X-linked spinal muscular atrophy (Kennedy's syndrome). A kindred with hypobetalipoproteinemia

C. L. Warner, S. Servidei, D. J. Lange, E. Miller, R. E. Lovelace and L. P. Rowland
Department of Neurology, State University of New York, Buffalo.

Kennedy's syndrome, X-linked adult-onset bulbospinal muscular atrophy, has been described in over 30 families. The characteristic distribution of weakness creates a recognizable syndrome, augmented by frequent findings of testicular atrophy and gynecomastia. Type IV or type II hyperlipoproteinemia has been found in some families. We have studied another family with Kennedy's syndrome, this one with hypobetalipoproteinemia. The diversity of serum patterns suggests that lipoprotein abnormalities are not causally related to either the endocrinopathy or the spinal muscular atrophy. However, gene linkage studies indicate proximity of the gene for Kennedy's syndrome and the gene encoding the androgen receptor, which could explain the combination of a motor neuron disorder and the endocrine abnormalities.