These symptoms are accompanied by extreme physical fatigue.
In some patients, the signs worsen over time, while in others they stop after adolescence. In 10% of cases, patients suffer eye problems, intellectual impairment, loss of muscle control or deafness as a result of brain damage.
Patients with spastic paraplegia may present symptoms suggestive of other neurodegenerative diseases such as amyotrophic lateral sclerosis or cerebellar ataxia. MRI scans of the brain or spinal cord and recordings of electrical signals in the brain or muscles can help in the diagnosis. Genetic diagnosis can often confirm the disease by identifying a genetic mutation.
At the Paris Brain Institute
Our researchers are carrying out projects aimed both at developing diagnostic aid tools and at identifying the genes responsible for the variability observed between patients.
Thanks to a collaborative project involving the genotyping-sequencing platform at the Institut du Cerveau, Giovanni STEVANIN’s team has developed a diagnostic kit capable of sequencing all the genes known to be involved in hereditary spastic paraplegia, in just a few hours and with a high degree of reliability. The development of this kit saves a considerable amount of time and represents a major advance in the molecular diagnosis of these diseases. The kit is being distributed nationally and internationally.
A study led by Prof Alexandra DURR has led to the discovery of factors influencing the age of onset of type 4 hereditary spastic paraplegia. These initial results are very important in the search for modifiers of hereditary spastic paraplegia type 4 and open up new avenues of research into the impact of mutation and sex on the age of onset and severity of the disease.
The researchers in this team also studied the existence of a potential link between type 7 spastic paraplegia and cerebellar ataxia. A number of patients with spastic paraplegia also present with symptoms of cerebellar ataxia and are not diagnosed until later. The results of this research could enable earlier diagnosis and management of patients.
Khalid H. El Hachimi and his colleagues have shown similarities in the lesions of the nervous system between type 11 spastic paraplegia and Amyotrophic Lateral Sclerosis. This discovery will enable clinicians to make a precise and early diagnosis of ‘atypical’ ALS, by searching for mutations in the SPG11 gene. Furthermore, understanding the mechanisms involved in these diseases will pave the way for the development of new targeted therapies.