A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

Abstract Spinocerebellar ataxia 34 (SCA34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused by mutations in the Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) gene. The ELOVL4 enzyme catalyzes the biosynthesis of both very long ch...

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Bibliographic Details
Main Authors: Yeboah Kofi Gyening, Keren Boris, Mignot Cyril, Richard S. Brush, Marie-Cécile Nassogne, Martin-Paul Agbaga
Format: Article
Language:English
Published: BMC 2023-08-01
Series:Acta Neuropathologica Communications
Subjects:
Spinocerebellar ataxia 34 (SCA34)
Elongation of very long chain fatty acids-4 (ELOVL4)
Very long chain polyunsaturated fatty acid (VLC-PUFA)
Very long chain saturated fatty acid (VLC-SFA)
Erythrokeratodermia variabilis (EKV)
Autosomal dominant Stargardt-like macular dystrophy (STGD3)
Online Access:https://doi.org/10.1186/s40478-023-01628-4

Internet

https://doi.org/10.1186/s40478-023-01628-4

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