Genetic Workup for Charcot-Marie-Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years.
Charcot–Marie–Tooth (CMT) disease
genetic
neuropathy
phenotype
Journal
Life (Basel, Switzerland)
ISSN: 2075-1729
Titre abrégé: Life (Basel)
Pays: Switzerland
ID NLM: 101580444
Informations de publication
Date de publication:
10 Mar 2022
10 Mar 2022
Historique:
received:
31
01
2022
revised:
04
03
2022
accepted:
07
03
2022
entrez:
25
3
2022
pubmed:
26
3
2022
medline:
26
3
2022
Statut:
epublish
Résumé
Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurological disorder. This study includes patients affected by CMT during regular follow-ups at the CMT clinic in Genova, a neuromuscular university center in the northwest of Italy, with the aim of describing the genetic distribution of CMT subtypes in our cohort and reporting a peculiar phenotype. Since 2004, 585 patients (447 index cases) have been evaluated at our center, 64.9% of whom have a demyelinating neuropathy and 35.1% of whom have an axonal neuropathy. A genetic diagnosis was achieved in 66% of all patients, with the following distribution: CMT1A (48%), HNPP (14%), CMT1X (13%), CMT2A (5%), and P0-related neuropathies (7%), accounting all together for 87% of all the molecularly defined neuropathies. Interestingly, we observe a peculiar phenotype with initial exclusive lower limb involvement as well as lower limb involvement that is maintained over time, which we have defined as a "strictly length-dependent" phenotype. Most patients with this clinical presentation shared variants in either
Identifiants
pubmed: 35330153
pii: life12030402
doi: 10.3390/life12030402
pmc: PMC8948690
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Ministero della Salute
ID : Ricerca Corrente
Références
Mol Genet Genomic Med. 2014 Nov;2(6):522-9
pubmed: 25614874
Orphanet J Rare Dis. 2016 Aug 22;11(1):118
pubmed: 27549087
Neuromolecular Med. 2006;8(1-2):123-30
pubmed: 16775371
Lancet Neurol. 2009 Jul;8(7):654-67
pubmed: 19539237
J Multidiscip Healthc. 2016 Jan 19;9:7-19
pubmed: 26855581
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
J Rehabil Med. 2009 Sep;41(9):746-50
pubmed: 19774309
Neurol Sci. 2017 Jun;38(6):1019-1025
pubmed: 28286897
Neurology. 2017 Mar 28;88(13):1226-1234
pubmed: 28251916
Hum Mutat. 2017 May;38(5):556-568
pubmed: 28144995
J Neurochem. 2017 Dec;143(5):507-522
pubmed: 28902413
Neuromuscul Disord. 2018 Jan;28(1):38-43
pubmed: 29174527
Neuroepidemiology. 2016;46(3):157-65
pubmed: 26849231
J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):195-202
pubmed: 30257968
Neurology. 2020 Jan 7;94(1):e51-e61
pubmed: 31827005
Nat Rev Neurol. 2019 Nov;15(11):644-656
pubmed: 31582811
Brain. 2015 Nov;138(Pt 11):3180-92
pubmed: 26310628
Front Genet. 2021 Jul 19;12:682050
pubmed: 34354735
J Mol Diagn. 2016 Mar;18(2):225-34
pubmed: 26752306
Neurology. 2005 Apr 12;64(7):1209-14
pubmed: 15824348
Neurology. 2008 Nov 18;71(21):1660-8
pubmed: 18832141
J Med Genet. 2021 Apr;58(4):284-288
pubmed: 32376792
Neuromuscul Disord. 2013 Aug;23(8):647-51
pubmed: 23743332
J Peripher Nerv Syst. 2011 Sep;16(3):191-8
pubmed: 22003934
Mol Cells. 2016 May 31;39(5):382-8
pubmed: 27025386
Mol Diagn Ther. 2020 Dec;24(6):641-652
pubmed: 32997275
Muscle Nerve. 2021 Oct;64(4):454-461
pubmed: 34232518
Neurol Sci. 2020 May;41(5):1239-1243
pubmed: 31902012
BMC Med Genet. 2015 Sep 21;16:84
pubmed: 26392352
Curr Opin Neurol. 2016 Oct;29(5):537-48
pubmed: 27584852
Nat Commun. 2018 Oct 2;9(1):4038
pubmed: 30279509
Pract Neurol. 2022 Feb;22(1):14-18
pubmed: 34389644
Clin Genet. 2018 Feb;93(2):301-309
pubmed: 28708278
J Peripher Nerv Syst. 2014 Dec;19(4):292-8
pubmed: 25429913
Mol Genet Genomic Med. 2015 Mar;3(2):143-54
pubmed: 25802885
Neurogenetics. 2020 Apr;21(2):79-86
pubmed: 31832804
Neurology. 2013 Oct 29;81(18):1617-25
pubmed: 24078732
Ann Neurol. 2011 Jan;69(1):22-33
pubmed: 21280073
Biomed Res Int. 2014;2014:210401
pubmed: 25025039
J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238
pubmed: 32943585
Curr Treat Options Neurol. 2005 Jan;7(1):23-31
pubmed: 15610704
J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10
pubmed: 22577229
Eur J Med Genet. 2019 Jan;62(1):1-8
pubmed: 29653220
J Peripher Nerv Syst. 2019 Dec;24(4):324-329
pubmed: 31701603
Hum Mutat. 2012 Nov;33(11):1610-5
pubmed: 22730194
J Hum Genet. 2008;53(6):529-533
pubmed: 18379723
Eur J Neurol. 2020 Jul;27(7):1319-1326
pubmed: 32298515
J Neurol. 2017 Aug;264(8):1655-1677
pubmed: 28364294
Semin Neurol. 2008 Apr;28(2):185-94
pubmed: 18351520
J Neurol. 2019 Nov;266(11):2629-2645
pubmed: 31278453
BMJ Open. 2018 Oct 28;8(10):e021632
pubmed: 30373780
J Peripher Nerv Syst. 2018 Dec;23(4):216-226
pubmed: 29896895
J Neuromuscul Dis. 2019;6(2):241-258
pubmed: 31127727
J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8
pubmed: 25430934
Nat Rev Neurol. 2013 Oct;9(10):562-71
pubmed: 24018473