title: A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.
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.
authors: University Department of Clinical Neurology, Institute of Neurology, London, United Kingdom.
authors: H
authors: H
authors: Houlden
authors: R H
authors: RH
authors: King
authors: A
authors: A
authors: Hashemi-Nejad
authors: N W
authors: NW
authors: Wood
authors: C J
authors: CJ
authors: Mathias
authors: M
authors: M
authors: Reilly
authors: P K
authors: PK
authors: Thomas
mesh_terms: D001706:Biopsy; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D020917:Receptor, trkA; D013497:Sural Nerve / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D008565:Membrane Proteins; D020917:Receptor, trkA