Hereditary spastic paraplegia
A group of inherited disorders causing progressive lower limb spasticity.
Hereditary spastic paraplegia (HSP) is a group of inherited diseases characterized by progressive gait disorder due to stiffness and contraction in the lower limbs. It is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The condition results from dysfunction of long axons in the spinal cord, specifically affecting primary motor neurons, making it an upper motor neuron disease.
- First described
- 1880 by Adolph Strümpell
- Extensive description
- 1888 by Maurice Lorrain
- Term coined
- 1983 by Anita Harding
- Inheritance patterns
- autosomal dominant, autosomal recessive, X-linked recessive
- Genotypes identified
- over 70 genotypes, over 50 genetic loci
- Common gene
- SPG4 accounts for ~50% of genetically solved cases
Lore & Background
The disease was first described in 1880 by German neurologist Adolph Strümpell, and more extensively in 1888 by French physician Maurice Lorrain. In French-speaking countries, it is still called Strumpell-Lorrain disease. The term hereditary spastic paraplegia was coined by Anita Harding in 1983. Harding also classified HSP into pure and complicated forms: pure HSP presents with spasticity in the lower limbs, neurogenic bladder disturbance, and lack of vibration sensitivity; complex HSP includes additional neurological symptoms such as peripheral neuropathy, ataxia, intellectual disability, epilepsy, or dementia.
Reader's Guide
Hereditary spastic paraplegia represents a significant group of genetic disorders that primarily affect motor function through progressive spasticity in the lower limbs. Its classification into pure and complex forms, as established by Anita Harding, aids in diagnosis and understanding of symptom variability. The identification of over 70 genotypes and 50 genetic loci highlights the genetic heterogeneity of HSP, with SPG4 being the most common autosomal dominant form. The condition's pathophysiology involves length-dependent axonal degeneration of corticospinal tracts, with preserved neuronal cell bodies and no primary demyelination. Despite advances, approximately 40% of cases have unidentified causes. HSP is distinct from cerebral palsy, though some anti-spasticity medications are shared. The disease can begin at any age, with onset peaks at age 2 and around age 40, and later-onset forms often progress more rapidly. Understanding HSP contributes to broader knowledge of axonal transport, lipid metabolism, and motor neuron diseases.
Did You Know?
- SPG4 accounts for approximately 50% of all genetically solved cases of HSP.
- Symptoms may begin at any age, from infancy to older than 60 years.
More in Genetic disorders with no OMIM 1-24
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