Nature Communications (Apr 2019)
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
- 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
Affiliations
- Gyda Bjornsdottir
- deCODE Genetics/Amgen, Inc.
- Erna V. Ivarsdottir
- deCODE Genetics/Amgen, Inc.
- Kristbjorg Bjarnadottir
- deCODE Genetics/Amgen, Inc.
- Stefania Benonisdottir
- deCODE Genetics/Amgen, Inc.
- Sandra Sif Gylfadottir
- Danish Pain Research Center/Aarhus University Hospital
- Gudny A. Arnadottir
- deCODE Genetics/Amgen, Inc.
- Rafn Benediktsson
- Faculty of Medicine, University of Iceland
- Gisli Hreinn Halldorsson
- deCODE Genetics/Amgen, Inc.
- Anna Helgadottir
- deCODE Genetics/Amgen, Inc.
- Adalbjorg Jonasdottir
- deCODE Genetics/Amgen, Inc.
- Aslaug Jonasdottir
- deCODE Genetics/Amgen, Inc.
- Ingileif Jonsdottir
- deCODE Genetics/Amgen, Inc.
- Anna Margret Kristinsdottir
- deCODE Genetics/Amgen, Inc.
- Olafur Th. Magnusson
- deCODE Genetics/Amgen, Inc.
- Gisli Masson
- deCODE Genetics/Amgen, Inc.
- Pall Melsted
- deCODE Genetics/Amgen, Inc.
- Thorunn Rafnar
- deCODE Genetics/Amgen, Inc.
- Asgeir Sigurdsson
- deCODE Genetics/Amgen, Inc.
- Gunnar Sigurdsson
- deCODE Genetics/Amgen, Inc.
- Astros Skuladottir
- deCODE Genetics/Amgen, Inc.
- Valgerdur Steinthorsdottir
- deCODE Genetics/Amgen, Inc.
- Unnur Styrkarsdottir
- deCODE Genetics/Amgen, Inc.
- Gudmundur Thorgeirsson
- deCODE Genetics/Amgen, Inc.
- Gudmar Thorleifsson
- deCODE Genetics/Amgen, Inc.
- Arnor Vikingsson
- Landspitali—The National University Hospital of Iceland
- Daniel F. Gudbjartsson
- deCODE Genetics/Amgen, Inc.
- Hilma Holm
- deCODE Genetics/Amgen, Inc.
- Hreinn Stefansson
- deCODE Genetics/Amgen, Inc.
- Unnur Thorsteinsdottir
- deCODE Genetics/Amgen, Inc.
- Gudmundur L. Norddahl
- deCODE Genetics/Amgen, Inc.
- Patrick Sulem
- deCODE Genetics/Amgen, Inc.
- Thorgeir E. Thorgeirsson
- deCODE Genetics/Amgen, Inc.
- Kari Stefansson
- deCODE Genetics/Amgen, Inc.
- DOI
- https://doi.org/10.1038/s41467-019-09719-4
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 10
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.
