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Chromosomes

Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain disease

Causes, biological mechanisms, symptoms, diagnosis and treatment

Last update: 15/10/2024 Reading time: 1min

Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain disease is a highly heterogeneous group of diseases, both clinically, with variable symptoms and course, and genetically, with many genes known to be involved. The main symptom of the disease is stiffness (spasticity) and weakness of the lower limbs, leading to severe walking difficulties due to damage to the motor neurons.

These diseases affect around 3 out of every 100,000 people in Europe, usually starting in adulthood but can also appear in childhood. These diseases are said to be chronic, progressing more or less slowly depending on the patient, with some patients becoming totally unable to walk, while others show very few symptoms several years after diagnosis.

Causes and biological mechanisms

The causes and biological mechanisms of Spastic Paraplegia

Spastic paraplegia is mainly inherited in several ways (autosomal dominant, recessive or X-linked).

Many chromosomal regions are now known to carry mutations responsible for these diseases, and more than 70 genes have been identified.

The causes of spastic paraplegia are characterised by a degeneration of the corticospinal neurons that control voluntary motricity, i.e. the transmission of information from the brain to the muscles via the spinal cord, leading to the motor disorders observed in patients.

Cerebellar ataxia, which is sometimes observed, is a sign of degeneration of the neurons in the cerebellum.

Symptoms and diagnosis

Symptoms and diagnosis of spastic paraplegia

In the so-called 'pure' forms of the disease, which are the most common, the disease is characterised by stiffness, spasticity, and weakness of the lower limbs, leading to severe walking difficulties. In more complex forms, balance disorders, eye damage, deafness and intellectual impairment may be associated with spasticity.

The diagnosis of spastic paraplegia is based on a clinical examination, a study of the family history and a genetic analysis to find a causative mutation.

Treatments

Treatments for spastic paraplegia

There is currently no cure for spastic paraplegia, but treating symptoms such as spasticity can bring relief to sufferers. Physiotherapy, occupational therapy, balneotherapy and treatments based on muscle relaxants or botulinum toxin can help improve motor skills.

Our news on the subject

Image de l'ADN
Loss of spatacsin function is accompanied by motoneuron degeneration.
A recent study carried out by Frédéric Darios in the team led by Alexis Brice at the Institut du Cerveau - ICM highlights the importance of spatacsin, a protein affected in pathologies such as hereditary spastic paraplegia. ...
04.03.2017 Research, science & health
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Hereditary spastic paraplegia and ALS: similarities in nervous system lesions
Hereditary spastic paraplegias are a heterogeneous group of pathologies and share clinical similarities with other neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). ...
04.01.2016 Research, science & health
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Hereditary spastic paraplegia: discovery of a new mechanism
A team at the Institut du Cerveau - ICM showed that different mutations of one gene, ALDH18A1, are associated with several types of hereditary spastic paraplegias and different modes of transmission. Moreover, the researchers identified a new blood ...
11.24.2015 Research, science & health
motoneurone
Motorneurone diseases : 18 new causative genes
A research team of the Institut du Cerveau - ICM institute took part to an international study identifying 18 new genes implicated in hereditary spastic paraplegias (HSP). This work, published on January the 31th on the prestigious website of the ...
02.06.2014 Research, science & health
MRI images of a SPG26 affected subject, with an enlarged corpus callosum in B (red arrow) and a cerebral atrophy in B’, (white arrow).
Hereditary Spastic Paraplegia: an improvement
Hereditary Spastic Paraplegia (HSP) are a genetically heterogeneous group of invalidating neurological disorders characterized by a progressive difficulty walking due to stiff legs (spastic) and additional neurological signs like epilepsy, ataxia ...
07.31.2013 Research, science & health
Bottom line, from left to right : atrophy of the corpus callosum and of the cerebellum, abnormal structures of the mitochondrial network.
Hereditary spastic paraplegias: mutations in three novel genes highlight lipid metabolism in motor neuron degeneration
A research team directed by Giovanni Stevanin and Alexis Brice from the Brain and Spine Institute, in collaboration with other teams of the international SPATAX network (coordinator, Alexandra Durr), have identified 3 new causative genes in ...
04.23.2013 Research, science & health
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