walking. As degeneration continues, symptoms worsen.
Last updated: 1/31/2013
What are the symptoms of hereditary spastic paraplegia?
The main symptoms include a slow, progressive, spasticity and weakness of the legs that often gets severe, requiring assistive devices. There is also difficulty with balance, clumsiness, and often muscle spasms
Last updated: 10/6/2011
How is herditary spastic paraplegia (HSP) diagnosed?
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.) 
Last updated: 10/6/2011
Which medical centers offer genetic testing for hereditary spastic paraplegia?
Research laboratories that are offering molecular genetic testing for HSP are listed in The Genetic Testing Registry (GTR). GTR
is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 7/5/2013