Perry syndrome ... (Perry syndrome) - Gen DCTN1
Perry syndrome is a progressive brain disease characterized by four main signs: a pattern of abnormal movements (parkinsonism), psychiatric changes, weight loss and hypoventilation. These signs and symptoms usually appear about forty or fifty years old.
The first features Perry syndrome are parkinsonism and psychiatric changes. The signs of parkinsonism include bradykinesia, rigidity and tremors. These abnormal movements, often accompanied by changes in personality and behavior. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, apathy, alienation from friends and family as well as suicidal thoughts. Many affected individuals also show a significant unexplained weight loss in early disease. Later, affected individuals suffer hypoventilation that intensifies at night, making people wake up frequently affected. As the disease worsens, hypoventilation may lead to a lack of oxygen and a potentially fatal respiratory failure. In general, people with Perry syndrome of surviving for 5 years after they first appear the signs and symptoms. Ultimately, most affected individuals die from respiratory failure or pneumonia. Suicide is another cause of death in this disease.
This process is due to mutations in the gene DCTN1 (dynactin subunit 1), located on the short arm of chromosome 2 (2p13). This gene encodes dynactin-1 protein. P150 and P135: cells in at least two different versions of this protein are produced. Both versions of the dynactin-1 protein interacts with several other proteins to form a complex of proteins called dynactin. This complex plays a critical role in cell division and transport materials within cells. Dynactin is believed that the complex is particularly important for the proper functioning of axons.
They have identified at least 5 mutations in the gene DCTN1 people with Perry syndrome. Most of these mutations change a single amino acid in dynactin-1 protein. These genetic changes adversely affect the ability of p150 version dinactin-1 to bind to dynactin complex and microtubules. Incomplete dynactin complex has reduced capacity to transport materials within cells capacity. As a result, neurons do not function properly and eventually die. A gradual loss of neurons in areas of the brain that regulate movement, emotion and breathing underlies the signs and symptoms of Perry syndrome.
This disease is inherited as an autosomal dominant, which means that a copy of the altered gene in each cell is sufficient for the disease to be expressed. In most cases, an affected person inherits the mutation from an affected parent. However, some cases are due to 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 Perry syndrome by complete PCR amplification of exons DCTN1 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).