Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?

Veria Vacchiano
* ,
Flavia Palombo
,
Danara Ormanbekova
,
Claudio Fiorini
,
Alessia Fiorentino
,
Leonardo Caporali
,
Andrea Mastrangelo
,
Maria Lucia Valentino
,
Sabina Capellari
ORCID logo ,
Rocco Liguori
ORCID logo ,
Valerio Carelli
ORCID logo
Version 1 : Received: 24 July 2023 / Approved: 25 July 2023 / Online: 26 July 2023 (11:25:04 CEST)

How to cite: Vacchiano, V.; Palombo, F.; Ormanbekova, D.; Fiorini, C.; Fiorentino, A.; Caporali, L.; Mastrangelo, A.; Valentino, M.L.; Capellari, S.; Liguori, R.; Carelli, V. The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?. Preprints 2023, 2023071739. https://doi.org/10.20944/preprints202307.1739.v1 Vacchiano, V.; Palombo, F.; Ormanbekova, D.; Fiorini, C.; Fiorentino, A.; Caporali, L.; Mastrangelo, A.; Valentino, M.L.; Capellari, S.; Liguori, R.; Carelli, V. The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?. Preprints 2023, 2023071739. https://doi.org/10.20944/preprints202307.1739.v1

Abstract

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old man diagnosed with ALS with an atypical phenotype, due to the presence of a progressive ocular ptosis. Genetic analyses revealed two variants in SOD1 and TBK1 genes respectively and the LHON-associated m.14484T>C variant in the mitochondrial DNA (mtDNA). We discuss how all these variants may synergically impinge on mitochondrial function, contributing to the pathogenic mechanisms which might ultimately lead to the neurodegenerative process, possibly influencing the clinical ALS phenotype.

Keywords

SOD1; amyotrophic lateral sclerosis; TBK1; mitochondrial DNA; oligogenic inheritance.

Subject

Medicine and Pharmacology, Neuroscience and Neurology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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