Hereditary spastic paraplegia

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Hereditary spastic paraplegia (HSP) refers to a heterogeneous group of neurodegenerative conditions characterised by progressive degeneration of the corticospinal tracts and posterior column of the spinal cord.

Clinical presentation

In its pure phenotype, patients tend to have progressive and symmetric lower limb upper motor neurone 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.

Pathology

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.

Radiographic features

MRI

Often non-specific and variable depending on the underlying genetic type, but features can include:

corpus callosum atrophy ¹⁰
increased T2 signal intensity in the posterior limb of the internal capsule
spinal cord atrophy
ears of the lynx sign: high T2/FLAIR signal intensity at the tips of the frontal horns of the lateral ventricles ¹⁰
hypointense T2 signal of the globi pallidi (due to deposition of iron) ⁷
hydrocephalus ⁷
cerebellar atrophy ¹⁰

-<p><strong>Hereditary spastic paraplegia </strong>(<strong>HSP</strong>) refers to a heterogeneous group of <a href="/articles/neurodegenerative-disease">neurodegenerative</a> conditions characterised by progressive degeneration of the <a href="/articles/corticospinal-tract">corticospinal tracts</a> and posterior column of the <a href="/articles/spinal-cord">spinal cord</a>.</p><h4>Clinical presentation</h4><p>In its pure phenotype, patients tend to have progressive and symmetric lower limb upper motor neurone signs, including weakness, spasticity, and hyperreflexia <sup>9,10</sup>. However, many patients also have atypical features such as sensory signs, intellectual disability or dementia, or ataxia <sup>9,10</sup>.</p><h4>Pathology</h4><h5>Genetics</h5><p>There are in excess of 70 types, with most common types carrying an autosomal dominant pattern of inheritance <sup>8,10</sup>. However, up to 40% of cases may be sporadic <sup>10</sup>.</p><h4>Radiographic features</h4><h5>MRI</h5><p>Often non-specific and variable depending on the underlying genetic type, but features can include:</p><ul>
~~-<li>~~
~~-<a href="/articles/corpus-callosum-atrophy">corpus callosum atrophy</a> <sup>10</sup>~~
~~-</li>~~
~~-<li>increased T2 signal intensity in the posterior limb of the <a href="/articles/internal-capsule">internal capsule</a>~~
~~-</li>~~
~~-<li><a href="/articles/spinal-cord-atrophy">spinal cord atrophy</a></li>~~
~~-<li>~~
~~-<a href="/articles/ears-of-the-lynx-sign-brain">ears of the lynx sign</a>: high T2/FLAIR signal intensity at the tips of the frontal horns of the lateral ventricles <sup>10</sup>~~
~~-</li>~~
~~-<li>hypointense T2 signal of the globi pallidi (due to deposition of iron) <sup>7</sup>~~
~~-</li>~~
~~-<li>~~
~~-<a href="/articles/hydrocephalus">hydrocephalus</a> <sup>7</sup>~~
~~-</li>~~
~~-<li>cerebellar atrophy <sup>10</sup>~~
~~-</li>~~
+<p><strong>Hereditary spastic paraplegia </strong>(<strong>HSP</strong>) refers to a heterogeneous group of <a href="/articles/neurodegenerative-disease">neurodegenerative</a> conditions characterised by progressive degeneration of the <a href="/articles/corticospinal-tract">corticospinal tracts</a> and posterior column of the <a href="/articles/spinal-cord">spinal cord</a>.</p><h4>Clinical presentation</h4><p>In its pure phenotype, patients tend to have progressive and symmetric lower limb upper motor neurone signs, including weakness, spasticity, and hyperreflexia <sup>9,10</sup>. However, many patients also have atypical features such as sensory signs, intellectual disability or dementia, or ataxia <sup>9,10</sup>.</p><h4>Pathology</h4><h5>Genetics</h5><p>There are in excess of 70 types, with the most common types carrying an autosomal dominant pattern of inheritance <sup>8,10</sup>. However, up to 40% of cases may be sporadic <sup>10</sup>.</p><h4>Radiographic features</h4><h5>MRI</h5><p>Often non-specific and variable depending on the underlying genetic type, but features can include:</p><ul>
+<li><p><a href="/articles/corpus-callosum-atrophy">corpus callosum atrophy</a> <sup>10</sup></p></li>
+<li><p>increased T2 signal intensity in the posterior limb of the <a href="/articles/internal-capsule">internal capsule</a></p></li>
+<li><p><a href="/articles/spinal-cord-atrophy">spinal cord atrophy</a></p></li>
+<li><p><a href="/articles/ears-of-the-lynx-sign-brain">ears of the lynx sign</a>: high T2/FLAIR signal intensity at the tips of the frontal horns of the lateral ventricles <sup>10</sup></p></li>
+<li><p>hypointense T2 signal of the globi pallidi (due to deposition of iron) <sup>7</sup></p></li>
+<li><p><a href="/articles/hydrocephalus">hydrocephalus</a> <sup>7</sup></p></li>
+<li><p>cerebellar atrophy <sup>10</sup></p></li>

References changed:

1. Hourani R, El-Hajj T, Barada W, Hourani M, Yamout B. MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia. AJNR Am J Neuroradiol. 2009;30(5):936-40. <a href="https://doi.org/10.3174/ajnr.A1483">doi:10.3174/ajnr.A1483</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/19193756">Pubmed</a>
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. <a href="https://doi.org/10.1148/radiol.14141715">doi:10.1148/radiol.14141715</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25611737">Pubmed</a>
3. Proukakis C, Cross H, Patel H, Patton M, Valentine A, Crosby A. Troyer Syndrome Revisited. A Clinical and Radiological Study of a Complicated Hereditary Spastic Paraplegia. J Neurol. 2004;251(9):1105-10. <a href="https://doi.org/10.1007/s00415-004-0491-3">doi:10.1007/s00415-004-0491-3</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/15372254">Pubmed</a>
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. <a href="https://doi.org/10.1007/s00234-005-1415-3">doi:10.1007/s00234-005-1415-3</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/16143870">Pubmed</a>
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. <a href="https://doi.org/10.1212/wnl.46.6.1507">doi:10.1212/wnl.46.6.1507</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/8649538">Pubmed</a>
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. <a href="https://doi.org/10.1111/j.1552-6569.2008.00327.x">doi:10.1111/j.1552-6569.2008.00327.x</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/19040626">Pubmed</a>
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. <a href="https://doi.org/10.3389/fneur.2018.01117">doi:10.3389/fneur.2018.01117</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/30713518">Pubmed</a>
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. <a href="https://doi.org/10.1136/jnnp.69.2.150">doi:10.1136/jnnp.69.2.150</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/10896685">Pubmed</a>
1. Hourani R, El-Hajj T, Barada WH et-al. MR imaging findings in autosomal recessive hereditary spastic paraplegia. AJNR Am J Neuroradiol. 2009;30 (5): 936-40. <a href="http://dx.doi.org/10.3174/ajnr.A1483">doi:10.3174/ajnr.A1483</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/19193756">Pubmed citation</a><span class="auto"></span>
2. Agosta F, Scarlato M, Spinelli EG et-al. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. Radiology. 2015;276 (1): 207-18. <a href="http://dx.doi.org/10.1148/radiol.14141715">doi:10.1148/radiol.14141715</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/25611737">Pubmed citation</a><span class="auto"></span>
3. Proukakis C, Cross H, Patel H et-al. Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J. Neurol. 2004;251 (9): 1105-10. <a href="http://dx.doi.org/10.1007/s00415-004-0491-3">doi:10.1007/s00415-004-0491-3</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/15372254">Pubmed citation</a><span class="auto"></span>
4. Hedera P, Eldevik OP, Maly P et-al. Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. Neuroradiology. 2005;47 (10): 730-4. <a href="http://dx.doi.org/10.1007/s00234-005-1415-3">doi:10.1007/s00234-005-1415-3</a> - <a href="http://www.ncbi.nlm.nih.gov/pubmed/16143870">Pubmed citation</a><span class="auto"></span>
5. Fink JK, 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. <a href="http://www.ncbi.nlm.nih.gov/pubmed/8649538">Pubmed citation</a><span class="auto"></span>
6. M. Riverol, L. Samaranch, B. Pascual, P. Pastor, J. Irigoyen, M.A. Pastor, P. De Castro, J.C. Masdeu. 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. (2009) Journal of Neuroimaging. 19 (1): 52. <a href="https://doi.org/10.1111/j.1552-6569.2008.00327.x">doi:10.1111/j.1552-6569.2008.00327.x</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/19040626">Pubmed</a> <span class="ref_v4"></span>
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. 2018;9:1117. <a href="https://doi.org/10.3389/fneur.2018.01117">doi:10.3389/fneur.2018.01117</a>
9. McDermott C. Hereditary Spastic Paraparesis: A Review of New Developments. Journal of Neurology, Neurosurgery & Psychiatry. 2000;69(2):150-60. <a href="https://doi.org/10.1136/jnnp.69.2.150">doi:10.1136/jnnp.69.2.150</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/10896685">Pubmed</a>