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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 1/2024

07-07-2023 | Polyneuropathy | Letter to the Editor

Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings

Authors: Vasfiye Kabeloglu, Sena Aksoy, Aysun Soysal

Published in: Acta Neurologica Belgica | Issue 1/2024

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Excerpt

Hereditary motor sensory neuropathies (HMSNs), known as Charcot–Marie–Tooth disease (CMT), are clinically and genetically heterogenous conditions affecting the peripheral nerves. CMT is classified as demyelinating (CMT1) or axonal (CMT2). Distal hereditary motor neuropathy (dHMN) is a form of CMT2 in which the burden of disease falls predominantly on motor nerves [1]. More than 90% of cases in CMT1 have mutations in known genes, whereas only 20–30% of patients with CMT2 and dHMN receive a genetic diagnosis [2]. Up to 70% of CMT2 and dHMN cases are sporadic. …
Literature
1.
2.
Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J et al (2015) CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. J Neurol Neurosurg Psychiatry 86(8):873–878CrossRefPubMed
3.
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL et al (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot–Marie–Tooth neuropathy type 2A. Nat Genet 36(5):449–451CrossRefPubMed
4.
Cortese A, Zhu Y, Rebelo AP et al (2020) Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 52:473–481CrossRefPubMedPubMedCentral
5.
Hao W, Tashiro S, Hasegawa T et al (2015) Hyperglycemia promotes Schwann cell de-differentiation and demyelination via sorbitol accumulation and igf1 protein down-regulation. J Biol Chem 290(28):17106–17115CrossRefPubMedPubMedCentral
Metadata
Title
Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings
Authors
Vasfiye Kabeloglu
Sena Aksoy
Aysun Soysal
Publication date
07-07-2023
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 1/2024
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-023-02320-z

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