Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
amyotrophic lateral sclerosis
genetics
motor neuron disease
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2023
2023
Historique:
received:
20
12
2022
revised:
24
02
2023
accepted:
05
05
2023
medline:
24
5
2023
pubmed:
24
5
2023
entrez:
24
5
2023
Statut:
epublish
Résumé
Therapy of motoneuron diseases entered a new phase with the use of intrathecal antisense oligonucleotide therapies treating patients with specific gene mutations predominantly in the context of familial amyotrophic lateral sclerosis. With the majority of cases being sporadic, we conducted a cohort study to describe the mutational landscape of sporadic amyotrophic lateral sclerosis. We analysed genetic variants in amyotrophic lateral sclerosis-associated genes to assess and potentially increase the number of patients eligible for gene-specific therapies. We screened 2340 sporadic amyotrophic lateral sclerosis patients from the German Network for motor neuron diseases for variants in 36 amyotrophic lateral sclerosis-associated genes using targeted next-generation sequencing and for the
Identifiants
pubmed: 37223130
doi: 10.1093/braincomms/fcad152
pii: fcad152
pmc: PMC10202555
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcad152Informations de copyright
© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.
Déclaration de conflit d'intérêts
The authors report no competing interests.
Références
Acta Neuropathol. 2016 Sep;132(3):391-411
pubmed: 26910103
J Neurol Sci. 1999 Oct 31;169(1-2):13-21
pubmed: 10540002
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nat Med. 2022 Jan;28(1):104-116
pubmed: 35075293
Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9851-5
pubmed: 23696674
Nucleic Acids Res. 2022 Jan 7;50(D1):D988-D995
pubmed: 34791404
Bioinformatics. 2019 Jun 1;35(11):1978-1980
pubmed: 30376034
J Neurol Neurosurg Psychiatry. 2021 May;92(5):510-518
pubmed: 33589474
Neuron. 2011 Oct 20;72(2):257-68
pubmed: 21944779
Trends Mol Med. 2016 Sep;22(9):769-783
pubmed: 27498188
Transl Neurodegener. 2019 Jan 08;8:2
pubmed: 30637102
Nature. 2010 Oct 28;467(7319):1061-73
pubmed: 20981092
J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827
pubmed: 29650794
Neuroepidemiology. 2021;55(5):342-353
pubmed: 34247168
Neurobiol Aging. 2012 Oct;33(10):2527.e11-6
pubmed: 22727276
Aging Dis. 2019 Dec 1;10(6):1199-1206
pubmed: 31788332
Nature. 2015 Oct 1;526(7571):82-90
pubmed: 26367797
Eur J Hum Genet. 2018 Oct;26(10):1537-1546
pubmed: 29955173
Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98
pubmed: 25428349
Brain. 1992 Apr;115 ( Pt 2):495-520
pubmed: 1606479
Lancet Neurol. 2012 Apr;11(4):323-30
pubmed: 22406228
Lifetime Data Anal. 2000 Mar;6(1):39-58
pubmed: 10763560
N Engl J Med. 2017 Jul 13;377(2):162-172
pubmed: 28700839
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Neuron. 2020 Dec 9;108(5):822-842
pubmed: 32931756
Nucleic Acids Res. 2017 Jan 4;45(D1):D840-D845
pubmed: 27899611
Rev Neurol (Paris). 2017 May;173(5):254-262
pubmed: 28449881
Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):291-2
pubmed: 26121170
Genome Med. 2020 Dec 2;12(1):103
pubmed: 33261662
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
Nat Rev Dis Primers. 2017 Oct 20;3:17085
pubmed: 29052611
J Neurol Neurosurg Psychiatry. 2019 Mar;90(3):268-271
pubmed: 30270202
Nat Rev Neurosci. 2022 Apr;23(4):231-251
pubmed: 35260846
Neuroepidemiology. 1994;13(5):226-35
pubmed: 7969707
Front Neurosci. 2019 May 17;13:485
pubmed: 31156370
Amyotroph Lateral Scler. 2011 Jul;12(4):238-49
pubmed: 21702733
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
J Neurol. 2019 Jun;266(6):1516-1525
pubmed: 30923935
Mol Genet Genomic Med. 2022 Jul;10(7):e1953
pubmed: 35426263
Science. 2021 Aug 27;373(6558):1030-1035
pubmed: 34385354
Twin Res Hum Genet. 2013 Feb;16(1):144-9
pubmed: 23088889
Amyotroph Lateral Scler Frontotemporal Degener. 2019 Aug;20(5-6):432-440
pubmed: 31280677
J Neurol Neurosurg Psychiatry. 2020 Sep;91(9):1007-1009
pubmed: 32788256
N Engl J Med. 2022 Sep 22;387(12):1099-1110
pubmed: 36129998
J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):540-549
pubmed: 28057713
J Mol Biol. 1975 Nov 5;98(3):503-17
pubmed: 1195397
Neurobiol Aging. 2016 Feb;38:217.e15-217.e22
pubmed: 26725464