This report describes a family with 8 members in 3 generations affected by a chronic progressive distal sensorimotor polyneuropathy. One member had thickened nerves. Six were studied electrophysiologically and found to have marked slowing of maximum motor nerve conduction and a loss of sensory nerve action potentials. Two other members were normal clinically and electrophysiologically. Sural nerve biopsies were obtained from 3 affected members and studied by quantitative histology and electron microscopy. Onion bulb formation was rare on light microscopy but there were changes of segmental demyelination and remyelination affecting mainly the larger myelinated nerve fibres, imbricate Schwann cell systems and an increase in the amount of collagen on electron microscopy. The relationship between this condition, peroneal muscular atrophy and the hereditary ataxias is discussed. Current studies have not yet offered a clue to the aetiology of this group of diseases.
ASJC Scopus subject areas
- Clinical Neurology