Neurodegeneration associated with pantotenatoquinasa (Pantothenate kinase-associated neurodegeneration) - Gen PANK2.
Neurodegeneration associated pantotenatoquinasa (formerly Hallervorden-Spatz syndrome) is a disorder of the nervous system characterized by progressive difficulty of mobility due to an abnormal iron accumulation in certain brain areas. In general, the signs and symptoms of the disease begin in childhood and include abnormal movements such as involuntary muscle spasms, stiffness and problems walking that worsen over time. Many affected individuals also develop dysarthria, and some develop vision loss. In addition, affected people may develop dementia and psychiatric symptoms such as behavioral problems, personality changes and depression.
They described classical and atypical forms of the disease. The classic form usually appears in early childhood, causing serious mobility problems that worsen quickly. The atypical form appears later in childhood or adolescence, and progresses more slowly. Signs and symptoms vary from one type to another, but causes atypical speech defects and psychiatric problems, more likely than the classical form.
This process is due to mutations in the gene PANK2, located on the short arm of chromosome 20 (20p13), encoding pantotenatoquinasa-2 enzyme. This enzyme is active in the mitochondria, where it plays a critical role in the formation of the molecule coenzyme A. Coenzyme A is essential for the production of energy from carbohydrates, fats and some amino acids. The pantotenatoquinasa encoded by the gene is active in PANK2 cells throughout the body, including the brain nerve cells.
They have identified about 100 mutations in the gene causing neurodegeneration PANK2 associated pantotenatoquinasa. Mutations in the gene PANK2 lead to the synthesis of an abnormal version of pantotenatoquinasa-2, or prevent the cells produce it . A lack of functional pantotenatoquinasa-2, the synthesis of coenzyme A is interrupted, causing them to accumulate in the brain potentially harmful compounds. This accumulation leads to inflammation and damage tissues, and allows the abnormally accumulate iron in parts of the brain.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with neurodegeneration associated pantotenatoquinasa, by complete PCR amplification of exons PANK2 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).