Article

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

2023-07-26

Abstract excerpt

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...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c2f8d570-573a-5073-8d90-9f2c3a529f50
DOI: 10.20944/preprints202307.1739.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Genetic Puzzle of a SOD1-Patient with Ocular Ptosis and a Motor Neuron Disease: How Many Variants Contribute to the Phenotype?DOI 10.20944/preprints202307.1739.v1Read

Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric studySemantic proximity Read

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALSSemantic proximity Read

Amyotrophic lateral sclerosis and SOD1 gene: an overview.Semantic proximity Read

Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease preventionSemantic proximity Read

SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP GuidelinesSemantic proximity Read

Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with SOD1 common variants.Semantic proximity Read

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common VariantsSemantic proximity Read

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.Semantic proximity Read

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.Semantic proximity Read

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients.Semantic proximity Read

Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis.Semantic proximity Read

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 geneSemantic proximity Read