Most neurological degeneration is not inherited. There are some hereditary conditions that are associated with neurological degeneration including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Huntington Disease and Parkinson disease, to name a few.
Some of these conditions have known genetic, and therefore hereditary, components and a family history of one of these conditions can increase your chances of developing that disease.
When Should I Suspect a Neurological Degeneration Condition May Be Hereditary?
If you have a personal or family history of any of the following, a genetic consultation may be appropriate for you:
- Senility or dementia
- Alzheimer disease
- Parkinson disease
- Tremors or muscle spasms
- Problems with speech
- Difficulty with hearing from an early age
- history of strokes
- Neurological disease
- Muscle weakness
- Genetic condition
- A seizure disorder
- Uncontrolled arm & leg movements
What are the most common Neurological Degeneration hereditary conditions?
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
CADASIL is a neurological condition characterized by a personal and/or family history of migraines, stroke-like episodes before the age of 60, cognitive and behavioral disturbances, and dementia. Clinical signs and symptoms are non-specific and present in different ways and at different ages. In most cases, an individual with CADASIL will have at least one family member with the clinical signs listed above. Treatment for CADASIL is supportive for the symptoms being expressed. The gene that is involved in CADASIL is called NOTCH3. Approximately 90% of individuals with CADASIL will have an identifiable genetic alteration in the NOTCH3 gene and genetic testing is available for individuals with a personal and/or family history of CADASIL.
Huntington Disease (HD)
HD is an inherited neurodegenerative brain disorder that affects motor skills, causes personality and psychiatric changes, and alters cognitive abilities. The average age of onset of symptoms is between the ages of 35-45 years, although there are some individuals (approximately 5% of those with HD) who have onset of symptoms under the age of 21. Unfortunately, there are no effective treatments or cures and HD causes death, on average, 17 years after the diagnosis is made. HD is inherited in an autosomal dominant fashion and genetic testing is available for individuals at-risk of developing HD, but genetic counseling, psychological counseling and a neurological exam are typically required before an individual has genetic testing.
Parkinson Disease (PD)
PD is a degenerative neurological disorder of the brain caused by a depletion of a neurotransmitter called dopamine. Symptoms of PD include, but are not limited to, slowing of moving and feeling (bradykinesia), stiff joints and muscles, (rigidity), tremors, jumbled speech (dysarthria) and dementia. PD affects individuals of all ethnic backgrounds and most individuals are diagnosed around age 60, although a significant number of individuals are diagnosed before the age of 50. Treatment for PD is supportive and there are many on-going clinical trials studying various methods of treatment. The genetics of PD is not as straightforward as some other conditions and numerous genes have been implicated. There is genetic testing available for some rare forms of PD, but most genetic testing is still in the research phase.
Is there a genetic test for hereditary neurological degeneration disorders?
Genetic testing is available for some hereditary neurological degeneration conditions.
The family history, ages at diagnosis and neurological features in a family are used to determine the likelihood of a hereditary neurological degeneration syndrome and, if a syndrome is suspected, which gene(s) should be analyzed.
It is generally most informative if a relative who has had neurological degeneration is tested first, to determine if an identifiable gene mutation exists in the family. If a mutation is identified in an affected relative, at-risk family members may elect to be tested for the familial mutation; those testing positive have a significantly increased risk of developing neurological disease, while those relatives testing negative may be told that they have the general population risk.
What should I do now?
Please use this section as background education. It is not a substitute for a clinical visit to our Center or discussion of a possible hereditary condition with your physician.
Make an appointment with your physician to discuss your risk of a hereditary neurological degeneration.
Make an appointment with the Center for Medical Genetics by calling 847.570.1029.
E-mail this page to a friend or loved one that may be at risk.