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Neurological update: hereditary neuropathies

Authors :
Caroline Kramarz
Alexander M. Rossor
Source :
Journal of Neurology. 269:5187-5191
Publication Year :
2022
Publisher :
Springer Science and Business Media LLC, 2022.

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.

Subjects

Subjects :
Neurology
Neurology (clinical)

Details

ISSN :
14321459 and 03405354
Volume :
269
Database :
OpenAIRE
Journal :
Journal of Neurology
Accession number :
edsair.doi...........285d25dc837cfcf34755cde96d142b42
Full Text :
https://doi.org/10.1007/s00415-022-11164-1