Journal ArticleDOI
Gain of function NaV1.7 mutations in idiopathic small fiber neuropathy
Catharina G. Faber,Janneke G. J. Hoeijmakers,Hye Sook Ahn,Hye Sook Ahn,Xiaoyang Cheng,Xiaoyang Cheng,Chongyang Han,Chongyang Han,Jin-Sung Choi,Jin-Sung Choi,Mark Estacion,Mark Estacion,Giuseppe Lauria,Els K. Vanhoutte,Monique M. Gerrits,Sulayman D. Dib-Hajj,Sulayman D. Dib-Hajj,Joost P.H. Drenth,Stephen G. Waxman,Stephen G. Waxman,Ingemar S. J. Merkies +20 more
TLDR
Screening patients with biopsy‐confirmed idiopathic SFN for mutations in the SCN9A gene, encoding voltage‐gated sodium channel NaV1.7, which is preferentially expressed in small diameter peripheral axons, identifies a genetic basis for I‐SFN.Citations
More filters
Journal ArticleDOI
Deconstructing the Neuropathic Pain Phenotype to Reveal Neural Mechanisms
TL;DR: The pain phenotype can serve as a window on underlying pathophysiological neural mechanisms and as a guide for developing personalized pain medicine.
Journal ArticleDOI
New Horizons in Diabetic Neuropathy: Mechanisms, Bioenergetics, and Pain
TL;DR: The structural components of the peripheral nervous system that underlie its susceptibility to metabolic insults are presented and the pathways that contribute to peripheral nerve injury in DN are discussed.
Journal ArticleDOI
The Na(V)1.7 sodium channel: from molecule to man.
Sulayman D. Dib-Hajj,Yang Yang,Yang Yang,Joel A. Black,Joel A. Black,Stephen G. Waxman,Stephen G. Waxman +6 more
TL;DR: Homology modelling based on crystal structures of ion channels suggests an atomic-level structural basis for the altered gating of mutant NaV1.7 that causes pain.
Journal ArticleDOI
Neuropathic Pain: From Mechanisms to Treatment
TL;DR: Neuropathic pain caused by a lesion or disease of the somatosensory nervous system is a common chronic pain condition with major impact on quality of life and the major classes of therapeutics include drugs acting on α2 δsubunits of calcium channels, sodium channels, and descending modulatory inhibitory pathways.
Journal ArticleDOI
Gain-of-function Nav1.8 mutations in painful neuropathy
Catharina G. Faber,Giuseppe Lauria,Ingemar S. J. Merkies,Xiaoyang Cheng,Xiaoyang Cheng,Chongyang Han,Chongyang Han,Hye Sook Ahn,Hye Sook Ahn,Anna Karin Persson,Anna Karin Persson,Janneke G. J. Hoeijmakers,Monique M. Gerrits,Tiziana Pierro,Raffaella Lombardi,Dimos Kapetis,Sulayman D. Dib-Hajj,Sulayman D. Dib-Hajj,Stephen G. Waxman,Stephen G. Waxman +19 more
TL;DR: Observations suggest that mutations of Nav1.8 contribute to painful peripheral neuropathy by enhancing the channel’s response to depolarization and producing hyperexcitability in DRG neurons.
References
More filters
Journal ArticleDOI
Diabetic Neuropathies: Update on Definitions, Diagnostic Criteria, Estimation of Severity, and Treatments
Solomon Tesfaye,Andrew J.M. Boulton,Peter J. Dyck,Roy Freeman,Michael Horowitz,Péter Kempler,Giuseppe Lauria,Rayaz A. Malik,Vincenza Spallone,Aaron I. Vinik,Luciano Bernardi,Paul Valensi +11 more
TL;DR: A joint meeting of the 19th annual Diabetic Neuropathy Study Group of the European Association for the Study of Diabetes (NEURODIAB) and the 8th International Symposium on Diabetes in Toronto, Canada, 13-18 October 2009, expert panels were convened to provide updates on classification, definitions, diagnostic criteria, and treatments of diabetic peripheral neuropathies as mentioned in this paper.
Journal ArticleDOI
An SCN9A channelopathy causes congenital inability to experience pain
James J. Cox,Frank Reimann,Adeline K Nicholas,Gemma K. Thornton,Emma Roberts,Kelly Springell,G. Karbani,Hussain Jafri,Jovaria Mannan,Yasmin Raashid,Lihadh Al-Gazali,Henan Hamamy,Enza Maria Valente,Shaun Gorman,Richard Aled Williams,Duncan McHale,John N. Wood,Fiona M. Gribble,C. Geoffrey Woods +18 more
TL;DR: The data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans, and should stimulate the search for novel analgesics that selectively target this sodium channel subunit.
Journal ArticleDOI
Development and preliminary validation of a pain measure specific to neuropathic pain The Neuropathic Pain Scale
Bradley S. Galer,Mark P. Jensen +1 more
TL;DR: Results support the discriminant and predictive validity of the NPS items and appear to be sensitive to treatments known to impact neuropathic pain.
Journal ArticleDOI
European federation of neurological societies/peripheral nerve society guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. report of a joint task force of the european fe-deration of neurological societies and the peripheral nerve society
Giuseppe Lauria,Sung-Tsieh Hsieh,Olle Johansson,William R. Kennedy,Jean-Marc Léger,Svein Ivar Mellgren,Maria Nolano,Ingemar S. J. Merkies,Michael Polydefkis,A. G. Smith,Cornelia Sommer,J. Valls-Solé +11 more
TL;DR: Revision of the guidelines on the use of skin biopsy in the diagnosis of peripheral neuropathy, published in 2005, has become appropriate owing to publication of more relevant articles and most of the new studies focused on small fiber neuropathy (SFN).
Journal ArticleDOI
SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes
Caroline Fertleman,Mark D. Baker,K. Parker,Sarah Moffatt,F. V. Elmslie,Bjarke Abrahamsen,Johan Ostman,Norbert Klugbauer,John N. Wood,R. Mark Gardiner,M Rees +10 more
TL;DR: A genome-wide linkage search followed by mutational analysis of the candidate gene SCN9A, which encodes hNa(v)1.7, identified eight missense mutations in 11 families and 2 sporadic cases of PEPD mutants that revealed a reduction in fast inactivation, leading to persistent sodium current.
Related Papers (5)
An SCN9A channelopathy causes congenital inability to experience pain
James J. Cox,Frank Reimann,Adeline K Nicholas,Gemma K. Thornton,Emma Roberts,Kelly Springell,G. Karbani,Hussain Jafri,Jovaria Mannan,Yasmin Raashid,Lihadh Al-Gazali,Henan Hamamy,Enza Maria Valente,Shaun Gorman,Richard Aled Williams,Duncan McHale,John N. Wood,Fiona M. Gribble,C. Geoffrey Woods +18 more