Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12311-024-01705-x.pdf
Reference14 articles.
1. Beaudin M, Sellami L, Martel C, Touzel-Deschênes L, Houle G, Martineau L, et al. Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34. Neurol Genet. 2020;6:e403.
2. Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, et al. A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34. JAMA Neurol. 2015;72:797–805.
3. Gyening YK, Chauhan NK, Tytanic M, Ea V, Brush RS, Agbaga MP. ELOVL4 mutations that cause spinocerebellar ataxia-34 differentially alter very long chain fatty acid biosynthesis. J Lipid Res. 2023;64:100317.
4. Gyening YK, Boris K, Cyril M, Brush RS, Nassogne MC, Agbaga MP. A novel ELOVL4 variant, L168S, causes early childhood-onset spinocerebellar ataxia-34 and retinal dysfunction: a case report. Acta Neuropathol Commun. 2023;11:131.
5. Cadieux-Dion M, Turcotte-Gauthier M, Noreau A, Martin C, Meloche C, Gravel M, et al. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large french-canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 2014;71:470–5.
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