The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.
diagnosis
gene discovery
hereditary cerebellar ataxia
hereditary spastic paraplegia
neurogenetics
spinocerebellar ataxia
spinocerebellar degeneration
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
07
12
2020
accepted:
02
03
2021
entrez:
9
4
2021
pubmed:
10
4
2021
medline:
10
4
2021
Statut:
epublish
Résumé
Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and management in daily clinical practice. Correct diagnosis is a pillar for precision medicine, a branch of medicine that promises to flourish with the progressive improvements in studying the human genome. Discovering the genes causing novel Mendelian phenotypes contributes to precision medicine by diagnosing subsets of patients with previously undiagnosed conditions, guiding the management of these patients and their families, and enabling the discovery of more causes of Mendelian diseases. This new knowledge provides insight into the biological processes involved in health and disease, including the more common complex disorders. This review discusses the evolution of the clinical and genetic approaches used to diagnose hereditary SCD and the potential of new tools for future discoveries.
Identifiants
pubmed: 33833777
doi: 10.3389/fgene.2021.638730
pmc: PMC8021710
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
638730Informations de copyright
Copyright © 2021 Yahia and Stevanin.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Ann Neurol. 2002 Feb;51(2):264-70
pubmed: 11835386
Mol Syndromol. 2020 Feb;11(1):4-14
pubmed: 32256296
Nature. 1995 Nov 23;378(6555):403-6
pubmed: 7477379
PLoS Biol. 2010 Jun 29;8(6):e1000408
pubmed: 20613862
Am J Hum Genet. 2012 Sep 7;91(3):553-64
pubmed: 22901947
Handb Clin Neurol. 2018;147:105-123
pubmed: 29325606
Nat Rev Drug Discov. 2016 Jul;15(7):473-84
pubmed: 26965202
Neurology. 2005 Apr 12;64(7):1204-8
pubmed: 15824347
J Child Neurol. 2013 Jul;28(7):926-32
pubmed: 23611888
Hum Mutat. 2018 Jan;39(1):140-151
pubmed: 29034544
J Inherit Metab Dis. 2018 May;41(3):425-434
pubmed: 29536202
Genet Med. 2019 Nov;21(11):2413-2421
pubmed: 31182824
Semin Neurol. 1993 Dec;13(4):333-6
pubmed: 8146482
Nat Commun. 2019 Nov 21;10(1):5274
pubmed: 31754101
EPMA J. 2016 Dec 8;7:24
pubmed: 27980697
J Mol Diagn. 2020 Sep;22(9):1205-1215
pubmed: 32619640
Nat Biotechnol. 2012 Aug;30(8):771-6
pubmed: 22797562
J Proteome Res. 2017 Dec 1;16(12):4281-4287
pubmed: 28853897
J Neurol. 2016 Mar;263(3):591-3
pubmed: 26810722
Am J Hum Genet. 2013 Feb 7;92(2):238-44
pubmed: 23332916
Front Neurol. 2020 Aug 26;11:902
pubmed: 32982927
BMC Med Genomics. 2019 Jan 21;12(1):11
pubmed: 30665423
Sci Rep. 2020 Feb 24;10(1):3235
pubmed: 32094380
Ann Lab Med. 2019 May;39(3):299-310
pubmed: 30623622
Science. 2014 Jan 31;343(6170):506-511
pubmed: 24482476
Mol Syst Biol. 2019 Feb 18;15(2):e8503
pubmed: 30777892
Neurology. 2010 Oct 19;75(16):1454-8
pubmed: 20956790
Front Genet. 2020 Dec 10;11:610798
pubmed: 33362867
Genet Med. 2018 Apr;20(4):464-469
pubmed: 28914269
J Med Genet. 2007 Apr;44(4):281-4
pubmed: 17098887
Hum Mutat. 2020 Feb;41(2):487-501
pubmed: 31692161
Metabolomics. 2021 Jan 12;17(1):10
pubmed: 33438095
Brain. 2009 Feb;132(Pt 2):426-38
pubmed: 19056803
NPJ Genom Med. 2020 Sep 10;5:37
pubmed: 32963807
Front Neurosci. 2020 Feb 28;14:74
pubmed: 32180696
Orphanet J Rare Dis. 2019 Feb 20;14(1):51
pubmed: 30786918
J Hum Genet. 2020 Jan;65(1):11-19
pubmed: 31558760
Lancet Neurol. 2019 Dec;18(12):1136-1146
pubmed: 31377012
Hum Mol Genet. 2015 Dec 15;24(24):6877-85
pubmed: 26385635
J Med Genet. 2012 Jul;49(7):462-72
pubmed: 22717650
J Mol Diagn. 2018 May;20(3):289-297
pubmed: 29462666
JAMA Neurol. 2018 May 1;75(5):591-599
pubmed: 29482223
Cardiovasc Drugs Ther. 2020 Apr;34(2):241-253
pubmed: 32080787
Methods Mol Biol. 2018;1706:381-397
pubmed: 29423810
PLoS Genet. 2012;8(12):e1003074
pubmed: 23236289
Eur J Hum Genet. 2016 Jan;25(1):100-110
pubmed: 27601211
Nat Protoc. 2021 Feb;16(2):1276-1296
pubmed: 33462443
Neurobiol Dis. 2019 Oct;130:104515
pubmed: 31229686
Neurogenetics. 2018 Jan;19(1):1-8
pubmed: 29209898
F1000Res. 2020 May 6;9:
pubmed: 32431803
Front Genet. 2019 Feb 12;10:49
pubmed: 30809243
J Inherit Metab Dis. 2018 May;41(3):435-445
pubmed: 29721916
JAMA Neurol. 2014 Oct;71(10):1237-46
pubmed: 25133958
Am J Hum Genet. 2019 Mar 7;104(3):466-483
pubmed: 30827497
Curr Opin Neurol. 1997 Aug;10(4):313-8
pubmed: 9266155
Cerebellum. 2020 Oct;19(5):629-635
pubmed: 32472476
Neurology. 2012 Nov 13;79(20):2056-60
pubmed: 23115212
Curr Opin Neurol. 2018 Aug;31(4):462-471
pubmed: 29847346
Nat Commun. 2020 Jan 31;11(1):655
pubmed: 32005800
Nat Rev Genet. 2018 May;19(5):253-268
pubmed: 29398702
Nucleic Acids Res. 2013 Jan;41(Database issue):D781-6
pubmed: 23109552
Orphanet J Rare Dis. 2019 Jun 24;14(1):153
pubmed: 31234920
Eur J Hum Genet. 2020 Dec;28(12):1645-1655
pubmed: 32561899
Neurology. 2001 Jul 10;57(1):127-30
pubmed: 11445641
Nat Biotechnol. 2020 Mar;38(3):314-319
pubmed: 31907404
Ann Neurol. 2007 Dec;62(6):579-87
pubmed: 17722119
Hum Mutat. 2015 Oct;36(10):950-6
pubmed: 26173844
Mol Genet Genomics. 2021 Jan;296(1):1-20
pubmed: 32888055
Clin Genet. 2007 Jan;71(1):12-24
pubmed: 17204042
Expert Rev Neurother. 2019 May;19(5):409-415
pubmed: 31037979
N Engl J Med. 2019 Jun 20;380(25):2478-2480
pubmed: 31216405
Science. 1996 Mar 8;271(5254):1423-7
pubmed: 8596916
Orphanet J Rare Dis. 2020 Jul 22;15(1):191
pubmed: 32698834
Curr Opin Neurol. 2020 Feb;33(1):150-160
pubmed: 31789706
Nat Commun. 2019 Oct 21;10(1):4790
pubmed: 31636353
Metabolites. 2020 Aug 27;10(9):
pubmed: 32867165
J Neurol Sci. 2017 Jan 15;372:229-231
pubmed: 28017220
Br J Haematol. 2020 Feb;188(3):367-382
pubmed: 31602633
PLoS One. 2017 Nov 29;12(11):e0187503
pubmed: 29186133
Nat Biotechnol. 2019 Oct;37(10):1155-1162
pubmed: 31406327
Eur J Hum Genet. 2019 Nov;27(11):1731-1737
pubmed: 31189928
Front Mol Biosci. 2020 Nov 02;7:590842
pubmed: 33240932
Nat Genet. 2019 Apr;51(4):649-658
pubmed: 30926972
Arch Neurol. 2007 Oct;64(10):1502-8
pubmed: 17923634
Orphanet J Rare Dis. 2020 Apr 28;15(1):107
pubmed: 32345347
JAMA Neurol. 2014 Nov;71(11):1413-20
pubmed: 25264603
Am J Hum Genet. 2017 May 4;100(5):695-705
pubmed: 28475856
Nat Genet. 2000 Feb;24(2):120-5
pubmed: 10655055
NAR Genom Bioinform. 2020 Jun;2(2):lqaa032
pubmed: 32500119
Nature. 2020 Jan;577(7789):179-189
pubmed: 31915397
Nat Commun. 2019 Jun 28;10(1):2837
pubmed: 31253775
Am J Hum Genet. 2008 Mar;82(3):623-30
pubmed: 18319072
Hum Mol Genet. 2015 Jan 15;24(2):463-70
pubmed: 25205112
Ann Neurol. 2013 Apr;73(4):546-53
pubmed: 23424103
Prenat Diagn. 2019 Feb;39(3):157-164
pubmed: 30673135
Cell. 2006 May 19;125(4):801-14
pubmed: 16713569
Proteomics Clin Appl. 2018 Mar;12(2):
pubmed: 29059504
Am J Hum Genet. 2013 May 2;92(5):767-73
pubmed: 23582646
Mov Disord. 2017 Mar;32(3):332-345
pubmed: 28195350
Clin Genet. 2013 Mar;83(3):257-62
pubmed: 22571692
Brain. 2018 Jan 1;141(1):72-84
pubmed: 29228183
Front Mol Neurosci. 2019 Jun 27;12:159
pubmed: 31316347
Genet Med. 2018 Sep;20(9):942-949
pubmed: 29388948
Eur J Hum Genet. 2015 Oct;23(10):1427-30
pubmed: 25585697
Brain. 2015 Aug;138(Pt 8):2191-205
pubmed: 26026163
Nat Rev Mol Cell Biol. 2020 Oct;21(10):571-584
pubmed: 32636524
Nat Genet. 1997 Sep;17(1):65-70
pubmed: 9288099
Nat Biotechnol. 2016 Aug 9;34(8):828-837
pubmed: 27504778
J Med Genet. 2011 Feb;48(2):141-4
pubmed: 20972249
Am J Hum Genet. 2011 Jun 10;88(6):788-795
pubmed: 21620353
Genomics. 1993 Jun;16(3):572-9
pubmed: 8325628
Nature. 2020 Dec;588(7836):135-140
pubmed: 33177712
Genome Res. 2011 May;21(5):658-64
pubmed: 21487076
Am J Physiol. 1999 Apr;276(4):C788-95
pubmed: 10199808
Bioinform Biol Insights. 2020 Jan 31;14:1177932219899051
pubmed: 32076369
OMICS. 2019 Jun;23(6):300-307
pubmed: 31120384
Mov Disord. 2021 Feb;36(2):283-297
pubmed: 33022077
Nat Genet. 1995 Feb;9(2):141-5
pubmed: 7719340
J Allergy Clin Immunol. 2021 Feb;147(2):723-726
pubmed: 32888943
Nucleic Acids Res. 2016 Jan 4;44(D1):D463-70
pubmed: 26467476
NPJ Genom Med. 2018 Jul 9;3:16
pubmed: 30002876
Lancet. 2004 Oct 16-22;364(9443):1435-7
pubmed: 15488219
Brain. 2014 Sep;137(Pt 9):2444-55
pubmed: 24972706
Nat Biotechnol. 2018 Apr;36(4):338-345
pubmed: 29431738
Hum Mutat. 2015 Oct;36(10):928-30
pubmed: 26220891
Proc Natl Acad Sci U S A. 2012 Sep 4;109(36):14514-9
pubmed: 22912398
iScience. 2020 May 22;23(5):101123
pubmed: 32422592
Curr Neurol Neurosci Rep. 2019 Feb 28;19(4):18
pubmed: 30820684
Eur J Hum Genet. 2020 Feb;28(2):165-173
pubmed: 31527858
Neurology. 2005 Aug 23;65(4):529-34
pubmed: 16116111
Proc Natl Acad Sci U S A. 2019 Sep 10;116(37):18429-18434
pubmed: 31455732
Arch Dis Child. 2021 Jan;106(1):31-37
pubmed: 32819910
Neurol Genet. 2018 Jan 19;4(1):e209
pubmed: 29379881
Curr Opin Plant Biol. 2015 Aug;26:26-31
pubmed: 26051215
Genes (Basel). 2019 Apr 04;10(4):
pubmed: 30987386
PLoS Genet. 2018 Aug 1;14(8):e1007550
pubmed: 30067756
Lancet Neurol. 2019 May;18(5):492-503
pubmed: 30981321
Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):505-30
pubmed: 26008818
Cell. 1997 Feb 7;88(3):385-92
pubmed: 9039265
Neuroepidemiology. 2014;42(3):174-83
pubmed: 24603320
Eur J Med Genet. 2020 Jul;63(7):103927
pubmed: 32298796
Nat Genet. 2006 Feb;38(2):184-90
pubmed: 16429157
Am J Hum Genet. 2000 May;66(5):1531-9
pubmed: 10762541
Am J Hum Genet. 2020 Feb 6;106(2):143-152
pubmed: 32032513
Curr Opin Neurobiol. 2018 Aug;51:139-146
pubmed: 29753924
J Neurol Sci. 1997 Feb 12;145(2):205-11
pubmed: 9094050
Mol Psychiatry. 2018 May;23(5):1375-1384
pubmed: 28289279
Am J Hum Genet. 2017 Jul 6;101(1):87-103
pubmed: 28686858
J Neurosci. 2013 Jul 31;33(31):12656-69
pubmed: 23904602
Genome Biol. 2019 Nov 14;20(1):239
pubmed: 31727106
Nat Genet. 1994 Jan;6(1):9-13
pubmed: 8136840
J Inherit Metab Dis. 2018 May;41(3):447-456
pubmed: 29423831
Am J Pathol. 2013 May;182(5):1462-73
pubmed: 23608223
Clin Chem. 2020 Jan 1;66(1):77-88
pubmed: 31811004
Clin Genet. 2018 Mar;93(3):508-519
pubmed: 29206278
Nat Rev Genet. 2019 Aug;20(8):467-484
pubmed: 31068683
Am J Hum Genet. 1990 Mar;46(3):428-33
pubmed: 2137962
Sci Rep. 2020 Jun 10;10(1):9382
pubmed: 32523032
Nat Commun. 2017 Jun 12;8:15824
pubmed: 28604674
Eur J Hum Genet. 2017 Nov;25(11):1217-1228
pubmed: 28832565
Ann Hum Genet. 2009 May;73(Pt 3):382-7
pubmed: 19344448
Nat Genet. 1999 Apr;21(4):379-84
pubmed: 10192387
F1000Res. 2018 Jun 13;7:
pubmed: 29946432