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NEUROLOGY 1985;35:1226
© 1985 American Academy of Neurology

Hereditary sensory neuropathy

Biopsy study of an autosomal dominant variety

Moris J. Danon, MD and Stirling Carpenter, MD

Departments of Neurology and Pathology (Dr. Danon), University of Illinois College of Medicine, Chicago, IL, and the Department of Neurology and Neurosurgery (Dr. Carpenter), McGill University, Montreal Neurological Institute, Montreal, Quebec, Canada.

We studied sural nerve biopsies from a family m which three members in two generations (father, son, and daughter) had a dominantly inherited neuropathy (HSAN-I). There was marked loss of myelinated fibers, especially those of large diameter, and there was comparable loss of unmyelinated fibers. These quantitative findings differed from another reported case that provided basis for the classification of dominant and recessively inherited sensory neuropathies. Few patients have been studied, so ultrastructural and morphometric data have limited value in classification of these disorders, for which there is still no known biochemical marker.

Address correspondence and reprint requests to Dr. Danon, Department of Neurology, University of Illinois, College of Medicine, 912 South Wood Street, Chicago, IL 60612.

This work was partially supported by the Medical Research Council of Canada and Muscular Dystrophy Association of Canada.

Presented in part at the thirty-sixth annual meeting of the American Academy of Neurology, Boston, MA, April 1984.

Accepted for publication November 30, 1984.






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