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Mutations of the Superoxide Dismutase Gene are Associated with Amyotrophic Lateral Sclerosis

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Recent studies have provided some insight for the possible causes of the familial type of amyotrophic lateral sclerosis (FALS). This disease occurs only in 10% of the known cases of ALS with the sporadic, non-hereditary form being predominant [7, 9]. ALS in general has an occurrence of 0.4 to 1.8 per 100,000 live births [1]. ALS has been called Lou Gehrig’s disease, Charcot’s disease and motor neuron disease in other literature [4]. ALS is a neurodegenerative disease of upper 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 certain area of the body. FALS is inherited autosomally as a dominant trait [9,12,13,17]. It exhibits heterogeneity and may not be present in a consecutive generation [1]. It is diagnosed usually near the age of fifty and ranges from 20-72 years [9,17]. Most patients are given a prognosis of 5 years of life 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 bulk 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 receptor are other proposed causes.

Autoimmune disease has been studied as a possible agent for the cause of FALS [6]. Supportive evidence includes the deficiency of IgG1 or IgG3 or both in 16/25 observed patients; subclass deficiency could...

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13. Mulder, D. W., Kurland, L. T. Familial adult motor neuron disease: Amyotrophic lateral sclerosis. Neurology, Apr 1986, 36:511-517.

14. Norris, F. H.., Burns, W. Spinal fluid cells and protein in Amyotrophic lateral sclerosis. Arch. Neurol., May 1993, 50:489-491.

15. Ostermeyer-Shoaib, B. IgG subclass deficiency in amyotrophic lateral sclerosis. Acta Neurol. Scand., 1993, 87:192-194.

16. Rosen, O. R,, Siddiquem T. Mutations in Cu/Zn superoxide dismutase gene are associated with amyotrophic lateral sclerosis. Nature, 4Mar 1993, 362:59-62.

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.
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