Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Ibrahim D, Elfeky M, et al. Hereditary spastic paraplegia. Reference article, Radiopaedia.org (Accessed on 04 Nov 2024) https://doi.org/10.53347/rID-42174
Hereditary spastic paraplegia (HSP) refers to a heterogeneous group of neurodegenerative conditions characterized by progressive degeneration of the corticospinal tracts and posterior column of the spinal cord.
In its pure phenotype, patients tend to have progressive and symmetric lower limb upper motor neuron signs, including weakness, spasticity, and hyperreflexia 9,10. However, many patients also have atypical features such as sensory signs, intellectual disability or dementia, or ataxia 9,10.
Genetics
There are in excess of 70 types, with the most common types carrying an autosomal dominant pattern of inheritance 8,10. However, up to 40% of cases may be sporadic 10.
MRI
Often non-specific and variable depending on the underlying genetic type, but features can include:
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2. Agosta F, Scarlato M, Spinelli E et al. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes Toward a Unified Pattern of Central Nervous System Damage. Radiology. 2015;276(1):207-18. doi:10.1148/radiol.14141715 - Pubmed
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4. Hedera P, Eldevik O, Maly P, Rainier S, Fink J. Spinal Cord Magnetic Resonance Imaging in Autosomal Dominant Hereditary Spastic Paraplegia. Neuroradiology. 2005;47(10):730-4. doi:10.1007/s00234-005-1415-3 - Pubmed
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5. Fink J, Heiman-Patterson T, Bird T et al. Hereditary Spastic Paraplegia: Advances in Genetic Research. Hereditary Spastic Paraplegia Working Group. Neurology. 1996;46(6):1507-14. doi:10.1212/wnl.46.6.1507 - Pubmed
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6. Riverol M, Samaranch L, Pascual B et al. Forceps Minor Region Signal Abnormality "Ears of the Lynx": An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene (SPG11) on Chromosome 15. J Neuroimaging. 2009;19(1):52-60. doi:10.1111/j.1552-6569.2008.00327.x - Pubmed
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7. da Graça F, de Rezende T, Vasconcellos L, Pedroso J, Barsottini O, França M. Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives. Front Neurol. 2019;9:1117. doi:10.3389/fneur.2018.01117 - Pubmed
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8. Turner M & Talbot K. Mimics and Chameleons in Motor Neurone Disease. Pract Neurol. 2013;13(3):153-64. doi:10.1136/practneurol-2013-000557 - Pubmed
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9. McDermott C, White K, Bushby K, Shaw P. Hereditary Spastic Paraparesis: A Review of New Developments. J Neurol Neurosurg Psychiatry. 2000;69(2):150-60. doi:10.1136/jnnp.69.2.150 - Pubmed
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10. Shribman S, Reid E, Crosby A, Houlden H, Warner T. Hereditary Spastic Paraplegia: From Diagnosis to Emerging Therapeutic Approaches. Lancet Neurol. 2019;18(12):1136-46. doi:10.1016/S1474-4422(19)30235-2 - Pubmed
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