Autosomal recessive hereditary sensory neuropathy with spastic paraplegia

• Published in: Brain (London, England : 1878) England : 1878), 1994-08, Vol.117 (4), p.651-659
• Main Authors: Thomas, P. K., Misra, V. P., King, R. H. M., Muddle, J. R., Wroe, S., Bhatia, K. P., Anderson, Milne, Cabello, A., Vilchez, J., Wadia, N. H.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Biological and medical sciences; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Hereditary Sensory and Motor Neuropathy - complications; Hereditary Sensory and Motor Neuropathy - genetics; Hereditary Sensory and Motor Neuropathy - pathology; Hereditary Sensory and Motor Neuropathy - physiopathology; hereditary sensory neuropathy; Humans; Male; Medical sciences; Neural Conduction; Neurology; Paraplegia - complications; Paraplegia - genetics; Paraplegia - pathology; Paraplegia - physiopathology; Peripheral Nerves - pathology; Peripheral Nerves - physiopathology; spastic paraplegia
• ISSN: 0006-8950; 1460-2156
• DOI: 10.1093/brain/117.4.651

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.