Publication
Title
Axonal neuropathy with neuromyotonia : there is a HINT
Author
Abstract
Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant CharcotMarieTooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to distinguish this disease and to guide diagnostic screening. HINT1 neuropathy has worldwide distribution and is particularly prevalent in populations inhabiting central and south-eastern Europe. With 12 different mutations identified in more than 60 families, it ranks among the most common subtypes of axonal CharcotMarieTooth neuropathy. This article provides an overview of the present knowledge on HINT1 neuropathy with the aim to increase awareness and spur interest among clinicians and researchers in the field. We propose diagnostic guidelines to recognize and differentiate this entity and suggest treatment strategies to manage common symptoms. As a recent player in the field of hereditary neuropathies, the role of HINT1 in peripheral nerves is unknown and the underlying disease mechanisms are unexplored. We provide a comprehensive overview of the structural and functional characteristics of the HINT1 protein that may guide further studies into the molecular aetiology and treatment strategies of this peculiar CharcotMarieTooth subtype.
Language
English
Source (journal)
Brain. - London
Publication
London : 2017
ISSN
0006-8950
DOI
10.1093/BRAIN/AWW301
Volume/pages
140 :4 (2017) , p. 868-877
ISI
000397319400012
Pubmed ID
28007994
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Project info
Unraveling the molecular architecture of peripheral nerves- a system genetics approach.
Unravelling the molecular architecture of autosomal recessive Charcot-Marie-Tooth neuropathiess.
Unraveling the nuclear function of tyrosyl-tRNA synthetase and its connection to Dominant Intermediate Charcot-Marie -Tooth type C disease.
Unraveling the molecular basis and genetic epidemiology of Charcot-Marie-Tooth neurpathies: contribution from Northeast Brazil.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 19.04.2017
Last edited 09.10.2023
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