Ataxia is a neurological disease that is mainly caused due to the deficiency of Vitamin E. The central nervous system is affected by a great degree from deficiency of Vitamin E (2). Ataxia is also caused by mutations in the TTPA (Tocopherol (alpha) Transfer Protein) gene along with Vitamin E deficiency (3). The TTPA gene is found in the liver and the brain and it is responsible for transmitting Vitamin E obtained by the body through food to different parts of the body (4). Vitamin E helps the body to fight against the damage that could be caused by the anti-radicals. The mutation of TTPA gene reduces the transmission of vitamin E throughout the body. This increases the inability to retain and use the benefits of Vitamin E and free radicals start accumulating within cells. Nerve cells present in the brain and in the spinal cord are prone to get affected and even die with such radicals if Vitamin E is not supplied to them, time to time. Damaged brain cells can lead to problems in movement and other related problems may pop up in addition to ataxia. Ataxia can also be transferred from the parent to the child where the mother may act as a carrier of the disease. This is possible only when the same trait is transferred from each of the parent.
The Importance of Vitamin E, Its Sources & Deficiency
Vitamin E is one of the most vital and important nutrients that a body demands for healthy functioning and to fight against diseases. Vitamin E can be obtained easily by consuming the correct foods and supplements that have the required amount of vitamin E. The most commonly known sources of vitamin-E are peanuts, almonds, hazelnuts and various vegetable oils, such as sunflower oil, safflower oil, soybean oil, corn oil, etc (5). Green and leafy vegetables such as spinach, broccoli, etc. are also considered to be rich in vitamin E (5). The deficiency of vitamin E or its overdose is not good for body. This is a very rare case, but infants and people with fat mal-absorption, which prevents their body from absorbing certain dietary facts, are prone to catch diseases caused due to Vitamin E deficiency. Diseases and disorders such as anemia, ataxia, skeletal myopathy, peripheral neuropathy, etc. are some of the diseases caused due to vitamin E deficiency (6). Vitamin E deficiency can be removed by consuming nearly 15 milligrams of it on a daily basis (7). This is advisable to teens, who have crossed an age of 14 years. Ataxia with isolated vitamin E is one of the many disorders caused due to Vitamin E’s deficiency.
Signs and Symptoms of Ataxia with Isolated Vitamin E Deficiency
Ataxia with isolated Vitamin E deficiency (AVED) mainly affects the brain and the spinal cord. The brain contains all the motor and sensory nerves that carry out an important role in the functioning of the body. Ataxia with isolated Vitamin E deficiency results in weakness of legs and if not treated in time, one can end up on a wheel chair. Ataxia is basically the failure of the muscle coordination resulting into an unstable gait and lack of balance (10). Partial loss of sense, touch, sensitivity, high arched foot, slow or absent reflex of the legs, etc. is symptoms of this disease. Ataxia also affects other parts of the body such as slurred speech, impaired vision, eye abnormalities, sideways curvature of the bone, etc. Some people also face the problems of yellow fatty acids getting accumulated in the eyes. Some individuals also have a tremor, such as shaking hands, but their emotional feelings are rarely affected. All these can give a knowledge about whether the person is facing Ataxia with Isolated Vitamin E Deficiency or not.
Affected Population of Ataxia with Isolated Vitamin E Deficiency
Ataxia with isolated Vitamin E deficiency was first introduced in the medical literature in the year 1981 (8). This is a very rare disease which affects men and women almost equally. There are nearly 1 to 9 people who face Ataxia with isolated Vitamin E deficiency in every 100,000 people. This disease can affect children from the age of 2 years to aged people having life of 50-60 years .
Diagnosis of Ataxia with Isolated Vitamin E Deficiency
Ataxia with isolated Vitamin E deficiency can be suspected to be present in people who happen to have the following symptoms. Ataxia with isolated Vitamin E deficient patients are found to have clumsy hands, his/ her reflexes are absent or minimal, has lost the ability to know where he’s physically present, progressive ataxia, is unable to do body movements,, which involve fast movements of the body parts, a continuous nodding movement of the head, decreased visual sharpness and so on.
One can study brain imaging and other related nerve tissues so as to know about the disease. There are still not any particular guidelines available for diagnosis of Ataxia with isolated Vitamin E deficiency; the gene TTPA is responsible for this to a very large extent. The mutation of these genes results into the disease of Ataxia with isolated Vitamin E deficiency (9). One can consult a doctor to know and confirm this disease.
Treatment for Ataxia with Isolated Vitamin E Deficiency
The most basic treatment of Ataxia with isolated Vitamin E deficiency includes lifetime supplements intake of Vitamin E in the required dose (8, 10). If in case the disease is diagnosed at an early age, then consulting appropriate doctors may help to reduce or reverse certain symptoms and effects on the body produced by Ataxia with isolated Vitamin E deficiency (8). The patients who are aged and still have Ataxia, for them the treatment works slowly and it does not affect them as fast as compared to youngsters. If there is an affected person who’s about to give birth to a child, then taking required medications and treatments i.e. of TTPA mutations can help the child to avoid Ataxia with isolated Vitamin E deficiency disease in future and lead a normal life like normal human beings. The symptoms of Ataxia with isolated Vitamin E deficiency will not develop in such case. Genetic counseling can be beneficial for the individual and their family members.
Life Expectancy in Ataxia with Isolated Vitamin E Deficiency
The life of the patients suffering ataxia with isolated vitamin E deficiency is not long. They face various problems since their teenage years. Patients suffering from ataxia with isolated vitamin E deficiency become wheelchair bound in their 20s and do not enjoy quality in their lifestyle.
Prognosis of Ataxia with Isolated Vitamin E Deficiency
The treatment for Ataxia with isolated Vitamin E deficiency is not enough to completely cure the patients. Patients suffering from Ataxia with isolated Vitamin E deficiency have poor prognosis and they become wheelchair bound at a very young age (10), i.e. in their 20s.
Ataxia with isolated vitamin E deficiency is the disease that affects the neurological part of the brain. It is caused because of the deficiency of Vitamin E which is one of the most essential vitamins to maintain good health. Vitamin E helps to absorb the fats of the body and also help to supply essential vitamins throughout the body. Vitamin E can be obtained easily by consuming vitamin E rich food, which includes peanuts, almonds, various oils, such as sunflower and safflower oils, green and leafy vegetables, such as broccoli and spinach, etc. As the name suggests, it is caused due to the deficiency of Vitamin E in the body. Deficiency of vitamin E causes the mutation of TTPA gene, which clots itself on the brain and spinal cord cells and cause harm to those cells. The mutation of these cells reduces the activity of Vitamin E causing various problems to the individuals. TTPA causes a hindrance in the activity of Vitamin E making it difficult for the body to function with great ease.
Ataxia with isolated Vitamin E deficiency can be recognized with various symptoms, such as nodding off head without knowledge, low vision and sight, absent reflexes, unaware of one’s own location, unable to do fast body movements, clumsy hands, etc. All these can be diagnosed in order to know whether the person is suffering from the same disease or not. Ataxia with isolated Vitamin E deficiency is usually transmitted through the parents who are affected with the same disease or due to the lack of Vitamin E in the body. The parents, who are suffering from active Ataxia with isolated Vitamin E deficiency act as a carrier to transmit the disease to their children. The child can be born with such diseases and its symptoms become active once the child enters his/her teenage. Ataxia with isolated Vitamin E deficiency is a rare disease and affects very few people, but the life people face after having this disease is not good. People suffering from Ataxia with isolated Vitamin E deficiency end up on wheel chair at a very young age at about 20s, due to the improper working of their body. Ataxia with isolated Vitamin E deficiency disease has no known cure till now. If the disease is recognized by the parents at a young age, then certain side diseases can be avoided, but the entire disease cannot be cured. If the parents are already affected by Ataxia with isolated Vitamin E deficiency, then they can take necessary medications and consult the doctors so that the child is not be affected by the same disease in future and he can lead a normal life.
- Rahmoune, H., Boutrid, N., Amrane, M., Chekkour, M., &Bioud, B. Ataxia in children: think about vitamin E deficiency! (Comment on: ataxia in children: early recognition and clinical evaluation). Italian Journal Of Pediatrics, (2017). doi: 10.1186/s13052-017-0378-4
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