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Brain. 2017 Apr 1;140(4):868-877. doi: 10.1093/brain/aww301.

Axonal neuropathy with neuromyotonia: there is a HINT.

Author information

1
Molecular Neurogenomics Group, Department of Molecular Genetics, VIB and University of Antwerp, Antwerpen 2610, Belgium.
2
Department of Neurology, Medical University-Sofia, Sofia 1431, Bulgaria.
3
Department of Cognitive Science and Psychology, New Bulgarian University, Sofia 1618, Bulgaria.
4
Department of Medical Chemistry and Biochemistry, Molecular Medicine Center, Medical University-Sofia, Sofia 1431, Bulgaria.

Abstract

Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot-Marie-Tooth 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 Charcot-Marie-Tooth 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 Charcot-Marie-Tooth subtype.

KEYWORDS:

CMT; HINT1; clinical characteristics; neuromyotonia; neuropathy

PMID:
28007994
PMCID:
PMC5382946
DOI:
10.1093/brain/aww301
[Indexed for MEDLINE]
Free PMC Article

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