Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study.
CCAS
cerebellum
cognition
functional connectivity
social skills
spastic paraplegia type 7
voxel-based morphometry
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2020
2020
Historique:
received:
11
11
2019
accepted:
23
01
2020
entrez:
13
3
2020
pubmed:
13
3
2020
medline:
13
3
2020
Statut:
epublish
Résumé
Spastic paraplegia type 7 (SPG7), which represents one of the most common forms of autosomal recessive spastic paraplegia (MIM#607259), often manifests with a complicated phenotype, characterized by progressive spastic ataxia with evidence of cerebellar atrophy on brain MRI. Recent studies have documented the presence of peculiar dentate nucleus hyperintensities on T2-weighted images and frontal executive dysfunction in neuropsychological tests in SPG7 patients. Therefore, we decided to assess whether any particular MRI pattern might be specifically associated with SPG7 mutations and possibly correlated with patients' cognitive profiles. For this purpose, we evaluated six SPG7 patients, studying the cerebello-cortical network by MRI voxel-based morphometry and functional connectivity techniques, compared to 30 healthy control subjects. In parallel, we investigated the cognitive and social functioning of the SPG7 patients. Our results document specific cognitive alterations in language, verbal memory, and executive function in addition to an impairment of social task and emotional functions. The MRI scans showed a diffuse symmetric reduction in the cerebellar gray matter of the right lobule V, right Crus I, and bilateral lobule VI, together with a cerebral gray matter reduction in the lingual gyrus, precuneus, thalamus, and superior frontal gyrus. The evidence of an over-connectivity pattern between both the right and left cerebellar dentate nuclei and specific cerebral regions (the lateral occipital cortex, precuneus, left supramarginal gyrus, and left superior parietal lobule) confirms the presence of cerebello-cortical dysregulation in different networks involved in cognition and social functioning in SPG7 patients.
Identifiants
pubmed: 32161564
doi: 10.3389/fneur.2020.00082
pmc: PMC7053515
doi:
Types de publication
Journal Article
Langues
eng
Pagination
82Informations de copyright
Copyright © 2020 Lupo, Olivito, Clausi, Siciliano, Riso, Bozzali, Santorelli, Silvestri and Leggio.
Références
Neuroscience. 2017 Dec 16;366:44-53
pubmed: 29031602
Cortex. 2018 Nov;108:35-49
pubmed: 30121445
Neurosci Lett. 2019 Jan 1;688:62-75
pubmed: 29997061
J Neurophysiol. 2011 Nov;106(5):2322-45
pubmed: 21795627
Neuroimage. 2005 Oct 15;28(1):39-48
pubmed: 16023375
Behav Neurol. 2010;23(1-2):17-29
pubmed: 20714058
J Neurol. 1998 Oct;245(10):647-52
pubmed: 9776463
Brain. 2012 Oct;135(Pt 10):2980-93
pubmed: 23065789
Ital J Neurol Sci. 1996 Aug;17(4):305-9
pubmed: 8915764
Cell. 1998 Jun 12;93(6):973-83
pubmed: 9635427
Cortex. 2010 Jul-Aug;46(7):831-44
pubmed: 20152963
Eur J Neurol. 2020 Mar;27(3):498-505
pubmed: 31571321
Brain Res Brain Res Rev. 2000 Mar;31(2-3):236-50
pubmed: 10719151
Cerebellum. 2015 Dec;14(6):663-9
pubmed: 25784354
J Psychiatry Neurosci. 2011 Jan;36(1):32-40
pubmed: 20964953
Philos Trans R Soc Lond B Biol Sci. 2014 Oct 5;369(1653):
pubmed: 25180301
Neurol Sci. 2002 Mar;22(6):443-7
pubmed: 11976975
Brain. 1998 Apr;121 ( Pt 4):561-79
pubmed: 9577385
J Neurol. 2008 Aug;255(8):1142-4
pubmed: 18563470
Trends Cogn Sci. 1998 Sep 1;2(9):348-54
pubmed: 21227231
Brain. 2000 Jun;123 ( Pt 6):1122-41
pubmed: 10825352
J Neurol Sci. 2002 Sep 15;201(1-2):53-7
pubmed: 12163194
Trends Cogn Sci. 2017 May;21(5):313-332
pubmed: 28385461
Brain. 2001 Apr;124(Pt 4):731-8
pubmed: 11287373
Ital J Neurol Sci. 1987 Dec;Suppl 8:1-120
pubmed: 3330072
Neuropsychol Rev. 2010 Sep;20(3):236-60
pubmed: 20821056
Brain. 2004 May;127(Pt 5):973-80
pubmed: 14985266
Neuropsychologia. 2019 Sep;132:107143
pubmed: 31302109
Neuroimage. 2009 May 15;46(1):39-46
pubmed: 19457380
Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):676-82
pubmed: 11209064
Brain. 2011 Dec;134(Pt 12):3672-86
pubmed: 22036960
J Affect Disord. 2019 Feb 15;245:386-393
pubmed: 30423466
Neurology. 2006 Mar 14;66(5):654-9
pubmed: 16534102
Neurol Genet. 2018 Oct 24;4(6):e279
pubmed: 30533525
J Neurol Sci. 2014 Dec 15;347(1-2):50-8
pubmed: 25263602
Neuroimage Clin. 2017 Mar 25;14:719-725
pubmed: 28393013
Lancet Neurol. 2003 Feb;2(2):79-88
pubmed: 12849264
Neurology. 2008 Nov 4;71(19):1500-5
pubmed: 18799786
J Autism Dev Disord. 1994 Apr;24(2):129-54
pubmed: 8040158
Eur Neurol. 2009;61(5):257-68
pubmed: 19295212
J Neurol. 2018 Mar;265(3):597-606
pubmed: 29356974
Arch Neurol. 1991 Nov;48(11):1178-87
pubmed: 1953406
J Child Psychol Psychiatry. 2001 Feb;42(2):241-51
pubmed: 11280420
Neurocase. 2014;20(1):18-26
pubmed: 23020242
J Clin Exp Neuropsychol. 1994 Dec;16(6):840-50
pubmed: 7890819
Annu Rev Psychol. 2007;58:345-72
pubmed: 16953797
Biol Psychiatry. 2015 Nov 1;78(9):625-34
pubmed: 25959247
Cerebellum. 2017 Apr;16(2):283-292
pubmed: 27250977
Ital J Neurol Sci. 1987 Dec;8(6):539-48
pubmed: 3429213
Proc Natl Acad Sci U S A. 2003 Jan 7;100(1):253-8
pubmed: 12506194
Proc Natl Acad Sci U S A. 2004 Mar 30;101(13):4637-42
pubmed: 15070770
Brain. 2005 May;128(Pt 5):1082-92
pubmed: 15788543
Cerebellum. 2017 Apr;16(2):595-598
pubmed: 27557734
J Neurol Sci. 1997 Feb 12;145(2):205-11
pubmed: 9094050
J Neurosci. 2009 Jul 1;29(26):8586-94
pubmed: 19571149
Front Cell Neurosci. 2019 Jan 08;12:510
pubmed: 30670949
Neuroimage. 2014 May 1;91:412-9
pubmed: 24412399
NMR Biomed. 1997 Jun-Aug;10(4-5):165-70
pubmed: 9430343
Int Rev Neurobiol. 1997;41:31-60
pubmed: 9378595
J Int Neuropsychol Soc. 2005 Jul;11(4):408-15
pubmed: 16209421
Brain. 2018 Jan 1;141(1):248-270
pubmed: 29206893