In order to conduct HD research, investigators require samples of tissue or blood from families with HD. Access to individuals with HD and their families may be difficult however, because families with HD are often scattered across the country or around the world. A research project may need individuals of a particular age or gender or from a certain geographic area. Some scientists need only statistical data while others may require a sample of blood, urine, or skin from family members. All of these factors complicate the task of finding volunteers. The following NINDS-supported efforts bring together families with HD, voluntary health agencies, and scientists in an effort to advance science and speed a cure.
The NINDS-sponsored HD Research Roster at the Indiana University Medical Center in Indianapolis, which was discussed earlier, makes research possible by matching scientists with patient and family volunteers. The first DNA bank was established through the roster. Although the gene has already been located, DNA from individuals who have HD is still of great interest to investigators. Of continuing interest are twins, unaffected individuals who have affected offspring, and individuals with two defective HD genes, one from each parent-a very rare occurrence. Participation in the roster and in specific research projects is voluntary and confidential. For more information about the roster and DNA bank, contact:
Indiana University Medical Center Department of Medical and Molecular Genetics
Medical Research and Library Building
975 W. Walnut Street
Indianapolis, IN 46202-5251
(317) 274-5744 (call collect)
The NINDS supports two national brain specimen banks. These banks supply research scientists around the world with nervous system tissue from patients with neurological and psychiatric disorders. They need tissue from patients with
Huntington's disease so that scientists can study and understand the disorder. Those who may be interested in donating should write to:
Human Brain and Spinal Fluid Resource Center Neurology Research (127A)
W. Los Angeles Healthcare Center
11301 Wilshire Blvd. Bldg. 212
Los Angeles, CA 90073
310-268-3536
24-hour pager: 310-636-5199
Email: RMNbbank@ucla.edu
http://www.loni.ucla.edu/~nnrsb/NNRSB
Francine M. Benes, M.D., Ph.D., Director Harvard Brain Tissue Resource Center McLean Hospital
115 Mill Street
Belmont, Massachusetts 02478
800-BRAIN-BANK (800-272-4622)
(617) 855-2400
www.brainbank.mclean.org
Constipation is defined medically as fewer than three stools per week and severe constipation as less than one stool per week. Constipation usually is caused by the slow movement of stool through the colon. There are many causes of constipation including medications, poor bowel habits, low fiber diets, abuse of laxatives, hormonal disorders, and diseases primarily of other parts of the body that also affect the colon.
Dehydration is the excessive loss of body water. There are a number of causes of dehydration including heat exposure, prolonged vigorous exercise, and some diseases of the gastrointestinal tract. The best way to treat dehydration is to prevent it from occurring.
Dementia is a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are different criteria classification schemes for dementias such as cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
Depression is an illness that involves the body, mood, and thoughts and affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. The principal types of depression are major depression, dysthymia, and bipolar disease (also called manic-depressive disease).
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Tremor is the involuntary movements of one or more parts of the body. Causes of tremor include neurological disorders, neurodegenerative diseases, drugs, mercury poisoning, overactive thyroid and liver failure. There are several types of tremor. Treatment depends upon the type of tremor and availability of medications for the condition.
Dysphagia or difficulty in swallowing, swallowing problems. Dysphagia is due to problems in nerve or muscle control. It is common, for example, after a stroke. Dysphagia compromises nutrition and hydration and may lead to aspiration pneumonia and dehydration.
Obsessive compulsive disorder (OCD) is an anxiety disorder that causes a person to suffer repeated obsessions and compulsions. Symptoms include irresistible impulses despite a person's realization that the thoughts are irrational, excessive hand washing, skin picking, lock checking, or repeatedly rearranging items. People with OCD are more likely to develop trichotillomania, muscle or vocal tics, or an eating disorder. Treatment for OCD includes psychotherapy, behavioral therapy, and medication.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
There are many types of urinary incontinence (UI), which is the accidental leakage of urine. These types include stress incontinence, urge incontinence, and overflow incontinence. Urinary incontinence in men may be caused by prostate or nerve problems. Treatment depends upon the type and severity of the UI and the patient's lifestyle.
Dystonia disorders cause involuntary movements and prolonged muscle contraction, resulting in twisting body motions, tremor, and abnormal posture. There are many forms of dystonia. Some types of dystonia respond to dopamine, or can be controlled with dedative-type medications, or surgery.
Seizures are divided into two categories: generalized and partial. Generalized seizures are produced by electrical impulses from throughout the brain, while partial seizures are produced by electrical impulses in a small part of the brain. Seizure symptoms include unconsciousness, convulsions, and muscle rigidity.
Millions of women suffer from urinary incontinence (UI). UI occurs twice as often in women as in men. There are many types of urinary incontinence: stress incontinence, urge incontinence, overactive bladder, functional incontinence, overflow incontinence, transient incontinence, and mixed incontinence.
Urinary incontinence in children (enuresis) is twice as common in boys as in girls and may occur during the daytime or nighttime. Nighttime urinary incontinence is also called bedwetting and sleepwetting. The cause of nighttime incontinence in children is unknown. Daytime incontinence in children may be caused by an overactive bladder. Though many children overcome urinary incontinence naturally, it may be necessary to treat incontinence with medications, bladder training and moisture alarms, which wake the child when he or she begins to urinate.
Most often, caregivers take care of other adults who are ill or disabled. Less often, caregivers are grandparents raising their grandchildren. The majority of caregivers are middle-aged women. Caregiving can be very stressful, so it's important to recognize when it's putting to much strain on you and to take steps to prevent/relieve stress.
Depression in the elderly is very common. That doesn't mean, though, it's normal. Treatment may involve antidepressants, psychotherapy, or electroconvulsive therapy.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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