No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.

Abstract

Hereditary sensory and autonomic neuropathy type IV (HSAN-IV) and type V (HSAN-V) are autosomal recessive genetic disorders, both characterized by a lack of pain sensation. We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN-V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN-IV, but we could not detect any mutation. These data indicate that a gene (or genes) other than TRKA is probably responsible for HSAN-V in some patients.

• Authors: Ennio Toscano, Alessandro Simonati, Yasuhiro Indo, Generoso Andria
• Journal: Annals of neurology (Ann Neurol) Vol. 52 Issue 2 Pg. 224-7 (Aug 2002) ISSN: 0364-5134 [Print] United States
• PMID: 12210794 (Publication Type: Case Reports, Journal Article)

Chemical References

• Receptor, trkA

Topics

• Biopsy
• Child
• Female
• Hereditary Sensory and Autonomic Neuropathies (genetics, pathology)
• Heterozygote
• Humans
• Mutation
• Nerve Fibers, Myelinated (pathology)
• Polymorphism, Genetic
• Receptor, trkA (genetics)
• Sural Nerve (pathology)