Genetic testing in motor neurone disease.
ALS
clinical neurology
genetics
motor neurone disease
neurogenetics
Journal
Practical neurology
ISSN: 1474-7766
Titre abrégé: Pract Neurol
Pays: England
ID NLM: 101130961
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
accepted:
05
12
2021
pubmed:
15
1
2022
medline:
23
3
2022
entrez:
14
1
2022
Statut:
ppublish
Résumé
A minority (10%-15%) of cases of amyotrophic lateral sclerosis (ALS), the most common form of motor neurone disease (MND), are currently attributable to pathological variants in a single identifiable gene. With the emergence of new therapies targeting specific genetic subtypes of ALS, there is an increasing role for routine genetic testing for all those with a definite diagnosis. However, potential harm to both affected individuals and particularly to asymptomatic relatives can arise from the indiscriminate use of genetic screening, not least because of uncertainties around incomplete penetrance and variants of unknown significance. The most common hereditary cause of ALS, an intronic hexanucleotide repeat expansion in
Identifiants
pubmed: 35027459
pii: practneurol-2021-002989
doi: 10.1136/practneurol-2021-002989
pmc: PMC8938673
doi:
Substances chimiques
C9orf72 Protein
0
Proteins
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
107-116Subventions
Organisme : Medical Research Council
ID : MR/L002167/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T006927/1
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : SCABER/JULY13/945-795
Pays : United Kingdom
Organisme : Motor Neurone Disease Association
ID : TURNER/OCT18/989-797
Pays : United Kingdom
Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
JAMA Neurol. 2016 Mar;73(3):282-90
pubmed: 26810632
Genet Mol Biol. 2012 Jul;35(3):583-8
pubmed: 23055795
Neuroepidemiology. 2021;55(5):342-353
pubmed: 34247168
Eur J Neurol. 2012 Mar;19(3):360-75
pubmed: 21914052
Ann Neurol. 2018 Jul;84(1):130-139
pubmed: 30014505
Hum Mol Genet. 2012 Sep 1;21(17):3776-84
pubmed: 22645277
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
JAMA Neurol. 2017 Jan 1;74(1):125-126
pubmed: 27893008
Sci Transl Med. 2017 Mar 29;9(383):
pubmed: 28356511
N Engl J Med. 2020 Jul 9;383(2):109-119
pubmed: 32640130
J Neurol Neurosurg Psychiatry. 2021 May;92(5):510-518
pubmed: 33589474
Med J Aust. 2017 May 1;206(8):357-362
pubmed: 28446118
Pract Neurol. 2020 Aug;20(4):262-269
pubmed: 32217663
Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14 Suppl 1:5-18
pubmed: 23678876
Neurology. 2012 Oct 16;79(16):1732-9
pubmed: 23071166
J Neurol. 2018 Oct;265(10):2454-2462
pubmed: 30054789
Lancet Neurol. 2012 Apr;11(4):323-30
pubmed: 22406228
Ann Neurol. 2013 Nov;74(5):699-708
pubmed: 23836460
J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):365-7
pubmed: 22399794
Brain. 2011 Dec;134(Pt 12):3454-7
pubmed: 21933809
Neurology. 2017 Oct 31;89(18):1915-1922
pubmed: 28978660
Neurol Genet. 2020 Jan 13;6(1):e390
pubmed: 32042918
Int J Mol Sci. 2020 Sep 16;21(18):
pubmed: 32948071
Lancet Neurol. 2014 Nov;13(11):1108-1113
pubmed: 25300936
Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):172-6
pubmed: 23421625
J Neurol Neurosurg Psychiatry. 2017 Dec;88(12):1042-1044
pubmed: 28642287
J Neurol Neurosurg Psychiatry. 2015 May;86(5):496-501
pubmed: 25550416
Neurology. 2010 Aug 17;75(7):611-8
pubmed: 20668261
Hum Hered. 2011;71(4):281-8
pubmed: 21846995
J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):201-206
pubmed: 34518333
Neurology. 2009 Oct 13;73(15):1227-33
pubmed: 19822873
Neurol Genet. 2019 Jan 07;5(1):e301
pubmed: 30697590
Mol Genet Genomic Med. 2018 Mar;6(2):224-229
pubmed: 29266834
JAMA Neurol. 2017 Dec 1;74(12):1425-1430
pubmed: 29049464
Lancet. 2016 Aug 27;388(10047):919-31
pubmed: 26987909
Nat Rev Neurol. 2017 Feb;13(2):96-104
pubmed: 27982040
N Engl J Med. 2018 Apr 12;378(15):1454-1456
pubmed: 29641956
Sci Rep. 2017 May 18;7(1):2116
pubmed: 28522837
J Genet Couns. 2017 Jun;26(3):604-611
pubmed: 27761850
Amyotroph Lateral Scler. 2011 May;12(3):157-9
pubmed: 21208036
Am J Hum Genet. 2016 Jun 2;98(6):1067-1076
pubmed: 27181684
Amyotroph Lateral Scler Other Motor Neuron Disord. 2002 Mar;3(1):15-21
pubmed: 12061944
J Med Genet. 2020 May 14;:
pubmed: 32409511
J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):540-549
pubmed: 28057713
J Med Genet. 2021 May 7;:
pubmed: 33963046
Front Neurosci. 2019 Mar 11;13:175
pubmed: 30914912
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):216-221
pubmed: 30931630
Ann Neurol. 2004 Feb;55(2):298-9; author reply 299
pubmed: 14755739
Ann Neurol. 2015 Jan;77(1):100-13
pubmed: 25382069
Science. 2006 Oct 6;314(5796):130-3
pubmed: 17023659
Pract Neurol. 2013 Jun;13(3):153-64
pubmed: 23616620