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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Genetic changes that cause disease are called pathogenic variants. Spastic paraplegia type 5A is caused pathogenic variants in the CYP7B1 gene. This gene provides instructions for making an enzyme called oxysterol 7-alpha-hydroxylase. In the brain, oxysterol 7-alpha-hydroxylase is involved in a pathway that converts certain forms of cholesterol into hormones called neurosteroids. Neurosteroids increase the ability of nerve cells (neurons) to send signals (excitability). Oxysterol 7-alpha-hydroxylase helps maintain normal cholesterol levels and regulates the effects of neurosteroids.</p><p>The CYP7B1 gene variants that cause spastic paraplegia type 5A can reduce or eliminate the activity of oxysterol 7-alpha-hydroxylase. This can prevent the production of neurosteroids and cause cholesterols to accumulate in the brain. The abnormal buildup of cholesterols impairs neuron function and leads to neuron death. Low neurosteroid levels likely further impair neuron function by affecting their signaling ability. The loss of neurons results in the deterioration of nervous system functions (neurodegeneration) and causes the movement problems, weakness, and other signs and symptoms that are characteristic of spastic paraplegia type 5A.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-5a/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Spastic paraplegia type 5A?"},{"bodyHtml":"<p>The signs and symptoms of spastic paraplegia type 5A usually appear in adolescence, but they can begin at any time between infancy and mid-adulthood. In addition to spasticity and weakness, people with spastic paraplegia type 5A can lose the ability to sense the position of their limbs or detect vibrations with their lower limbs. They may also have muscle wasting (amyotrophy), reduced bladder control, or high arches of the feet (pes cavus). Some affected individuals have low bone density (osteopenia) or vitamin D deficiency. Affected individuals eventually require walking support, usually around 20 years after symptoms begin, or wheelchair assistance, around 30 years after symptoms begin.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-5a\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spastic-paraplegia-type-5a","sourceDocuments":[{"name":"Spastic paraplegia type 5A","reviewed":"2026-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:08.606887+00:00","label":"Causes","pageSha256":"f63633246cd8afcb881b23b430dce8d93d1218cd0303ed36b83e35ccfcb31d7b","sourceUrl":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-5a/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-5a"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Spastic paraplegia type 5A"},"schemaVersion":1}