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Publication Detail
A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Houlden H, King RHM, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK
  • Publication date:
    04/2001
  • Pagination:
    521, 525
  • Journal:
    Annals of Neurology
  • Volume:
    49
  • Issue:
    4
  • Print ISSN:
    0364-5134
  • Keywords:
    analysis, ANHIDROSIS, autonomic, AUTONOMIC NEUROPATHY, axon, Axons, Biopsy, Calcaneus, congenital, CONGENITAL INSENSITIVITY, DEGENERATION, DENSITIES, DENSITY, DISORDER, Disorders, DNA, DNA analysis, English, EPISODE, EPISODES, FIBERS, fracture, GENE, growth, GROWTH FACTOR, GROWTH-FACTOR, hereditary, homozygous, injuries, injury, IV, JOINT, LIFE, loss, Mutation, MUTATIONS, nerve, Nerve Growth Factor, neuropathic, neuropathy, NEW-YORK, novel, pain, parent, Parents, Pattern, Receptor, RECURRENT, REDUCTION, sensation, sensory, Sural Nerve, Temperature, TRKA, USA
Abstract
A boy with recurrent pyrexial episodes from early life sustained a painless ankle injury and was found to have a calcaneus fracture and, later, neuropathic joint degeneration of the tarsus. Examination revealed distal loss of pain and temperature sensation and widespread anhidrosis. Sural nerve biopsy demonstrated severe reduction in small-caliber myelinated fiber density but only modest reduction in unmyelinated axons, the pattern of type V hereditary sensory and autonomic neuropathy (HSAN V). DNA analysis showed that he was homozygous for a mutation in the NTRK1/high-affinity nerve growth factor (TrkA) gene, his parents being heterozygous. Mutations in this gene are known to be responsible for HSAN IV (congenital insensitivity to pain with anhidrosis). The two disorders are therefore likely to be allelic
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Author
Department of Neuromuscular Diseases
Author
Department of Neuromuscular Diseases
Author
Clinical and Movement Neurosciences
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