FAMILIAL DYSAUTONOMIA (A BRIEF REVIEW)

Familial dysautonomia presents fascinating challenges to neuroscientists. Many of the clinical and biochemical features are now explicable in terms of pathologic deficits in peripheral autonomic and sensory neurons but much remains to be learned regarding central nervous system function in this disease. No firmly established data are available regarding the etiology of the developmental and degenerative changes in neurons in FD. Modern medical care permits survival of increasing numbers of patients into adulthood. Greater knowledge of the biochemistry and pharmacology of FD is required so that supportive therapy can be designed to increase the quality of life for patients and diminish the degenerative changes which inexorably lead to their deaths. © 1979.