Many scientists are working and have been working to find a treatment or cure, still, no successful treatments are yet available for any of this diseases but some progress has been made during recent years. Scientific research in this field aims to understand the disease mechanism in order to develop successful treatments and to prevent the onset of symptoms in patients. Particular genetic traits appear to be linked to many of these diseases. For example, the chromosome and gene linked to Huntington’s disease, Freiderich’s ataxia, the prion genes linked to spongiform encephalopathies, as well as the triplet repeat mutations responsible for myotonic dystrophy have all been identified. Model systems in which to test potential therapies and prevention strategies have been developed and are employed to find a cure for this cruel and distressing diseases.
Familiar neurodegenerative disorders are Alzheimer’s, Parkinson’s, Huntington’s and Wilson’s disorders. Table 1 shows a list of autosomal neurodegenerative diseases including what is known about chromosomal linkage, genes, mutations and pathology.
Table 1. Autosomal dominant primary neurodegenerative diseases. Ch, chromosome; PrP, prion protein; T, tangles; LB, Lewy bodies; 1, is present or exists; AD, Alzheimer’s disease; PD, Parkinson’s disease; HD, Huntington’s disease; SOD, superoxide dismutase.
Alzheimer's disease (AD) is the most common form of dementia among older people which is a brain disorder that seriously affects a person's ability to carry out daily activities. AD begins slowly, it first involves the parts of the brain that control thought, memory and language. Over time, symptoms get worse. People may not recognize family members or have trouble speaking, reading or writing. They may forget how to brush their teeth or comb their hair. Later on, they may become anxious or aggressive, or wander away from home. Eventually, they need total care. The disease usually begins after age 60 and the risk of getting it goes up with age. The risk is also higher if a family member has had the disease. No treatment can yet stop the disease.
Amyotrophic lateral sclerosis (ALS)is a disease that attacks nerve cells called neurons in the brain and spinal cord. The job of neurons is to transmit messages from the brain and spinal cord to voluntary muscles - the ones that control arms and legs. At first, this causes mild muscle problems, some people notice trouble when walking or running, writing and may notice speech problems. Eventually they lose strength and cannot move. When the muscles in the chest fail they cannot breathe. A ventilator may help, but most people with ALS die from respiratory failure. The disease usually strikes between age 40 and 60. More men than women get it. No one knows what causes ALS. It can run in families, but usually it strikes at random. There is no cure. Medicines can relieve symptoms and, sometimes, prolong survival.
Friedreich's ataxia is an inherited disease that damages the nervous system. It affects the spinal cord and the nerves that control muscle movement in arms and legs. Symptoms usually begin between the ages of 5 and 15. The main symptom is ataxia, which is trouble coordinating movements. Specific symptoms include difficulty to walk, muscle weakness, speech problems, involuntary eye movements, scoliosis and heart palpitations. People with Friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. In severe cases, people become incapacitated. There is no cure.
There are at least eight neurodegenerative diseases that are caused by expanded CAG repeats encoding polyglutamine (polyQ) stretches. The expanded CAG repeats create an adverse gain-of-function mutation in the gene products. Of these diseases, DRPLA is most similar to Huntington disease.
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