Learn About Spastic Paraplegia Type 4

What is the definition of Spastic Paraplegia Type 4?

Spastic paraplegia type 4 (also known as SPG4) is the most common of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types generally involve only spasticity of the lower limbs and walking difficulties. The complex types involve more widespread problems with the nervous system; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). In complex forms, there can also be features outside of the nervous system. Spastic paraplegia type 4 is usually a pure hereditary spastic paraplegia, although a few complex cases have been reported.

Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), ankle spasms, high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia type 4 generally affects nerve and muscle function in the lower half of the body only.

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What are the causes of Spastic Paraplegia Type 4?

Mutations in the SPAST gene cause spastic paraplegia type 4. The SPAST gene provides instructions for producing a protein called spastin. Spastin is found throughout the body, particularly in certain nerve cells (neurons). The spastin protein plays a role in the function of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules are also involved in transporting cell components and facilitating cell division. Spastin likely helps restrict microtubule length and disassemble microtubule structures when they are no longer needed. Mutations in spastin impair the microtubules' ability to transport cell compartments (organelles), especially in nerve cells; researchers believe this contributes to the major signs and symptoms of spastic paraplegia type 4.

How prevalent is Spastic Paraplegia Type 4?

The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in 100,000 people worldwide.

Is Spastic Paraplegia Type 4 an inherited disorder?

This condition 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 most cases, an affected person inherits the mutation from one affected parent. The remaining cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.

Who are the top Spastic Paraplegia Type 4 Local Doctors?
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Highly rated in
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Neurology

15 Parkman St Office

Boston, MA 

Craig Blackstone is a Neurologist in Boston, Massachusetts. Dr. Blackstone has been practicing medicine for over 28 years and is rated as an Elite doctor by MediFind in the treatment of Spastic Paraplegia Type 4. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Spastic Paraplegia Type 7, Spastic Paraplegia Type 4, Paraplegia, and Spasticity. He is board certified in Neurology and licensed to treat patients in Massachusetts.

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66
conditions

University Of Tübingen

Tuebingen, BW, DE 

Ludger Schols is in Tuebingen, Germany. Schols is rated as an Elite expert by MediFind in the treatment of Spastic Paraplegia Type 4. He is also highly rated in 66 other conditions, according to our data. His top areas of expertise are Spastic Paraplegia Type 7, Spastic Paraplegia Type 2, Spastic Paraplegia Type 4, and Paraplegia.

 
 
 
 
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Elite
Highly rated in
34
conditions

University Of Tübingen

Tuebingen, BW, DE 

Rebecca Schule is in Tuebingen, Germany. Schule is rated as an Elite expert by MediFind in the treatment of Spastic Paraplegia Type 4. She is also highly rated in 34 other conditions, according to our data. Her top areas of expertise are Spastic Paraplegia Type 7, Paraplegia, Spasticity, and Spastic Paraplegia Type 2.

What are the latest Spastic Paraplegia Type 4 Clinical Trials?
Studying the Presymptomatic and Early Phase of SPG4
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What are the Latest Advances for Spastic Paraplegia Type 4?
Identification of SPAST gene variant in a pedigree affected with hereditary spastic paraplegia type 4.
Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).
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