학술논문
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
Document Type
article
Author
Gyda Bjornsdottir; Erna V. Ivarsdottir; Kristbjorg Bjarnadottir; Stefania Benonisdottir; Sandra Sif Gylfadottir; Gudny A. Arnadottir; Rafn Benediktsson; Gisli Hreinn Halldorsson; Anna Helgadottir; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Ingileif Jonsdottir; Anna Margret Kristinsdottir; Olafur Th. Magnusson; Gisli Masson; Pall Melsted; Thorunn Rafnar; Asgeir Sigurdsson; Gunnar Sigurdsson; Astros Skuladottir; Valgerdur Steinthorsdottir; Unnur Styrkarsdottir; Gudmundur Thorgeirsson; Gudmar Thorleifsson; Arnor Vikingsson; Daniel F. Gudbjartsson; Hilma Holm; Hreinn Stefansson; Unnur Thorsteinsdottir; Gudmundur L. Norddahl; Patrick Sulem; Thorgeir E. Thorgeirsson; Kari Stefansson
Source
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Subject
Language
English
ISSN
2041-1723
Abstract
Diagnosis and classification of peripheral neuropathy (PN) is facilitated by nerve conduction (NC) studies. Here, Bjornsdottir et al. find a low-frequency PRPH splice-donor variant that associates with NC amplitude and neurological assessment of recalled PRPH variant carriers reveals increased risk of a mild sensory-negative PN.