Hereditary sensory neuropathy with spastic paraplegia.
Five cases of spastic paraplegia with a progressive symmetrical sensory neuropathy producing ulceration and osteomyelitis of the hands and feet are reported. The pathology in one patient, who died of secondary amyloidosis, was similar to that found by Denny-Brown in hereditary sensory radicular neuropathy with severe loss of posterior root ganglion cells and loss of myelinated fibres in both peripheral nerves and posterior columns of the spinal cord. A sural nerve biopsy in another case showed a striking loss of both myelinated and unmyelinated fibres, with some evidence of degeneration and regeneration. The inheritance is probably by an autosomal recessive gene. The prognosis in the more severe form of the disorder is poor.
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003711:Demyelinating Diseases / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D006987:Hypesthesia / Q000235:genetics* / Q000473:pathology; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics / Q000473:pathology; D010264:Paraplegia / Q000235:genetics* / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D012883:Skin Ulcer / Q000235:genetics / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology