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Brain, Vol. 117, No. 4, 651-659, 1994
© 1994 Guarantors of Brain

research-article

Autosomal recessive hereditary sensory neuropathy with spastic paraplegia

P. K. Thomas1,2,0, V. P. Misra1, R. H. M. King1, J. R. Muddle1, S. Wroe2, K. P. Bhatia2,4, Milne Anderson3, A. Cabello5, J. Vilchez6 and N. H. Wadia4

1Royal Free Hospital School of Medicine London 2The Institute of Neurology London 3The Midland Centre for Neurosurgery and Neurology Smethwick, UK 4The Jaslok Hospital Bombay, India 5The I2 de Octubre University Hospital Madrid 6The Hospital Universitaria La Fé Valencia, Spain

Correspondence to: 0Correspondence to: Professor P. K. Thomas, Department of Neurosciences, Royal Free Hospital School of Medicine, Rowland Hill Street, London NW3 2PF, UK

Five patients are described with a progressive sensory neuropathy in association with a spastic paraplegia and a mutilating lower limb acropathy. Disease onset was in childhood. Two pairs of siblings were both the offspring of normal consanguinous parents, suggesting autosomal recessive inheritance. The fifth case was sporadic; her parents were normal and non-consanguinous. Nerve biopsy in three patients showed an axonopathy with a loss of myelinated nerve fibres of all diameters and also of unmyelinated axons. In combination with the previous report by Cavanagh et al. (Brain 1979; 102: 79–94), the present patients establish the existence of an autosomal recessive form of hereditary sensory neuropathy with spastic paraplegia. There have been previous descriptions of a dominantly inherited form.

hereditary sensory neuropathy; spastic paraplegia

Received February 1, 1994. Revised March 31, 1994. Accepted April 8, 1994.


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