Neurol. praxi. 2016;17(6):373-376 | DOI: 10.36290/neu.2016.079

Hereditary spastic paraplegias: clinical and genetic aspects

RNDr. Anna Uhrová Mészárosová1, MUDr. Radim Mazanec, Ph.D.2, prof. MUDr. Pavel Seeman, Ph.D.1,3
1 DNA laboratoř Kliniky dětské neurologie 2. LF UK a FN Motol, Praha
2 Neurologická klinika 2. LF UK a FN Motol, Praha

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of central motor neuron disorders characterized by bilateral progressive spasticity and weakness of the lower limbs. The clinical features are caused by progressive axonal degeneration of the corticospinal tract and dorsal columns. Typical clinical symptoms are progressive gait impairment and spasticity of the lower limbs. Clinical symptoms can manifest at any age (from preschool to the elderly), symptoms onset can be very slow. HSP is caused by a pathogenic genetic variant/ mutation in one of more than 50 genes described with HSP. For the majority of patients, the causal mutation is localised in the SPAST gene (SPG4). The available treatment is only symptomatological. The disease is also known as Strümpell-Lorrain disease.

Keywords: hereditary spastic paraplegia, spastic paraparesis, hyperreflexia, spasticity, SPAST (SPG4), ATL1 (SPG3A)

Published: December 1, 2016  Show citation

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Uhrová Mészárosová A, Mazanec R, Seeman P. Hereditary spastic paraplegias: clinical and genetic aspects. Neurol. praxi. 2016;17(6):373-376. doi: 10.36290/neu.2016.079.
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