Hereditary spastic paraplegia
Updates to Article Attributes
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:
increased T2 signal intensity in the posterior limb of the internal capsule
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
-<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>- +<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 <a href="/articles/ataxia-clinical-sign" title="Ataxia (clinical sign)">ataxia</a> <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>cerebellar atrophy <sup>10</sup></p></li>- +<li><p><a href="/articles/diffuse-cerebellar-atrophy" title="Diffuse cerebellar atrophy">cerebellar atrophy</a> <sup>10</sup></p></li>
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