A rare neurodegenerative childhood disease that affects many
parts of the body and causes severe disability.
Ataxia refers to uncoordinated movements, such as walking.
Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin. Telangiectasias appear as tiny, red, spider-like veins.
Many conditions may cause ataxia, including alcohol abuse,
stroke, tumor, cerebral palsy, and multiple sclerosis. It is also possible to inherit a defective gene that may cause one of many ataxia variants. Ataxia-telangiectasia Ataxia-telangiectasia is inherited. This means it is passed down through families. It is an autosomal recessive trait. Both parents must provide a copy of a nonworking gene for the child to have symptoms of the disorder.
The disease results from defects in the ataxia
telangiectasia mutated (ATM) gene. Defects in this gene can lead to abnormal cell death around the body, including the part of the brain that helps coordinate movement.
Boys and girls are equally affected.
. Ataxia-telangiectasia can best be classified, according to its major clinical and pathologic features, as a predominantly cerebellar form of spinocerebellar degeneration, which is transmitted as an autosomal recessive trait and evolves ultimately to include motor neuron disease, with spinal muscular atrophy and peripheral neuropathy Function of Cerebellum The cerebellum receives information from the sensory systems, the spinal cord, and other parts of the brain and then regulates motor movements. The cerebellum coordinates voluntary movements such as posture, balance, coordination, and speech, resulting in smooth and balanced muscular activity. Pathophysiology The Ataxia-Telangiectasia Mutated (ATM) gene encodes the protein kinase ATM, which is the key regulator of cellular response to double-strand breaks (DSB) in DNA. Therefore, ataxia-telangiectasia symptoms include all the possible consequences of the perturbations in DNA damage response (DDR).
The gene, ataxia-telangiectasia mutated (ATM),
discovered in 1995, is on chromosome 11 (11q 22-23). . Normally, when a cell tries to duplicate damaged DNA, it identifies the damage at several checkpoints in the cell division cycle. It tries to repair the damage, and, if it can't repair the damage, it commits suicide through programmed cell death (apoptosis). The ATM gene plays a critical role in this process. It mobilizes several other genes try to repair the DNA damage or destroy the cell if they can't repair it. These downstream genes include tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. In A-T, the pathways that control these processes are defective. This allows cells with damaged DNA to reproduce, resulting in chromosome instability, abnormalities in genetic recombination, and an absence of programmed cell death. ATM patients are particularly sensitive to X-rays, because X-rays induce double- stranded DNA breaks, which they are unable to repair. They are also particularly susceptible to cancers that result from double-stranded DNA breaks. For example, female ATM patients have a two-fold higher risk of developing breast cancer, often before age 50. Mutations in the ATM gene are thought to come in two types:
Null mutations cause complete loss of function of the
protein, and are therefore inherited in a recessive manner and cause A-T.
Missense mutations, which produce stable, full sized
protein with reduced function, e.g., substitutions, short in- frame insertions and deletions etc. These mutations act by dominantly interfering with the normal copy of the protein. Symptoms Decreased coordination of movements (ataxia) in late childhood that can include ataxic gait (cerebellar ataxia), jerky gait, unsteadiness Decreasing mental development, slows or stops after age 10 to 12 Delayed walking Discoloration of skin areas exposed to sunlight Discoloration of skin (coffee-with-milk- colored spots) Enlarged blood vessels in skin of nose, ears, and inside of the elbow and knee Enlarged blood vessels in the whites of the eyes Jerky or abnormal eye movements (nystagmus) late in the disease Premature graying of the hair Seizures Sensitivity to radiation, including x-rays Severe respiratory infections that keep coming back (recurring) Diagnosis Cytogenetic and molecular testing MRI and CT scans Protein functionality testing Measurement of the alpha fetoprotein level in the blood. Treatment NEURODEGENERATION >L-DOPA derivatives, Dopamine Agonists, Anticholinergic (Basal Ganglia Dysfunction)
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