Peripheral Neuropathy Research Registry (PNRR) Published Papers
Peripheral Neuropathy Research Registry: A Prospective Cohort
January 4, 2019
Descriptive paper of the PNRR cohort as a multi-center collaboration initiated and funded by the Foundation for Peripheral Neuropathy (FPN) with the objective to build a well-characterized cohort of patients with different peripheral neuropathy phenotypes. Information from the first 1150 patients enrolled in the study was analyzed to document observed differences between idiopathic, diabetic, HIV- and CIPN-induced PN. Statistical analysis was not included in the paper.
Authors: Simone Thomas, Senda Ajroud-Driss, MD, Mazen Dimachkie, Christopher Gibbons, Roy Freeman, MD, David M. Simpson, MD, J. Robinson Singleton, A. Gordon Smith, MD, FAAN, PNRR Study Group, Ahmet Höke, PhD, MD
Citation Information: J Peripher Nerv Syst. 2019;24:39–47. wileyonlinelibrary.com/journal/jns, https://doi.org/10.1111/jns.12301
NaV Channel Variants in Patients with Painful and Non-Painful Peripheral Neuropathy
July 25, 2017
Next-generation sequencing was performed on DNA samples of 278 idiopathic (67% painful and 33% nonpainful) and 179 diabetic distal polyneuropathy patients (77% painful and 23% nonpainful) to examine the incidence of nonsynonymous missense variants in SCN9A (NaV1.7), SCN10A (NaV1.8), and SCN11A (NaV1.9). There were no significant differences in missense variant allele frequencies of any gene, or SCN9A haplotype frequencies, between PNRR patients with painful or non-painful peripheral neuropathy. PNRR patient SCN9A and SCN11A missense variant allele frequencies were not significantly different from the Exome Variant Server, European American (EVS-EA) reference population. For SCN10A, there was a significant increase in the alternate allele frequency of the common variant p.V1073A and low-frequency variant pS509P in PNRR patients compared with EVS-EA and the 1000 Genomes European reference populations.
Authors: Samir Wadhawan, PhD, Saumya Pant, PhD, Ryan Golhar, PhD, Stefan Kirov, PhD, John Thompson, PhD, Leslie Jacobsen, MD, Irfan Qureshi, MD, Senda Ajroud-Driss, MD, Roy Freeman, MD, David M. Simpson, MD, A. Gordon Smith, MD, FAAN, Ahmet Höke, PhD, MD, Linda J. Bristow, PhD
Citation Information: https://ng.neurology.org/content/3/6/e207