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A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V

Houlden, H; King, RHM; Hashemi-Nejad, A; Wood, NW; Mathias, CJ; Reilly, M; Thomas, PK; (2001) A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. ANN NEUROL , 49 (4) 521 - 525.

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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.

Type: Article
Title: A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V
Keywords: CONGENITAL INSENSITIVITY, GROWTH-FACTOR, PAIN, ANHIDROSIS, NERVE, GENE, RECEPTOR, DISORDER, FIBERS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/156814
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