Genetic Disorders
of the Nervous System

Genetic disorders are diseases that are caused primarily by a particular genetic mutation which can generally be passed from one individual to their offspring. These diseases are also sometimes referred to as familial or hereditary disorders or diseases because they tend to run in families and are acquired through heredity. Genetic diseases can affect many different tissues and organs in the body, depending on the disease. Some familial diseases of the nervous system primarily affect the nervous system and have little or no effect on other parts of the body (such as Huntington's disease or Tay-Sachs). However, some of these diseases affect both the nervous system and other systems in the body (such as von Hippel Lindau and Neurofibromatosis). This page focuses on hereditary diseases that have at least some profound effect on the nervous system, but some may have other effects as well.

There are a number of different modes of inheritance for genetic disorders. In other words, the way in which these diseases are passed from parents to their offspring is different. For example, some genetic diseases are dominant meaning that you need only one bad copy of the involved gene to get the disorder. On the other hand, some are recessive, which means that a single copy of the disease gene is not enough to cause symptoms, both copies of that gene must be bad to inherit the disease (you get one copy from each parent). There are a number of other modifiers that affect the way these diseases are inherited or present, including sex-linking, variable penetrance and so on. These will be presented for each disease if they apply.

Genetic Disorders of the Nervous System

Huntington's Disease
Huntington's disease is a degenerative disorder of the nervous system that is based on a single gene mutation.

This genetic disease predisposes to growth of certain types of tumors and has two different types:

Polycystic Kidney Disease
While named for its effect on the kidney, this genetic disease can have important effects on the brain as well.

Tay-Sachs Disease
A familial disorder that affects children, leading to profound degeneration of the brain in affected individuals.

Tuberous Sclerosis
This hereditary disease leads to lesions in the brain (including so called "tubers") that predispose individuals to epilepsy and other problems.

von Hippel Lindau Syndrome
vHL has effects in several organs of the body but can affect the brain and spinal cord as well.

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Important Note: This site is not intended to offer medical advice. Every patient is different, and only your personal physician can help to counsel you about what is best for your situation. What we offer is general reference information about various disorders and treatments for your education.

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