Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. Issue 10 (October 1987)

• Record Type: Journal Article
• Authors: MacDermot, K D; Walker, R W
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 50:Issue 10(1987)
• Page Start: 1342
• Page End: 1347
• Publication Date: 1987-10
• Subjects: Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.50.10.1342
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : A syndrome is described, consisting of severe neurogenic distal wasting, generalised muscle weakness, absent ankle reflexes, pyramidal signs, mental retardation, optic atrophy and retinal colloid bodies. A sural nerve biopsy from one case showed loss of nerve fibres suggesting the diagnosis of hereditary motor and sensory neuropathy. Progression of the disorder was very slow, all patients still being able to walk more than 20 years after the onset. The persons affected with this syndrome were two brothers and their female cousin from a large Gujerati pedigree where consanguinity was high. Autosomal recessive inheritance is therefore suggested.