A first step toward a molecular analysis of amyotrophic lateral sclerosis

Article Abstract:

Amyotrophic lateral sclerosis (ALS; also known as Lou Gehrig's disease) is more common than multiple sclerosis, affecting about five to six people out of every 100,000. The disease is usually deadly within five years, and most sufferers live no longer than three years after the onset of symptoms. Despite much research, the cause for ALS is not known, and no effective treatment has yet been devised. The majority of cases of ALS are sporadic, but a few cases seem to be inherited as a dominant trait within families. Curiously, while male ALS patients outnumber female patients by two to one for the sporadic variety of ALS, men and women seem to be equally affected by the inherited variety. From 10 to 15 percent of all cases of ALS are familial; in the May 16, 1991 issue of The New England Journal of Medicine, researchers have reported the results of a major study to identify the location of the gene for the familial form of ALS. In a study involving 23 families with ALS, the investigators sought out a handful of DNA markers which were usually inherited along with the disease gene as the trait is passed from generation to generation. Their data showed that in many families, the disease gene seems to be located on the long arm of chromosome 21. Unfortunately, some doubt remains, and the interpretation must remain open to question. One of the greatest problems facing this sort of research is that while families might be difficult to seek out, it is even harder to find one with more than a single affected member. In a disease that usually kills within five years, finding affected members in two generations is unlikely indeed. As a result, it is difficult to achieve the kind of reliability which genetic researchers would like. Another finding to arise from this work is that the familial form of ALS may not arise from mutations in only one gene. There is evidence that the disease in some families may result from a mutation in a gene in a totally different location. The researchers could not find any differences in the disease symptoms between the patients that appeared to have their mutation of chromosome 21 and those who had some other mutation. The existence of clinically indistinguishable diseases resulting from the mutation of different genes is not unprecedented, and has been noted in diseases such as familial Alzheimer's disease and polycystic kidney disease. (Consumer Summary produced by Reliance Medical Information, Inc.)

Usage, Chromosome mapping, editorial

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Amyotrophic lateral sclerosis-Are microglia killing motor neurons?

Article Abstract:

A study was conducted to examine the role of individual types of cells in superoxide (SOD1)-mediated Amyotrophic Lateral Sclerosis (ALS) by manipulating the expression of mutant SOD1 in motor neurons or microglia. Although the study suggests a role of microglia in the modification of disease progression, it is not certain that amount mutant SOD1 in microglia is critical to disease pathogenesis.

Analysis, Superoxide dismutase, Disease/Disorder overview

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Whole-genome analysis of sporadic amyotrophic lateral sclerosis

Article Abstract:

A genomewide case control association study is carried out to identify the specific genetic variants associated with sporadic amyotrophic lateral sclerosis (ALS). Results concluded that variants of the uncharacterized gene, FLJ10986 may confer susceptibility to sporadic ALS.

Science & research, Research, Genetic susceptibility, Clinical report

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