Paraplegia familial spastic type 6 (Spastic paraplegia type 6 -SPG6-) - Gen NIPA1.
Paraplegia (or paraparesis) familial spastic type 6 (SPG6) is one of spastic paraplegia known as heritable genetic damage. 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 the also affect the structure or function of the brain and peripheral nervous system
The spastic paraplegia type 6 is a hereditary spastic paraplegia of pure type, characterized by the development of a slow, progressive weakness and spasticity of the lower limbs. The rate of progression and severity of symptoms vary among affected individuals. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disease, urinary symptoms such as incontinence may occur. In some cases, weakness and stiffness can spread to other parts of the body.
This process is due to mutations in the gene NIPA1, located on the long arm of chromosome 15 (15q11.2). This gene encodes a transporter magnesium is associated with endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in the development and maintenance of the nervous system.
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 alteration. In some 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 6, by complete PCR amplification of exons NIPA1 gene, 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).