Paroxysmal extreme pain disorder: A molecular lesion of peripheral neurons

Nature Reviews Neurology

Volumn 7, Issue 1, 2011, Pages 51-55

  Choi, Jin Sung ^a   Boralevi, Franck ^b   Brissaud, Olivier ^b   Sánchez Martín, Jesús ^c   Te Morsche, René H M ^d   Dib Hajj, Sulayman D ^a   Drenth, Joost P H ^d   Waxman, Stephen G ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HÔPITAL PELLEGRIN   (France)

^c Central University Hospital of Asturias   (Spain)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; SODIUM CHANNEL NAV1.7;

ARTICLE; CASE REPORT; DEFECATION; DISEASE SEVERITY; DRUG WITHDRAWAL; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; ERYTHEMA; FLUSHING; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPOCALCEMIA; INFANT; JAUNDICE; MALE; MOLECULAR GENETICS; PAIN; PAROXYSMAL EXTREME PAIN DISORDER; PATCH CLAMP; PRIORITY JOURNAL;

CHROMOSOME DISORDERS; HUMANS; INFANT; MALE; MUTATION; NEURALGIA; SODIUM CHANNELS;

EID: 78651362631     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2010.162     Document Type: Article

References (18)

1. Dib-Hajj, S. D., et al. Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable. Mol. Pain 4, 37 (2008).
2. Fertleman, C. R., et al. Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). Neurology 69, 586-595 (2007).
3. Estacion, M., et al. NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. J. Neurosci. 28, 11079-11088 (2008).
4. Hayden, R. & Grossman, M. Rectal, ocular, and submaxillary pain, a familial autonomic disorder related to proctalgia fugax: report of a family. Am. J. Dis. Child. 97, 479-482 (1959).
5. Dugan, R. E. Familial rectal pain. Lancet 1, 854 (1972).
6. Fertleman, C. R. & Ferrie C. D. Whats in a name-familial rectal pain syndrome becomes paroxysmal extreme pain disorder. J. Neurol. Neurosurg. Psychiatry 77, 1294-1295 (2006).
7. Djouhri, L., et al. Sensory and electrophysiological properties of guinea-pig sensory neurones expressing Nav1.7 (PN1) Na+ channel subunit protein. J. Physiol. 546, 565-576 (2003).
8. Toledo-Aral, J. J., et al. Identification of PN1, a predominant voltage dependent sodium channel expressed principally in peripheral neurons. Proc. Natl Acad. Sci. USA 94, 1527-1532 (1997).
9. Rush, A. M., et al. A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. Proc. Natl Acad. Sci. USA 103, 8245-8250 (2006).
10. Fertleman, C. R., et al. SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. Neuron 52, 767-774 (2006).
11. Jarecki, B. W., Sheets, P. L. & Jackson, J. O. Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation. J. Physiol. 586, 4137-4153 (2008).
12. Crill, W. Persistent sodium current in mammalian central neurons. Annu. Rev. Physiol. 58, 349-362 (1996).
13. Cheng, X., et al. Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel NaV1.7 produce distinct pain disorders. Mol. Pain 6, 24 (2010).
14. Drenth, J. P. H. & Waxman, S. G. Mutations in sodium channel gene SCN9A cause a spectrum of human genetic pain disorders. J. Clin. Invest. 177, 3603-3609 (2007).
15. Dib-Hajj, S. D., Cummins, T. R., Black, J. A. & Waxman, S. G. Sodium channels in normal and pathological pain. Annu. Rev. Neurosci. 33, 325-347 (2010).
16. Choi, J. S., et al. Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off. Exp. Neurol. 16, 383-389 (2009).
17. Fischer, T. Z., et al. A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. Ann. Neurol. 65, 733-741 (2009).
18. Williams, B. S., et al. Characterization of a new class of potent inhibitors of the voltage-gated sodium channel Nav1.7. Biochemistry 46, 14693-14703 (2007).