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.
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.
Toscano
Ennio
E
Department of Pediatrics, Federico II University, Naples, Italy.
Simonati
Alessandro
A
Indo
Yasuhiro
Y
Andria
Generoso
G
D001706:Biopsy; D002648:Child; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D011110:Polymorphism, Genetic; D020917:Receptor, trkA / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology
D020917:Receptor, trkA