Download PDF by Andrew Eisen, Charles Krieger: Amyotrophic Lateral Sclerosis: A Synthesis of Research and

By Andrew Eisen, Charles Krieger

ISBN-10: 0521034264

ISBN-13: 9780521034265

Amyotrophic Lateral Sclerosis, differently often called Lou Gehrig's sickness, is one of many degenerative illnesses of the getting older anxious approach. this article smartly synthesizes the hot explosion of analysis into this actual situation to build an in depth and entire review. Drs. Eisen and Krieger deliver their study services and wide scientific adventure to supply this functional and thought-provoking account. Chapters conceal the epidemiology, molecular biology, and pathophysiology of ALS, in addition to concerns pertinent to medical review and care.

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Additional resources for Amyotrophic Lateral Sclerosis: A Synthesis of Research and Clinical Practice

Example text

ALS, FALS is more evenly distributed amongst men and women and in some families with Cu/Zn-SOD mutations women are affected more often than men. This may reflect the bias of small numbers of patients. In 1993, Rosen et al. reported linkage between a subgroup of FALS and 11 different missense mutations in the gene encoding the Cu/Zn-SOD enzyme in 13 North American families. Since then, some 47 different missense and some deletional mutations in the Cu/Zn-SOD gene, which is linked to the long arm of chromosome 21q21, have been described in over 120 families world wide (Radunovic and Leigh, 1996; Siddique, Nijhawan The epidemiology of the Cu/Zn—SOD gene mutations and Hentati, 1996).

These findings suggest that increased deposition of iron could be pathogenic in ALS. Since the Second World War, there has been considerable change to the environment on Guam as a result of vast construction, urbanization of the villages, deep well water supplies, electrification and construction of sewage systems. This has altered the geochemical environment and the soil and drinking water sufficiently to account for the dramatic change in the incidence of ALS-PD on Guam in the last two to three decades.

Mutations have not been found in normal people but have been reported in a few cases of sporadic ALS. Some of these cases may eventually turn out be similar to the Asp90Ala mutation described in families from Finland and northern Sweden (Andersen, 1997). This particular mutation is the only homozygous mutation associated with familial ALS and has a recessive inheritance. , 1996). Cu/Zn-SOD mutations have not been found in the ALS-Parkinson-dementia complex of Guam, or familial or sporadic PD. The Ala4Val mutation has been the most commonly reported but it is restricted to North America.

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Amyotrophic Lateral Sclerosis: A Synthesis of Research and Clinical Practice by Andrew Eisen, Charles Krieger


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