Neurological update: hereditary neuropathies

Caroline Kramarz; Alexander M Rossor

doi:10.1007/s00415-022-11164-1

Neurological update: hereditary neuropathies

J Neurol. 2022 Sep;269(9):5187-5191. doi: 10.1007/s00415-022-11164-1. Epub 2022 May 21.

Authors

Caroline Kramarz¹, Alexander M Rossor²

Affiliations

¹ Department of Neuromuscular Disease, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, WC1N 3BG, UK.
² Department of Neuromuscular Disease, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, WC1N 3BG, UK. [email protected].

Abstract

In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered CRISPR-Cas9 gene editing in ATTR amyloidosis.

Keywords: ATTR amyloidosis; Charcot–Marie–tooth disease; PMP22 gene silencing; SORD-associated CMT; SPTLC1-associated HSN1.

Publication types

Review

MeSH terms

Charcot-Marie-Tooth Disease* / genetics
Charcot-Marie-Tooth Disease* / therapy
Hereditary Sensory and Motor Neuropathy* / diagnosis
Hereditary Sensory and Motor Neuropathy* / genetics
Hereditary Sensory and Motor Neuropathy* / therapy
Humans
Liposomes
Nanoparticles

Substances

Lipid Nanoparticles
Liposomes