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In a three-dimensional study of the distribution of anterior horn cells in the C8 segment of the human spinal cord we have recognized lateral and medial zones of motor neuron groupings, but have not been able to recognize subgroups of neurons within these groupings resembling the anatomical columns described by earlier investigators. This observation does not invalidate the concept of functional groupings within these anterior horn cell pools. In studies of the same segment in cords obtained at autopsy from patients with motor neuron disease, zones of focal loss of motor neurons were identified, without consistent severity or distribution at different sectional levels. These findings imply varying resistance to the disease in different pools of motor neurons.

Abnormalities in type I collagen have been recognized in a number of connective tissue disorders. In the Marfan syndrome, an autosomal dominant condition producing a generalized abnormality in connective tissue, no consistent abnormality has been identified, although one individual has been found to have an elongated pro alpha 2(I) collagen chain [Byers et al, Proc Natl Acad Sci USA 78:7745, 1981]. To determine the nature of the alteration in the gene that produced this abnormality, we studied the pro alpha 2(I) gene from this individual by genomic blotting and gene cloning. Genomic mapping studies detected no abnormalities. However, analysis of the cloned segment of the pro alpha 2(I) collagen gene from the Marfan individual indicates that the gene contains a 38 base pair insertion in an intron near the collagenase cleavage site. Although the relationship of this insertion to the protein abnormality is unclear, it may be a useful marker for the diagnosis of the Marfan syndrome.