title: Expanded HSAN4 phenotype associated with two novel mutations in NTRK1.
abstract: Hereditary sensory and autonomic neuropathy type IV (HSAN4) is a severe autosomal recessive disorder characterized by childhood onset of sensory and autonomic dysfunction leading to hyperthermia, recurrent infections and physical impairment due to complications of osteoarthritis. Cognitive impairment and aggressive behaviour is common. HSAN4 is caused by mutations in the NTRK1 gene coding for the tyrosine kinase receptor A. We present detailed description of a rare, mild HSAN4 phenotype associated with two novel NTRK1 mutations. This Swedish patient presents with an adult onset of painful Charcot arthropathy, prolonged wound healing, discrete polyneuropathy, hypohidrosis without further autonomic dysfunction and no cognitive affection.
authors.affiliation: Ruhr-University, Human Genetics, 44780 Bochum, Germany. stefan.wieczorek@rub.de
authors.forename: Stefan
authors.initials: S
authors.lastname: Wieczorek
authors.forename: Jonas
authors.initials: J
authors.lastname: Bergström
authors.forename: Maria
authors.initials: M
authors.lastname: Sääf
authors.forename: Judith
authors.initials: J
authors.lastname: Kötting
authors.forename: Erik
authors.initials: E
authors.lastname: Iwarsson
mesh_terms: D000328:Adult; D000842:Ankle / Q000000981:diagnostic imaging; D001177:Arthropathy, Neurogenic / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology; D004576:Electromyography; D004594:Electrophysiology; D005091:Exons / Q000235:genetics; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006801:Humans; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D010641:Phenotype; D011859:Radiography; D020917:Receptor, trkA / Q000235:genetics*; D012035:Refsum Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D020917:Receptor, trkA