Motor neuron diseases familial causes

Wong, P. C., Pardo, C. A., Borchelt, D. R. et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14 1105-1116,1995. 

Wong PC, Pardo CA, Borchelt DR, Lee MK, Copeland NG, Jenkins NA, Sisodia SS, Cleveland DW, Price DL (1995) An Adverse property of a familial ALS-linked SODl mutation causes motor neuron disease characterized by vacuolar degeneradon of mitochondria. Neurorr Jurruary 14(6) 1105—1116. 

Diseases selectively targeting spinal cord and brainstem motor neurons (e.g. amyotrophic lateral sclerosis and the familial spinal muscular atrophies) or the presynaptic component of neuromuscular junctions (e.g. Lambert-Eaton syndrome, botulism and Ixodes tick paralysis) cause weakness without sensory impairment. Disorders involving the enteric nervous system (e.g. Chagas disease and Hirschsprung s disease) impair bowel motility. 

Williamson, T. L., Bruijn, L. I., Zhu, Q. et al. Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant. Proc. Natl Acad. Sci. U.S.A. 95 9631-9636,1998. 

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