Incomplete hippocampal inversion in patients with mutations in genes involved in sonic hedgehog signaling.
Genetic mutation
Hippocampal infolding angle
Hippocampal inversion
Hypothalamic hamartoma
Sonic hedgehog
Journal
Heliyon
ISSN: 2405-8440
Titre abrégé: Heliyon
Pays: England
ID NLM: 101672560
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
05
10
2022
revised:
01
03
2023
accepted:
15
03
2023
medline:
5
4
2023
entrez:
4
4
2023
pubmed:
5
4
2023
Statut:
epublish
Résumé
Sonic hedgehog (Shh) signaling pathways are known to play an important role in the morphological development of the hippocampus in vivo, but their actual roles in humans have not been clarified. Hypothalamic hamartoma (HH) is known to be associated with germline or somatic gene mutations of Shh signaling. We hypothesized that patients with HH and mutations of Shh-related genes also show hippocampal maldevelopment and an abnormal hippocampal infolding angle (HIA). We analyzed 45 patients (age: 1-37 years) with HH who underwent stereotactic radiofrequency thermocoagulation and found Shh-related gene mutations in 20 patients. In addition, 44 pediatric patients without HH (age: 2-25 years) who underwent magnetic resonance imaging (MRI) examinations under the same conditions during the same period were included in this study as a control group. HIA evaluated on MRI was compared between patients with gene mutations and the control group. The median HIA at the cerebral peduncle slice in patients with the gene mutation was 74.36° on the left and 76.11° on the right, and these values were significantly smaller than the corresponding values in the control group (80.46° and 80.56°, respectively, p < 0.01). Thus, mutations of Shh-related genes were correlated to incomplete hippocampal inversion. The HIA, particularly at the cerebral peduncle slice, is a potential indicator of abnormalities of the Shh-signaling pathway.
Identifiants
pubmed: 37012904
doi: 10.1016/j.heliyon.2023.e14712
pii: S2405-8440(23)01919-9
pmc: PMC10066535
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e14712Informations de copyright
© 2023 The Authors.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Front Neurol. 2021 Feb 22;12:613967
pubmed: 33692740
Proc Natl Acad Sci U S A. 2008 Sep 2;105(35):13127-32
pubmed: 18728187
J Neuropathol Exp Neurol. 2008 Aug;67(8):750-62
pubmed: 18648327
Neuroradiology. 2000 May;42(5):339-45
pubmed: 10872153
Neurology. 2019 Jul 16;93(3):e237-e251
pubmed: 31197031
Epilepsy Res. 2015 Feb;110:39-48
pubmed: 25616454
J Neurosci. 2017 Dec 6;37(49):11993-12005
pubmed: 29118110
Arch Gen Psychiatry. 2010 Mar;67(3):296-303
pubmed: 20194830
AJR Am J Roentgenol. 2015 Nov;205(5):1068-74
pubmed: 26496555
BMJ Case Rep. 2015 May 22;2015:
pubmed: 26002775
Neurol Genet. 2020 Dec 08;7(1):e540
pubmed: 33542949
Epilepsy Res. 2021 Sep;175:106692
pubmed: 34175792
Sci Transl Med. 2013 Sep 4;5(201):201ra120
pubmed: 24005160
Neurochem Res. 2012 Feb;37(2):394-400
pubmed: 21984201
AJNR Am J Neuroradiol. 2011 Sep;32(8):1459-63
pubmed: 21680654
Nat Neurosci. 2008 Mar;11(3):277-84
pubmed: 18297065
Behav Brain Res. 2019 Jun 3;365:150-156
pubmed: 30851317
Neuroreport. 2003 Jul 18;14(10):1405-9
pubmed: 12876483
Nat Rev Neurosci. 2006 Oct;7(10):772-83
pubmed: 16988653
Front Mol Neurosci. 2018 May 23;11:168
pubmed: 29875630
Eur Radiol. 2009 Oct;19(10):2544-50
pubmed: 19440714
Hum Exp Toxicol. 2021 Nov;40(11):1880-1898
pubmed: 33906504
Nat Rev Neurol. 2014 Jan;10(1):27-36
pubmed: 24296655
AJNR Am J Neuroradiol. 2006 Nov-Dec;27(10):2093-7
pubmed: 17110674
Nat Rev Neurosci. 2002 Jan;3(1):24-33
pubmed: 11823802
AJNR Am J Neuroradiol. 2012 Mar;33(3):513-8
pubmed: 22116115
Nat Genet. 2011 Jun;43(6):601-6
pubmed: 21552264
Curr Opin Neurol. 2011 Apr;24(2):98-105
pubmed: 21386674
Nat Genet. 2016 Jun;48(6):648-56
pubmed: 27158779
Nat Neurosci. 2009 Oct;12(10):1248-56
pubmed: 19734891
AJNR Am J Neuroradiol. 2009 Sep;30(8):1571-3
pubmed: 19541778
Genome Biol. 2015 Dec 29;16:293
pubmed: 26714646
Biol Psychiatry. 2016 May 1;79(9):727-734
pubmed: 25866294
Pediatr Res. 2005 Aug;58(2):302-8
pubmed: 16006434
Diagn Interv Radiol. 2017 Jul-Aug;23(4):326-330
pubmed: 28509667
Front Neuroanat. 2015 Jan 06;8:156
pubmed: 25610374
Acta Neuropathol Commun. 2021 Aug 16;9(1):137
pubmed: 34399854
Epilepsia. 2017 Sep;58(9):1556-1565
pubmed: 28703275
Ann Clin Transl Neurol. 2016 Mar 24;3(5):356-65
pubmed: 27231705
Diagn Interv Radiol. 2010 Mar;16(1):3-6
pubmed: 20108204
Front Cell Neurosci. 2018 Sep 06;12:305
pubmed: 30237763
Cell Rep. 2019 Dec 10;29(11):3356-3366.e3
pubmed: 31825820
Brain Sci. 2021 Apr 05;11(4):
pubmed: 33916495