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Neurological Sciences

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11-11-2023 | Amyotrophic Lateral Sclerosis | Original Article

Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study

Authors: Nan Hu, Lei Zhang, Dongchao Shen, Xunzhe Yang, Mingsheng Liu, Liying Cui

Published in: Neurological Sciences | Issue 4/2024

Abstract

Objective

This study is to determine the incidence of genetic forms of amyotrophic lateral sclerosis (ALS) in clinic-based population.

Methods

Next-generation sequencing (NGS) of whole exome sequencing (WES) was conducted among a total of 374 patients with definite or probable ALS to identify ALS-associated genes based on ALSoD database (https://alsod.ac.uk) [2023–07-01].

Results

Variants of ALS-associated genes were detected in 54.01% (202/374) ALS patients, among which 8.29% (31/374) were pathogenic/likely pathogenic (P/LP). The detection rates of P/LP variants were significantly higher in familial ALS than sporadic ALS (42.31% vs 5.75%, p < 0.001), while VUS mutations were more commonly detected in sporadic ALS (23.07% vs 47.13%, p = 0.018). There is no significant difference in detection rate between patients with and without early onset (8.93% vs 7.77%), rapid progression (9.30% vs 8.91%), cognitive decline (15.00% vs 7.93%), and cerebellar ataxia (20.00% vs 8.15%) (p > 0.05).

Conclusion

Over half of our ALS patients carried variants of ALS-related genes, most of which were variants of uncertain significance (VUS). Family history of ALS could work as strong evidence for carrying P/LP variants regarding ALS. There was no additionally suggestive effect of indicators including early onset, progression rate, cognitive decline, or cerebellar ataxia on the recommendation of genetic testing in clinical practice.

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Title: Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
Authors: Nan Hu
Lei Zhang
Dongchao Shen
Xunzhe Yang
Mingsheng Liu
Liying Cui
Publication date: 11-11-2023
Publisher: Springer International Publishing
Keyword: Amyotrophic Lateral Sclerosis
Published in: Neurological Sciences / Issue 4/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-023-07178-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study

Abstract

Objective

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objective

Methods

Results

Conclusion

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