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Huntington's disease

Huntington's disease or Huntington's chorea (HD) is an inherited disorder characterized by abnormal body movements called chorea, and loss of memory. It takes its name from the Ohio physician George Huntington who first described it precisely in 1872. The incidence is 5 to 8 per 100,000. more...

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There is evidence that doctors as far back as the Middle Ages knew of this devastating disease.

Symptoms

Symptoms of the disorder include loss of cognitive ability (thinking, speaking), changes in personality, jerking movements of the face and body in general and unsteady walking. These symptoms develop into dementia and cognitive decline (not mental retardation which is an older term referring to the lack of development of mental ability rather than loss of it) and an advanced form of rapid jerking called chorea, the Greek word for dance.

The symptoms of Huntington’s disease begin insidiously. One-half to three-fourths of the patients present with abnormal movement or rigidity. The remainder of the patients present with mental status changes, such as irritability, moodiness, or antisocial behavior. All of the patients eventually exhibit chorea, which is jerky, random, uncontrollable, rapid movements. Typically, the abnormal movements begin at the extremities and then later progress.

Huntington's disease contributes to a chemical imbalance that leads many victims to commit suicide. This is also believed in part to be a result of the position in which sufferers find themselves.

Genetics

Huntington's disease is inherited in autosomal dominant fashion, meaning that it is a dominant allele. People with Huntington's disease have a 50% chance of passing the disease to each of their children.

The causative gene HD (one of the first identified to cause an inherited disease) is located on chromosome 4. Huntington's disease is inherited in an autosomal dominant fashion. The autosomal dominant fashion means that a recipient of the gene only needs one allele to inherit the disease. Most genetic diseases are autosomal recessive meaning that they need two alleles to inherit the disease. The dominant nature of Huntington's disease increases the chance of the disease occurring in offspring. A parent who has the disorder has a 50% chance of passing on the gene with each child.

The product of this gene is a 350 kDa cytoplasmic protein called huntingtin. The continuous aggregation of huntingtin molecules in neuronal cells gives rise to cell death, especially in the frontal lobes and the basal ganglia (mainly in the caudate nucleus) by some unknown mechanism. Huntingtin has a characteristic sequence of fewer than 40 glutamine amino acid residues (encoded by CAG trinucleotide repeats) in the normal form; the mutated huntingtin causing the disease has more than 40 residues. The severity of the disease is proportional to the number of extra residues.

While theories as to how the mutation brings about disease remain diverse and speculative, researchers have identified many specific subcellular abnormalities associated with the mutant protein, as well as unusual properties of the protein in vitro. Just as one example, in 2001, Max Perutz discovered that the glutamine residues form a nanotube1 in vitro, and the mutated forms are long enough in principle to pierce cell membranes.

Read more at Wikipedia.org


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Unsaturated fatty acids for Huntington's disease - Literature Review & Commentary - Brief Article
From Townsend Letter for Doctors and Patients, 4/1/03 by Alan R. Gaby

Seventeen patients with Huntington's disease were randomly assigned to receive, in double-blind fashion, a supplement containing unsaturated fatty acids or a placebo. The dosage of unsaturated fatty acids was eight 1-g capsules per day; each capsule contained 70 mg of gamma-linolenic acid (GLA), 35 mg of eicosapentaenoic acid (EPA), 20 mg of docosahexaenoic acid (DHA), 50 mg of alpha-lipoic acid, and 30mg of vitamin E, with linoleic acid as a carrier. The placebo contained hydrogenated coconut oil, alpha-lipoic acid, and vitamin E. The mean duration of treatment was 19 months for active treatment and 20 months for placebo. On the Rockland-Simpson Dyskinesia Rating Scale, 7 patients receiving active treatment improved and 2 became worse, whereas 1 patient receiving placebo improved, 1 was unchanged, and 6 became worse (p = 0.01 for the difference in the response between groups). A similar trend (p = 0.08) was seen using the Unified Huntington's Disease Rating Scale. No significant side effects were seen.

Comment: Huntington's disease is a hereditary, progressive degenerative brain disorder that eventually results in death. Because no effective conventional treatment is available, the results of this new study are encouraging. In another recent double-blind study (Neuroreport 2002;13:123-6), supplementation with the ethyl-ester of EPA (1 g twice a day for 6 months) resulted in significant improvement in motor function in patients with Huntington's disease. In addition, each of two patients in the active-treatment group who underwent MRI brain scans before and after treatment showed a reversal of cerebral atrophy. These two studies of unsaturated fatty acids offer new hope in the treatment of this devastating disease.

Vaddadi KS, et al. A randomised, placebo-controlled, double blind study of treatment of Huntington's disease with unsaturated fatty acids. Clin Neurosci Neuropathol 2002;13:29-33.

COPYRIGHT 2003 The Townsend Letter Group
COPYRIGHT 2003 Gale Group

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