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Brain, Vol. 110, No. 3, 563-583, 1987
© 1987 Guarantors of Brain

research-article

HEREDITARY SENSORY NEUROPATHY WITH NEUROTROPHIC KERATITIS

DESCRIPTION OF AN AUTOSOMAL RECESSIVE DISORDER WITH A SELECTIVE REDUCTION OF SMALL MYELINATED NERVE FIBRES AND A DISCUSSION OF THE CLASSIFICATION OF THE HEREDITARY SENSORY NEUROPATHIES

MICHAEL DONAGHY1, R. N. HAKIN2, J. M. BAMFORD2, A. GARNER3, G. R. KIRKBY4, B. A. NOBLE4, M. TAZIR-MELBOUCY5, R. H. M. KING5 and P. K. THOMAS1,5,

1Institute of Neurology and the National Hospital for Nervous Disease Queen Square, London 2St. Luke's Hospital Bradford, West Yorkshire 3Department of Pathology, Institute of Ophthalmology London 4Department of Ophthalmology, Leeds General Infirmary 5Department of Neurological Science, Royal Free Hospital School of Medicine London

Correspondence to: Correspondence to: Professor P. K. Thomas, Department of Neurological Science, Royal Free Hospital School of Medicine, Rowland Hill Street, London NW3 2PF, UK.

A Kashmiri family with 3 members affected by a congenital sensory and autonomic neuropathy and corneal opacification is described. The 3 affected cases were offspring of consanguinous marriages in two generations; autosomal recessive inheritance is therefore probable. Pain and temperature sensation was lost in the limbs with a resulting mutilating acropathy. Sudomotor function was also impaired. Motor function, tendon reflexes, kinaesthetic sensation and sensory nerve action potentials were normal. Sural nerve biopsy showed a selectively reduced small myelinated nerve fibre population. Corneal histology revealed neurotrophic keratitis.

The classification of the hereditary sensory and autonomic neuropathies is discussed. This family represents a previously unrecognized variant.

Received June 13, 1986. Accepted August 8, 1986.


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