Mutations of the Superoxide Dismutase Gene are Associated with Amyotrop

Recent studies bring forth provided slightly insight for the possible causes of the familial type of amyotrophic by and byal sclerosis (FALS). This indisposition occurs only in 10% of the known cases of ALS with the sporadic, non-hereditary piss being predominant 7, 9. ALS in general has an occurrence of 0.4 to 1.8 per 100,000 alive(p) births 1. ALS has been called Lou Gehrigs disease, Charcots disease and motor neuron disease in other literature 4. ALS is a neurodegenerative disease of swiftness and lower motor neurons that can manifest in such a way that it can be misdiagnosed. Such areas include respiratory muscles with initial diagnosis of asthma, or even psychological problems that appear as a dementia 7. The primary manifestations are not restricted to any legitimate area of the body. FALS is inherited autosomally as a dominant trait 9,12,13,17. It exhibits heterogeneousness and may not be present in a sequential generation 1. It is diagnosed usually near the age of f ifty and ranges from 20-72 years 9,17. approximately patients are given a prognosis of 5 years of conduct after diagnosis 5. It has also been proposed that the juvenile form may be recessive. There is a predominance of maternal transmission in later onset and paternal transmission in early onset 9. The mess of this paper will deal with the SOD1 gene mutations as the proposed cause for some types of FALS. Many other hypothesis have been developed and will be briefly addressed at this point. Autoimmune disease and mutations in the glutamate sense organ are other proposed causes. Autoimmune disease has been studied as a possible agent for the cause of FALS 6. Supportive evidence includes the privation of IgG1 or IgG3 or both in 16/25 observed patients subclass lack could... .... 12. Maurelli, M., Marchioni, E. familial adult amyotrophic lateral sclerosis report of cases. Ital. J. Neurol. Sci., 1992, 1375-79. 13. Mulder, D. W., Kurland, L. T. Familial adult motor neuron disease Am yotrophic lateral sclerosis. Neurology, Apr 1986, 36511-517. 14. Norris, F. H.., Burns, W. spinal anesthesia fluid cells and protein in Amyotrophic lateral sclerosis. Arch. Neurol., May 1993, 50489-491. 15. Ostermeyer-Shoaib, B. IgG subclass deficiency in amyotrophic lateral sclerosis. Acta Neurol. Scand., 1993, 87192-194. 16. Rosen, O. R,, Siddiquem T. Mutations in Cu/Zn superoxide anion dismutase gene are associated with amyotrophic lateral sclerosis. Nature, 4Mar 1993, 36259-62. 17. Strong, M. J., Hudson, A. J. Familial amyotrophic lateral sclerosis, 1850-1989 A statistical analysis of the world literature. Can. J. Neural. Sci., 1991, 18 45-58.