Nonamyloidogenic <i>TTR</i> gene variants c.<scp>76G</scp>>A and c.337‐<scp>18G</scp>>C are not associated with idiopathic small‐fiber neuropathy-Reference-Cited by-同舟云学术

Nonamyloidogenic TTR gene variants c.76G>A and c.337‐18G>C are not associated with idiopathic small‐fiber neuropathy

Published:2024-09-04 Issue: Volume: Page:
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Konecki Céline¹^ORCID,Francou Bruno¹,Chappell Kenneth¹,Augey Lucie¹,Beaudonnet Guillemette²,Cauquil Cécile²³,Dimitri‐Boulos Dalia³,Not Adeline³,Adam Clovis²,Poinsignon Vianney¹,Verstuyft Céline¹,Adams David²³^ORCID,Echaniz‐Laguna Andoni²³^ORCID,Labeyrie Céline²³^ORCID

Affiliation:

1. Génétique Moléculaire Pharmacogénétique et Hormonologie Bicêtre University Hospital, Public Hospital Network of Paris Le Kremlin‐Bicêtre France

2. Referral Center for Familial Amyloid Polyneuropathy and Other Rare Peripheral Neuropathies and Department of Neurology Bicêtre University Hospital, Public Hospital Network of Paris Le Kremlin‐Bicêtre France

3. Service de Neurologie Bicêtre University Hospital, Public Hospital Network of Paris Le Kremlin‐Bicêtre France

Abstract

AbstractBackground and PurposeSmall‐fiber neuropathy (SFN) affects only unmyelinated and thin myelinated fibers. It may be caused by amyloidogenic mutations of the transthyretin (TTR) gene, but not all TTR gene variants are pathogenic. The nonamyloidogenic c.76G>A (rs1800458) and c.337‐18G>C (rs36204272) variants of TTR were recently reported to be associated with SFN. We investigated this putative association by analyzing TTR gene sequencing data retrospectively for two cohorts of patients, one with SFN and a control group.MethodsIn this retrospective single‐center study, we analyzed the frequency of the c.76G>A and c.337‐18G>C TTR gene variants in a cohort of patients meeting a strict definition of SFN, with or without dysautonomia, a control cohort of patients investigated for nonneurological conditions, and the gnomAD international database.ResultsWe included 55 SFN patients in this study, 17 of whom had dysautonomia. The allelic frequencies of the two variants in our cohort of 55 SFN patients were 7.27% for c.76G>A TTR and 5.25% for c.337‐18G>C. The frequencies of both variants were statistically similar in the 337 control patients and the gnomAD database.ConclusionsThe c.76G>A and c.337‐18G>C TTR gene variants are not associated with SFN.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.16461

Reference20 articles.

1. Clinical diagnosis and management of small fiber neuropathy: an update on best practice

2. European Federation of Neurological Societies/Peripheral Nerve Society Guideline on the use of skin biopsy in the diagnosis of small fiber neuropathy. Report of a joint task force of the European Fe-deration of Neurological Societies and the Peripheral Ne

3. The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology

4. Diagnosis of small fiber neuropathy: A comparative study of five neurophysiological tests

5. Diagnostic Criteria for Small Fiber Neuropathy