Congenital Insensitivity to Pain with Anhidrosis: Novel Mutations in the TRKA (NTRK1) Gene Encoding A High-Affinity Receptor for Nerve Growth Factor
✍ Scribed by Sek Mardy; Yuichi Miura; Fumio Endo; Ichiro Matsuda; László Sztriha; Philippe Frossard; Allie Moosa; Essam A.R. Ismail; Alfons Macaya; Generoso Andria; Ennio Toscano; William Gibson; Gail E. Graham; Yasuhiro Indo
- Book ID
- 117852858
- Publisher
- American Society of Human Genetics
- Year
- 1999
- Tongue
- English
- Weight
- 575 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302422
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📜 SIMILAR VOLUMES
Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli
Point mutations affecting the NTRK1/TRKA gene, encoding one of the receptors for the nerve growth factor (NGF), have been detected in congenital insensitivity to pain with anhidrosis (CIPA), a human hereditary sensory neuropathy characterized by absence of reaction to noxious stimuli and anhidrosis.