Current PNRR Publications

Peripheral Neuropathy Research Registry (PNRR) Published Papers

Vitamin B6 levels do not correlate with severity of neuropathy in chronic idiopathic axonal polyneuropathy

December 21, 2021
In this study, researchers asked if elevated plasma vitamin B6 levels were related to outcomes measures in a well-characterized cohort of patients with chronic idiopathic axonal polyneuropathy (CIAP). It was concluded that vitamin B6 levels do not correlate with the severity of neuropathy. Please click here for full publication.

Authors: Simone Thomas, MS; Sarah Stewart, BA; Erol Höke; David M. Simpson, MD; J. Robinson Singleton, MD; Ahmet Höke, PhD, MD

Citation information: J Peripher Nerv Syst. 2021:

A circulating, disease-specific, mechanism-linked biomarker for ATTR polyneuropathy diagnosis and response to therapy prediction

December 17, 2020
In collaboration with the Kelly Laboratory, Protego Biopharma has developed an ELISA specific for non-native transthyretin that is being proposed to use as a diagnostic/prognostic assay in patients with Familial Amyloidotic Polyneuropathy (FAP) related to transthyretin deposition and carriers of mutations responsible for the disease. This study probed the biochemical mechanisms of amyloid diseases using 40 PNRR plasma samples (as a control), from idiopathic, chemotherapy-induced and diabetic peripheral neuropathy patients between the ages of 30 and 70, half male, half female. The researchers have currently concluded that their assay was able to detect biochemical markers of FAP in both pre-symptomatic and diagnosed FAP patients. The non-FAP controls from the PNRR patient samples did not show those biochemical markers, suggesting that this assay can be useful in diagnosing FAP. A second publication is expected to come out from this study. Please click here for current publication.

CONTRIBUTORS: Xin Jiang; Richard Labaudinière; Joel N. Buxbaum; Cecília Monteiro; Marta Novais; Teresa Coelho; Jeffery W. Kelly

Citation information: PNAS 2021:

Relation of exercise and pain in patients with idiopathic distal axonal polyneuropathies

October 6, 2020
This study was completed to do a comprehensive data analysis about the benefits of regular exercise in a well‐characterized cohort of patients with idiopathic distal, symmetrical, axonal polyneuropathy enrolled in the Peripheral Neuropathy Research Registry (PNRR) at Johns Hopkins University School of Medicine. The data suggests that patients with idiopathic neuropathy benefit from exercises even if performed on a low intensity level or less frequently, and patients are less likely to have severe pain symptoms when exercising on a regular basis. Please click here for full publication.

Authors: Simone Thomas, MS; Sarah Stewart, BA; Perry T.C. van Doormaal, PhD, MD; Ahmet Höke, PhD, MD

Citation information: J Peripher Nerv Syst. 2020;

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. Please click here for full publication.

Authors: Simone Thomas, MS; Senda Ajroud-Driss, MD; Mazen Dimachkie, MD; Christopher Gibbons; Roy Freeman, MD; David M. Simpson, MD; J. Robinson Singleton, MD; A. Gordon Smith, MD, FAAN; PNRR Study Group; Ahmet Höke, PhD, MD

Citation Information: J Peripher Nerv Syst. 2019;24:39–47.,

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:

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