Donate now | Be a volunteer | Contact Us

The spastic paraplegia

Several names can be given to spastic paraplegia. In Quebec, it is generally called hereditary or familial spastic paraplegia. Sometimes, the term paraparesis is used. On the US side, it is often referred as hereditary spastic paraparesis or familial spastic paraplegia. In Europe, the term Strümpell-Lorrain disease is used.

Over 70 different forms of spastic paraplegia have been discovered. Three genetic acquisition modes are possible: autosomal dominant (related to the SPG4 gene acquisition mode), autosomal recessive or X-linked. Mutations in the SPG4 gene are the most common and account for about 40% of autosomal dominant forms of acquisition.

Although in Quebec and Canada the prevalence is not well known, it is estimated in several other countries between 2-6 and sometimes between 5-10 cases per 100 000 individuals.

Spastic paraplegia is a genetic disease that causes degeneration of the central nervous system; more specifically degeneration of nerve fibers that are responsible for controlling voluntary movements. It causes reduced efficiency of signals conducted to the brain along the spinal cord, causing stiffness (spasticity) and progressive weakness of the lower limbs characterized by gait disturbance or complete paralysis of the lower limbs.

The evolution of these symptoms is highly variable from one individual to another, and even among members of the same family. Urinary dysfunctions are also sometimes observed. More rarely, some individuals may have difficulty with fine motor skills.

Symptoms usually appear between 20 and 40 years of age, but can sometimes start early in childhood.

There are two forms of the disease, which are the pure form and complex form:

  • The pure form, the most frequent, resulting primarily by stiffness of the lower limbs creating difficulty to walk or the inability to move;
  • The complex form adds to the clinical manifestations of the pure form other symptoms, such as mental retardation, impaired vision, skin disorders, deafness, etc.

Currently, no treatment is available to prevent, stop or reverse the symptoms of spastic paraplegia.

* These information were reviewed by Dr. Guy A Rouleau, M. D., Ph. D., FRCPC, O.Q.

 

References :

Canbaz, D., Kirimtay, K., Karaca, E., & Karabay, A. (2011). SPG4 gene promoteur regulation via Elk1 transcription factor. Journal of Neurochemistry, 117, 724–734. doi: 10.1111/j.1471-4159.2011.07243.x

Encyclopédie Orphanet Grand Public (2007). La maladie de Strümpell-Lorrain : paraplégie spastique familiale, Orphanet : Paris. Web page available at https://www.orpha.net/data/patho/Pub/fr/StrumpellLorrain-FRfrPub655.pdf

Havlicek, S., Kohl, Z., Mishra, H. K., Prots, I., Eberhardt, E., Denguir, N., Wend, H., Plötz, S., Boyer, L., Marchetto, M. C., Aigner, S., Sticht, H., Groemer, T. W., Hehr, U., Lampert, A., Schlötzer-Schrehardt, U., Winkler, J., Gage, F. H., & Winner, B. (2014). Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients’ neurons. Human Molecular Genetics, 23(10), 2527–2541. doi: 10.1093/hmg/ddt644

Pountney, D. (2010). Identifying and managing hereditary spastic paraplegia. British Journal of Neuroscience Nursing, 6(4). Web page available at http://connection.ebscohost.com/c/articles/51502332/identifying-managing-hereditary-spastic-paraplegia

Spastic Paraplegia Foundation. About HSP, Fremont, CA. Web page available at http://sp-foundation.org/understanding-pls-hsp/hsp.html

Spastic paraplegia

1% Donated/$493,000 To Go
Help us reach our 500 000$ goal. To support us, make a donation or join our...
Donate Now
We need your help!

Become a volunteer

We need your help. Together, let’s improve the quality of life of people affected by spastic paraplegia. Sign up and join our group of volunteers!

Join us!

Conférence annuelle 2012

(Only available in French) Plus de 120 personnes y ont participé de plus 26 états des Etats-Unis ainsi que des personnes venant d’Australie, d’Inde, de...
Read More

La maladie de Strümpell-Lorrain

(Only available in French) “Mon père s’est retrouvé dans l’incapacité de se déplacer relativement tôt, et il a dû alors utiliser une chaise roulante. Malgré...
Read More

Le rebond pour Marc Laurence

(Only available in French) Marc Laurence se déplace sur un terrain de basket-ball comme peu de joueurs savent le faire, en dribblant et en faisant avancer son fauteuil roulant...
Read More