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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Spastic paraplegia type 31 is caused by mutations in the REEP1 gene. This gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), which is found in neurons in the brain and spinal cord. The REEP1 protein is located within cell compartments called mitochondria, which are the energy-producing centers in cells, and the endoplasmic reticulum, which helps with protein processing and transport. The REEP1 protein plays a role in regulating the size of the endoplasmic reticulum and determining how many proteins it can process. The function of the REEP1 protein in the mitochondria is unknown.</p><p>REEP1 gene mutations that cause spastic paraplegia type 31 result in a short, nonfunctional protein that is usually broken down quickly. As a result, there is a reduction in functional REEP1 protein. It is unclear how REEP1 gene mutations lead to the signs and symptoms of spastic paraplegia type 31. Researchers have shown that mitochondria in cells of affected individuals are less able to produce energy, which may contribute to the death of neurons and lead to the progressive movement problems of spastic paraplegia type 31; however, the exact mechanism that causes this condition is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Spastic paraplegia type 31?"},{"bodyHtml":"<p>The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet (pes cavus). As the condition progresses, some individuals require walking support.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spastic-paraplegia-type-31","sourceDocuments":[{"name":"Spastic paraplegia type 31","reviewed":"2015-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:07.284773+00:00","label":"Causes","pageSha256":"61fffd9fb3ae4629228256a0776cdb87dd75e4450ecf4aefd75a584756221eed","sourceUrl":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-31"}],"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 31"},"schemaVersion":1}