Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia-Reference-Cited by-同舟云学术

Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia

Published:2024-07-20 Issue:9 Volume:271 Page:6038-6044
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Marelli C.^ORCID,Ramond F.,Vignal C.,Blanchet C.,Frost S.,Hao Q.,Bocquet B.,Nadjar Y.,Leboucq N.,Taieb G.,Benkirane M.,Hersent C.,Koenig M.,Meunier I.

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00415-024-12574-z.pdf

Reference9 articles.

1. Das Bhowmik A, Patil SJ, Deshpande DV et al (2018) Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79. J Hum Genet 63:927–933. https://doi.org/10.1038/s10038-018-0463-6

2. Bilguvar K, Tyagi NK, Ozkara C et al (2013) Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A 110:3489–3494. https://doi.org/10.1073/pnas.1222732110

3. Rydning SL, Backe PH, Sousa MML et al (2017) Novel UCHL1 mutations reveal new insights into ubiquitin processing. Hum Mol Genet 26:1217–1218. https://doi.org/10.1093/hmg/ddx072

4. McMacken G, Lochmüller H, Bansagi B et al (2020) Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. J Neurol 267:3643–3649. https://doi.org/10.1007/s00415-020-10059-3

5. Park J, Tucci A, Cipriani V et al (2023) Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genet Med Off J Am Coll Med Genet. https://doi.org/10.1016/j.gim.2023.100961