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.
Craig Blackstone is a Neurologist in Boston, Massachusetts. Blackstone has been practicing medicine for over 29 years and is rated as a Distinguished expert by MediFind in the treatment of Spastic Paraplegia Type 3A. He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Spastic Paraplegia Type 7, Spastic Paraplegia Type 2, Paraplegia, and Spasticity.
Keith Mckee is a Physiatrist and a Neurologist in Cleveland, Ohio. Mckee has been practicing medicine for over 22 years and is rated as a Distinguished expert by MediFind in the treatment of Spastic Paraplegia Type 3A. He is also highly rated in 33 other conditions, according to our data. His top areas of expertise are Troyer Syndrome, Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome, Spastic Paraplegia Type 4, and Spastic Paraplegia Type 7. Mckee is currently accepting new patients.
Yasushi Kisanuki is a Neurologist in Columbus, Ohio. Kisanuki has been practicing medicine for over 29 years and is rated as a Distinguished expert by MediFind in the treatment of Spastic Paraplegia Type 3A. He is also highly rated in 41 other conditions, according to our data. His top areas of expertise are Hereditary Ataxia, Spastic Paraplegia Type 7, Spastic Paraplegia Type 2, and Spastic Paraplegia Type 11. Kisanuki is currently accepting new patients.
Published Date: March 01, 2015Published By: National Institutes of Health
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