Neuroradiological Findings in the Spinocerebellar Ataxias.
Spinocerebellar ataxia
ataxia
brain imaging
cerebellar diseases
gait ataxia
magnetic resonance imaging
Journal
Tremor and other hyperkinetic movements (New York, N.Y.)
ISSN: 2160-8288
Titre abrégé: Tremor Other Hyperkinet Mov (N Y)
Pays: England
ID NLM: 101569493
Informations de publication
Date de publication:
2019
2019
Historique:
received:
16
05
2019
accepted:
02
09
2019
entrez:
22
10
2019
pubmed:
22
10
2019
medline:
27
3
2020
Statut:
epublish
Résumé
The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs - clinical, laboratorial, and neuroradiological (NR) - can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs. We conducted a literature search on this topic. The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; "hot cross bun sign", and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy. The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.
Sections du résumé
Background
The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia. Classified according to gene discovery, specific features of the SCAs - clinical, laboratorial, and neuroradiological (NR) - can facilitate establishing the diagnosis. The purpose of this study was to review the particular NR abnormalities in the main SCAs.
Methods
We conducted a literature search on this topic.
Results
The main NR characteristics of brain imaging (magnetic resonance imaging or computerized tomography) in SCAs were: (1) pure cerebellar atrophy; (2) cerebellar atrophy with other findings (e.g., pontine, olivopontocerebellar, spinal, cortical, or subcortical atrophy; "hot cross bun sign", and demyelinating lesions); (3) selective cerebellar atrophy; (4) no cerebellar atrophy.
Discussion
The main NR abnormalities in the commonest SCAs, are not pathognomonic of any specific genotype, but can be helpful in limiting the diagnostic options. We are progressing to a better understanding of the SCAs, not only genetically, but also pathologically; NR is helpful in the challenge of diagnosing the specific genotype of SCA.
Identifiants
pubmed: 31632837
doi: 10.7916/tohm.v0.682
pii: tre-09-682
pmc: PMC6765228
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2019 Meira et al.
Déclaration de conflit d'intérêts
Funding: None. Conflicts of Interest: The authors report no conflicts of interest. Ethics Statement: Not applicable for this category of article.
Références
Cerebellum. 2015 Apr;14(2):128-32
pubmed: 25370748
Arq Neuropsiquiatr. 2015 Jan;73(1):18-21
pubmed: 25608122
AJNR Am J Neuroradiol. 2011 May;32(5):890-7
pubmed: 21372168
Parkinsonism Relat Disord. 2011 Aug;17(7):521-7
pubmed: 21600833
Cerebellum. 2008;7(2):115-24
pubmed: 18418684
Neuroreport. 2014 Oct 22;25(15):1198-202
pubmed: 25144395
Cerebellum. 2017 Dec;16(5-6):938-944
pubmed: 28589261
Arq Neuropsiquiatr. 2012 Aug;70(8):630-2
pubmed: 22899036
Neuroimage Clin. 2018 Jun 14;19:858-867
pubmed: 29922574
Brain Imaging Behav. 2016 Mar;10(1):252-7
pubmed: 25917872
Ann Neurol. 2001 Aug;50(2):234-9
pubmed: 11506407
Nat Rev Neurol. 2018 Oct;14(10):590-605
pubmed: 30131520
Ann Neurol. 2018 Sep;84(3):401-408
pubmed: 30014526
Arq Neuropsiquiatr. 1997 Sep;55(3B):666-76
pubmed: 9629425
Cerebellum. 2012 Mar;11(1):155-66
pubmed: 21701895
Arq Neuropsiquiatr. 2011;69(2B):292-6
pubmed: 21625753
J Neurol. 2018 Feb;265(2):322-329
pubmed: 29236168
Neuroimage. 2011 Mar 1;55(1):1-7
pubmed: 21147232
AJNR Am J Neuroradiol. 2016 Aug;37(8):1405-12
pubmed: 27173364
Neurology. 1978 Jul;28(7):703-9
pubmed: 566869
Neuropsychologia. 2017 Dec;107:25-30
pubmed: 29100951
Curr Opin Neurol. 2015 Aug;28(4):413-22
pubmed: 26132530
Arq Neuropsiquiatr. 2007 Dec;65(4A):965-8
pubmed: 18094855
J Neurol Neurosurg Psychiatry. 2004 Oct;75(10):1452-6
pubmed: 15377695
Brain. 2004 May;127(Pt 5):1172-81
pubmed: 14998916
Arch Neurol. 2005 Aug;62(8):1280-5
pubmed: 16087769
J Neurol. 2018 Dec;265(12):2949-2959
pubmed: 30324307
J Geriatr Psychiatry Neurol. 2007 Mar;20(1):3-21
pubmed: 17341766
Handb Clin Neurol. 2012;103:437-49
pubmed: 21827905
Neuroimage Clin. 2016 Nov 10;13:97-105
pubmed: 27942452
Ann Clin Transl Neurol. 2018 Jan 07;5(2):128-137
pubmed: 29468174
AJNR Am J Neuroradiol. 2007 Nov-Dec;28(10):1996-2000
pubmed: 17998418
Dement Neuropsychol. 2016 Oct-Dec;10(4):310-314
pubmed: 29213474
J Neurol. 2008 Aug;255(8):1244-9
pubmed: 18506570
Mov Disord. 2001 May;16(3):535
pubmed: 11391754
Cerebellum. 2017 Aug;16(4):792-796
pubmed: 28386793
Lancet Neurol. 2004 May;3(5):291-304
pubmed: 15099544
Brain. 2017 Nov 1;140(11):2860-2878
pubmed: 29053796
Ann Neurol. 1998 Feb;43(2):244-52
pubmed: 9485066
PLoS One. 2012;7(10):e47479
pubmed: 23094053
Arq Neuropsiquiatr. 2014 Sep;72(9):659-62
pubmed: 25252228
Brain. 1998 Sep;121 ( Pt 9):1687-93
pubmed: 9762957
J Neuroimaging. 2012 Jul;22(3):285-91
pubmed: 21699609
F1000Res. 2018 Nov 12;7:
pubmed: 30473770
AJNR Am J Neuroradiol. 2006 Aug;27(7):1463-6
pubmed: 16908559
J Neurol. 2018 Mar;265(3):597-606
pubmed: 29356974
Neurosci Lett. 2006 Nov 20;408(3):230-5
pubmed: 17005321
Arq Neuropsiquiatr. 2013 Oct;71(10):824
pubmed: 24212526
Cerebellum. 2008;7(2):204-14
pubmed: 18418677
Mov Disord. 2015 Apr 15;30(5):662-70
pubmed: 25773989
Cerebellum. 2016 Feb;15(1):21-25
pubmed: 26521073
Mov Disord. 2017 Feb;32(2):264-273
pubmed: 27862279
Orphanet J Rare Dis. 2017 Jun 28;12(1):121
pubmed: 28659154
J Neurol. 1999 May;246(5):383-8
pubmed: 10399871
Cerebellum. 2008;7(2):101-5
pubmed: 18418679
Neurology. 2017 Sep 5;89(10):1043-1049
pubmed: 28794257
J Neurol Sci. 1995 Jun;130(2):146-53
pubmed: 8586978
Intern Med. 2015;54(7):859-60
pubmed: 25832958
Parkinsonism Relat Disord. 2016 Jul;28:80-6
pubmed: 27143115
Nat Rev Neurosci. 2017 Oct;18(10):613-626
pubmed: 28855740
Brain. 2015 May;138(Pt 5):1182-97
pubmed: 25818870
J Neurol. 2014 Feb;261(2):291-9
pubmed: 24272589