Amyotrophic lateral sclerosis hereditary

The lack of zinc can also be a problem in biological systems and is responsible for disease states. For example, nitric oxide-dependent apoptosis can be induced in motor neurons by zinc-deficient SOD, and in some cases of amyotrophic lateral sclerosis, zinc-deficient SOD may participate in this type of oxidative mechanism involving nitric oxide.969 One form of hereditary human hair loss or alopecia was mapped to a specific gene and a mutation found in affected individuals. The gene encodes a single zinc finger transcription factor protein with restricted expression in the brain and skin.970 Zinc has been implicated in Alzheimer s via beta amyloid formation, and a role has been attributed for the cerebral zinc metabolism in the neuropathogenesis of Alzheimer s disease.971... 

Cork, L. C., Griffin, I. W., Adams, R. J. and Price, D. L. Motor neuron disease spinal muscular atrophy and amyotrophic lateral sclerosis. Animal model hereditary canine spinal muscular atrophy. Am. J. Pathol. 100 599-602,1980. 

There are many other neurodegenerative diseases, some with a high incidence, and others rare. They include Parkinson disease (p. 1790), Huntington disease (Table 26-4), spinal muscular atrophy (SMA a leading hereditary cause of infant mortality),1162a b amyotrophic lateral sclerosis (ALS), prion diseases (Box 29-E), ataxias, and other diseases caused by triple-repeat DNA sequences (Table 26-4) and X-linked adrenoleukodystrophy (ALD p. 945).1163 In the last, membrane function is disrupted. Although these diseases arise from a variety of causes many of them have in common amyloidosis, the deposition of insoluble proteins in or around neurons.11633... 

Key words Motor neuron diseases, amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), peripheral neuropathies, Charcot-Marie-Tooth diseases, hereditary motor and/or sensory neuropathies (HSMNs), congenital myasthenic syndromes, neuromuscular junction, muscular dystrophies, Duchenne s disease. 

Antioxidant enzymes do not always protect us. There was great excitement when it was found that victims of a hereditary form of the terrible neurological disease amyotrophic lateral sclerosis (ALS see also Chapter 30) carry a defective gene for Cu / Zn-superoxide dismutase (SOD Eq. 16-27). This discovery seemed to support the idea that superoxide anions in the brain were killing neurons. However, it now appears that in some cases of ALS the defective SOD is too active, producing an excess of H2O2, which damages neurons. 

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