Spastic Paraplegia Type 3ASymptoms, Doctors, Treatments, Advances & More
Learn About Spastic Paraplegia Type 3A
Spastic paraplegia type 3A is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by muscle stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary spastic paraplegias are often divided into two types: pure and complex. The pure types involve only the lower limbs, while the complex types also involve other areas of the body; additional features can include changes in vision, changes in intellectual functioning, difficulty walking, and disturbances in nerve function (neuropathy). Spastic paraplegia type 3A is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported.
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.
Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary spastic paraplegia cases.
Spastic paraplegia type 3A is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In approximately 95 percent of cases, an affected person inherits the mutation from one affected parent.
Vanderbilt Medical Group- Teleneurology
. Dr. Brown is rated as an Advanced provider by MediFind in the treatment of Spastic Paraplegia Type 3A. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Movement Disorders, Parkinson's Disease, Huntington Disease, and Hereditary Ataxia. Dr. Brown is board certified in .
Ballad Health Medical Associates Neurology
. Dr. Hyder is rated as an Experienced provider by MediFind in the treatment of Spastic Paraplegia Type 3A. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Generalized Tonic-Clonic Seizure, Seizures, Parkinson's Disease, and Movement Disorders. Dr. Hyder is board certified in .
Reading Hospital
. Dr. Khoshnoodi is rated as an Experienced provider by MediFind in the treatment of Spastic Paraplegia Type 3A. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Peripheral Neuropathy, Miller-Fisher Syndrome, Guillain-Barre Syndrome, and Chronic Polyradiculoneuritis. Dr. Khoshnoodi is board certified in American Board Of Psychiatry And Neurology.
Summary: The Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP) is focused on gathering longitudinal clinical data as well as biological samples (skin and/or blood and/or saliva) from male and female patients, under the age of 30, who exhibited early onset symptoms of HSP with (1) a clinical diagnosis of hereditary spastic paraplegia and (2) the presence of variants in H...
Published Date: March 01, 2015
Published By: National Institutes of Health