Small fibre neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C fibres. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to a significant reduction in quality of life. According to international criteria, the diagnosis is established by the assessment of intra-epidermal nerve fibre density and/or quantitative sensory testing. SFN is mainly associated with autoimmune diseases, sodium channel gene variants, diabetes mellitus, and vitamin B12 deficiencies, although in more than one-half of patients no etiology can be identified. Recently, gain-of-function variants in the genes encoding for the Nav 1.7, Nav 1.8 and Nav 1.9 sodium channel subunits have been discovered in SFN patients, enlarging the spectrum of underlying conditions. Sodium channel gene variants associated with SFN can lead to a diversity of phenotypes, including different pain distributions and presence or absence of autonomic symptoms. This suggests that SFN is part of a clinical continuum. New assessments might contribute to a better understanding of the cellular and molecular substrates of SFN and might provide improved diagnostic methods and trial designs in the future. Identification of the underlying mechanisms may inform the development of drugs that more effectively address neuropathic pain and autonomic symptoms of SFN.
Small fibre neuropathy : expanding the clinical pain universe / M. Sopacua, J.G.J. Hoeijmakers, I.S.J. Merkies, G. Lauria, S.G. Waxman, C.G. Faber. - In: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM. - ISSN 1085-9489. - (2018 Dec 19). [Epub ahead of print] [10.1111/jns.12298]
Small fibre neuropathy : expanding the clinical pain universe
G. Lauria;
2018
Abstract
Small fibre neuropathy (SFN) is a disorder of thinly myelinated Aδ and unmyelinated C fibres. SFN is clinically dominated by neuropathic pain and autonomic complaints, leading to a significant reduction in quality of life. According to international criteria, the diagnosis is established by the assessment of intra-epidermal nerve fibre density and/or quantitative sensory testing. SFN is mainly associated with autoimmune diseases, sodium channel gene variants, diabetes mellitus, and vitamin B12 deficiencies, although in more than one-half of patients no etiology can be identified. Recently, gain-of-function variants in the genes encoding for the Nav 1.7, Nav 1.8 and Nav 1.9 sodium channel subunits have been discovered in SFN patients, enlarging the spectrum of underlying conditions. Sodium channel gene variants associated with SFN can lead to a diversity of phenotypes, including different pain distributions and presence or absence of autonomic symptoms. This suggests that SFN is part of a clinical continuum. New assessments might contribute to a better understanding of the cellular and molecular substrates of SFN and might provide improved diagnostic methods and trial designs in the future. Identification of the underlying mechanisms may inform the development of drugs that more effectively address neuropathic pain and autonomic symptoms of SFN.File | Dimensione | Formato | |
---|---|---|---|
Sopacua_et_al-2018-Journal_of_the_Peripheral_Nervous_System.pdf
Open Access dal 08/02/2020
Tipologia:
Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione
1.28 MB
Formato
Adobe PDF
|
1.28 MB | Adobe PDF | Visualizza/Apri |
Sopacua_et_al-2019-Journal_of_the_Peripheral_Nervous_System.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
1.02 MB
Formato
Adobe PDF
|
1.02 MB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.