Paraplegia familial spastic type 8 (Spastic paraplegia type 8) - KIAA0196 gene.
The spastic paraplegia type 8 is part of a group of genetic alterations known as hereditary spastic paraplegia. These changes are characterized by spasticity and development of paraplegia. Hereditary spastic paraplegia the are divided into two types: pure and complex. Pure types involving the lower extremities. Complex types involving the lower extremities and may affect the upper extremities to a lesser degree. Spastic paraplegia complex also affect the structure or function of the brain and peripheral nervous system consists of the nerves that connect the brain and spinal cord to muscles and sensory cells that detect sensation like touch, pain, heat , and sound. The spastic paraplegia type 8 is a hereditary spastic paraplegia pure.
The disease involves spasticity of leg muscles and muscle weakness. People with this condition may also have hyperreflexia, decreased ability to feel vibrations, muscular atrophy and decreased bladder control. Signs and symptoms of spastic paraplegia type 8 usually appear in early to mid-adulthood. As the muscle weakness and spasticity worse, some people may need the help of a cane, walker or wheelchair.
This process is due to mutations in the KIAA0196 gene, located on the long arm of chromosome 8 (8q24.13). This gene encodes the protein estrumpellina. Although its exact function is unknown, this protein is active throughout the body. The structure of the protein suggests that it may interact with the cellular cytoskeleton.
They have identified at least three mutations in the gene KIAA0196 causing the spastic paraplegia type 8. These mutations change the amino acids in protein estrumpellina. A mutation in multiple families has been replaced with the amino acid valine at the amino acid phenylalanine in position 626 estrumpellina (Val626Phe or V626F). It is believed that mutations in the gene structure change estrumpellina protein. It is not known how estrumpellina altered protein causes the signs and symptoms of spastic paraplegia type 8.
This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of disease in your family.
Tests in IVAMI: in IVAMI perform detection of mutations associated with spastic paraplegia type 8 by complete PCR amplification of KIAA0196 gene exons and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).