Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder
โ Scribed by Toscano, Ennio ;Andria, Generoso
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 33 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
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.
Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam