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Neurological update: hereditary neuropathies
- 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 :
- Neurology
Neurology (clinical)
Subjects
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