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?
Hereditary spastic paraplegia (HSP) 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. This leads to difficulty walking. As degeneration continues, symptoms worsen. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.
Last updated: 4/24/2016
What are the symptoms of hereditary spastic paraplegia?
The hallmark feature of hereditary spastic paraplegia is progressive weakness and spasticity (stiffness) of the legs. Symptoms typically develop bertween the second and fourth decades (although earlier and later presentation has been described). Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually, individuals with HSP may require the assistance of a cane, walker, or wheelchair. In some cases, additional symptoms may occur. These can include:
How is hereditary 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 inheritance that is either autosomal dominant, autosomal recessive, or X-linked recessive
Exclusion of other disorders that cause spasticity and weakness in the legs
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: 10/6/2016
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
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