Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
aheadofprint:
13
01
2022
pubmed:
14
1
2022
medline:
22
4
2022
entrez:
13
1
2022
Statut:
ppublish
Résumé
Heterozygous Clinical records and available MRI and CT scans of three patients from two unrelated families were retrospectively reviewed. The patients presented at 9 to 14 months of age with developmental delay, seizures, or both. The disease course was characterized by cognitive impairment and variably recurrent strokes, migraine attacks, and seizures. MRI findings pointed at a small vessel disease, with extensive cerebral white matter abnormalities, atrophy, lacunes in the basal ganglia, microbleeds, and microcalcifications. The anterior temporal lobes were spared. Bi-allelic cysteine-sparing This study indicates that bi-allelic loss-of-function
Identifiants
pubmed: 35026854
doi: 10.1055/a-1739-2722
pmc: PMC9270846
mid: NIHMS1803815
doi:
Substances chimiques
NOTCH3 protein, human
0
Receptor, Notch3
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
115-121Subventions
Organisme : NINDS NIH HHS
ID : U01 NS106845
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS115052
Pays : United States
Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None declared.
Références
Neurology. 2016 Oct 25;87(17):1777-1786
pubmed: 27664989
Genet Med. 2015 Nov;17(11):843-53
pubmed: 25719457
Eur J Neurol. 2020 Aug;27(8):1588-1595
pubmed: 32348626
Neuropediatrics. 2004 Feb;35(1):10-9
pubmed: 15002047
J Neurol. 2021 Mar;268(3):810-816
pubmed: 32980981
Arterioscler Thromb Vasc Biol. 2008 Dec;28(12):2216-24
pubmed: 18818417
Lancet Neurol. 2010 Jul;9(7):689-701
pubmed: 20610345
Acta Neuropathol. 2017 Sep;134(3):351-382
pubmed: 28638987
Radiology. 1999 Oct;213(1):121-33
pubmed: 10540652
EMBO Mol Med. 2015 Apr 13;7(6):848-58
pubmed: 25870235
Brain Dev. 2000 Sep;22(6):390-3
pubmed: 11042423
Neurol Genet. 2021 Mar 09;7(2):e564
pubmed: 33709034
Am J Pathol. 2021 Nov;191(11):1856-1870
pubmed: 33895122
N Engl J Med. 2014 Jul 31;371(5):478-80
pubmed: 25075847
Am J Med Genet A. 2015 Feb;167A(2):296-312
pubmed: 25604658
Nat Genet. 2016 Oct;48(10):1185-92
pubmed: 27571260
Stroke. 2010 Aug;41(8):e513-8
pubmed: 20558831
Hypertension. 2017 Jan;69(1):60-70
pubmed: 27821617
Pharmacol Ther. 2009 Apr;122(1):65-77
pubmed: 19318041
Arterioscler Thromb Vasc Biol. 2015 Feb;35(2):409-20
pubmed: 25477343
Brain Pathol. 2014 Sep;24(5):525-44
pubmed: 25323668
Biochem J. 2005 Nov 15;392(Pt 1):13-20
pubmed: 16011479
Genes Dev. 2004 Nov 15;18(22):2730-5
pubmed: 15545631
Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12
pubmed: 26095523