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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ATL1 gene cause spastic paraplegia type 3A. The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. Atlastin-1 is involved in the growth of specialized extensions of neurons, called axons, which transmit nerve impulses that signal muscle movement. The protein also likely plays a role in the normal functioning of multiple structures within neurons and in distributing materials within these cells.</p><p>ATL1 gene mutations likely lead to a shortage of normal atlastin-1 protein, which impairs the functioning of neurons, including the distribution of materials within these cells. This lack of functional atlastin-1 protein may also restrict the growth of axons. These problems can lead to the abnormal functioning or death of the long neurons of the corticospinal tracts. As a result, the neurons are unable to transmit nerve impulses, particularly to other neurons and muscles in the lower extremities. This impaired nerve function leads to the signs and symptoms of spastic paraplegia type 3A.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-3a/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Spastic paraplegia type 3A?"},{"bodyHtml":"<p>In addition to spasticity and weakness, which typically affect both legs equally, people with spastic paraplegia type 3A can also experience progressive muscle wasting (amyotrophy) in the lower limbs, reduced bladder control, an abnormal curvature of the spine (scoliosis), loss of sensation in the feet (peripheral neuropathy), or high arches of the feet (pes cavus). The signs and symptoms of spastic paraplegia type 3A usually appear before the age of 10; the average age of onset is 4 years. In some affected individuals the condition slowly worsens over time, sometimes leading to a need for walking support.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-3a\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"spastic-paraplegia-type-3a","sourceDocuments":[{"name":"Spastic paraplegia type 3A","reviewed":"2015-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:07.613014+00:00","label":"Causes","pageSha256":"9d8f96206ea5b5cf959e7aeeea8e62b1fa650e1087355a8f421a333bc719eba8","sourceUrl":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-3a/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-3a"}],"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 3A"},"schemaVersion":1}