Our brain and spinal column are the control center of our body. If these become damaged or altered, it can affect us in a variety of ways. With modern technology, our understanding of these effects is never-ending...

Neurological Genetic Diseases

Neurological genetic diseases are those that are produced due to a variation (of different gene form) or because of a mutation (or a gene change). Most of these conditions affect the brain as opposed to the nervous system as a whole. In some cases, the genetic condition shows itself automatically while in others, it is triggered by some kind of environmental or toxic exposure. These generally happen because of the alteration of the gene due to the exposure. The ones that appear on their own are the ones that are inherited from the parents or ancestors. There is also a third type of neurological genetic diseases that occur due to a combination of the two mentioned factors.

With the neurological condition produced due to an abnormal gene, most disorders occur because the brain becomes incapable to produce some proteins that are needed for the functioning and development of the brain. While some are just mild conditions, others can be life-threatening.

Some neurological genetic diseases include:

Wilson Disease:

  • This is an example of rare genetic neurological disease that results in the retention of copper by the body of the effected.
  • In normal situations the liver is supposed to get rid of any extra copper than what is required and it is supposed to release the remaining into the bile but with Wilson Disease, the copper is accumulated in the liver. Over time, it is released into the blood stream which carries it to the brain, damaging its normal functioning.
  • The onset of the disease may vary from as early as 6 years to as late as 40. The symptom characteristic of the disease is the formation of a rusty-brown ring in the eye’s cornea.
  • There is medication available and that along with a diet with low copper content are enough to avoid the disease and the person affected by the disease can lead a normal life.

PKU or Phenylketonuria:

  • This is an example of common neurological genetic diseases that affects mainly children. In this condition, the body is incapable of processing the phenylalanine protein which is present in almost all kinds of foods. If level of this protein in the body gets too high, it can cause brain damage and lead to mental retardation.
  • Babies are tested for PKU during birth as early diagnosis and treatment can help with the condition.
  • Treatment is as simple as providing the affected with low-protein diets. There are special food products that are meant for such people and the nutrition that they cannot get from normal food is provided by the nutritional formulas.

Tay-Sachs Disease:

  • This is a neurological genetic disease that results form the build-up of fatty contents in the brain tissues and nerve cells. This causes the damage of the cells leading to neurological conditions.
  • The onset of the disease is just a few weeks from the birth of a baby and with growth, the fat deposition increases causing symptoms like deafness, blindness and the inability to swallow.
  • The child dies before the age of four in most cases.