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Neurology, Vol 45, Issue 7 1405-1408, Copyright © 1995 by American Academy of Neurology

ARTICLES

Hereditary sensory and autonomic neuropathy with cataracts, mental retardation, and skin lesions: five cases

JM Heckmann, JA Carr and N Bell
Neurology Unit, Groote Schuur Hospital, South Africa.

We report the clinical and electrophysiologic data on five subjects from two families with severe sensory and autonomic neuropathy who also exhibited peroneal muscular atrophy with the electrophysiologic features of an axonopathy, congenital cataracts, mental retardation, and skin lesions. One patient had hearing loss. Autosomal recessive inheritance was probable in both families.


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P. J. Spring, C. Kok, G. A. Nicholson, A. J. Ing, J. M. Spies, M. L. Bassett, J. Cameron, P. Kerlin, S. Bowler, R. Tuck, et al.
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24
Brain, December 1, 2005; 128(12): 2797 - 2810.
[Abstract] [Full Text] [PDF]


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