Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient

Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to scre...

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Detalles Bibliográficos
Autores principales: Saleh-gohari, Nasrollah, Mohammadi-Anaie, Marzye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Neuroscience Society 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202553/
https://www.ncbi.nlm.nih.gov/pubmed/25337332
Descripción
Sumario:Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that may cause the disease.

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