Erschienen in:
07.07.2023 | Letter to the Editor
Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings
verfasst von:
Vasfiye Kabeloglu, Sena Aksoy, Aysun Soysal
Erschienen in:
Acta Neurologica Belgica
|
Ausgabe 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. …