The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies.
The light-and electron-microscopic, single teased nerve and morphometric studies of a series of 17 sural nerve biopsies from patients with personeal muscular atrophy are presented. The cases are divided into the following groups according to the criteria of Davis, Bradley and Madrid (1977): Hypertrophic Neuropathy Group; Intermediate Group; Neuronal Sensorimotor Group; Neuronal Motor Group. The Hypertrophic Neuropathy Group had nerve hypertrophy and marked segmental demyelination and onion bulb formation. The Intermediate Group also had segmental demyelilination and onion bulb formation, but nerve hypertrophy was not seen, and axonal degeneration and regeneration were prominent. The Neuronal Sensorimotor Group cases were all sporadic, and showed some onion bulbs, paranodal demyelination and evidence of axonal degeneration and regeneration. The sensory nerve biopsy in the Neuronal Motor Group showed no major abnormality apart from some cluster formation indicating axonal regeneration. The data tend to support the classification of peroneal muscular atrophy proposed by Davis et al. (1977), though there was overlap between the groups in individual pathological parameters.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002607:Charcot-Marie-Tooth Disease / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology*; D009186:Myelin Sheath / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000648:ultrastructure; D012583:Schwann Cells / Q000648:ultrastructure; D013127:Spinal Nerves / Q000648:ultrastructure*; D013497:Sural Nerve / Q000648:ultrastructure*; D013577:Syndrome