Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)

Fatty acid hydroxylase-associated neurodegeneration (FAHN/SPG35) is caused by pathogenic variants in <i>FA2H</i> and has been linked to a continuum of specific motor and non-motor neurological symptoms, leading to progressive disability. As an ultra-rare disease, its mutational spectrum...

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Bibliographic Details
Main Authors: Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A. Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
hereditary spastic paraplegia
SPG35
FA2H
FAHN
genetic variant modeling
Online Access:https://www.mdpi.com/2073-4425/15/1/14

Internet

https://www.mdpi.com/2073-4425/15/1/14

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