A Sex-linked Heredo-degenerative Neurological Disorder Associated with Leber’s Optic Atrophy Genetical Aspects

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Abstract
In a large family covering 7 generations with hereditary optic atrophy a severe neurological disturbance was also found, falling into the group of spinocerebellar degenerations. Strong reasons are presented for the belief that the optic atrophy is truly Leber''s optic atrophy. On the basis of the distribution of these 2 conditions in the family it is concluded that 1 gene is responsible for both abnormalities. It is argued that the presence of neurological disturbances is probably quite common in Leber''s optic atrophy. It appears likely that the abnormal gene is situated on the X-chromosome. An effort to find linkage with colorblindness or the Xg bloodgroup remained unsuccessful.