Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.
作者信息
Boot Erik, Marras Connie, Bassett Anne S
机构信息
The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.
Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.
出版信息
Eur J Hum Genet. 2022 Dec;30(12):1314-1317. doi: 10.1038/s41431-022-01152-4. Epub 2022 Aug 25.
Abstract
摘要
相似文献
1
Spectrum of movement disorders and motor abnormalities in adults with a 22q11.2 microdeletion: Comment on the literature and retrospective study of 92 adults.
Eur J Hum Genet. 2022 Dec;30(12):1314-1317. doi: 10.1038/s41431-022-01152-4. Epub 2022 Aug 25.
2
[Microdeletion of 22q11, DiGeorge and velocardiofacial syndrome].
Ugeskr Laeger. 2000 Jul 31;162(31):4169-70.
3
[Molecular basis of microdeletion 22q11].
Arch Pediatr. 2002 May;9 Suppl 2:97s-99s. doi: 10.1016/s0929-693x(01)00909-5.
4
Deletion 22q11: spectrum of associated disorders.
Semin Pediatr Neurol. 2007 Sep;14(3):136-9. doi: 10.1016/j.spen.2007.07.005.
5
[Prenatal diagnosis of 22q11 microdeletion syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):192-195. doi: 10.3760/cma.j.issn.1003-9406.2017.02.008.
6
Myoclonic movement disorder associated with microdeletion of chromosome 22q11.
J Neurol Neurosurg Psychiatry. 2002 Nov;73(5):600-1. doi: 10.1136/jnnp.73.5.600.
7
Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.
J Med Genet. 2000 Jun;37(6):452-4. doi: 10.1136/jmg.37.6.452.
8
[Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].
Neuropsychiatr. 2016 Dec;30(4):223-226. doi: 10.1007/s40211-016-0203-0. Epub 2016 Nov 7.
9
Is the autosomal dominant Optiz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?
Am J Med Genet. 1996 Aug 23;64(3):523-4. doi: 10.1002/ajmg.1320640303.
10
[Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
Rev Med Chil. 2001 May;129(5):515-21.
引用本文的文献
1
Dissecting the Phenotypic Spectrum and Complexity of Movement Disorders in 22q11.2 Deletion Syndrome.
Eur J Neurol. 2025 Jun;32(6):e70256. doi: 10.1111/ene.70256.
2
Genetic abnormalities in catatonia: a systematic review.
Psychol Med. 2025 Jun 13;55:e164. doi: 10.1017/S0033291725100536.
3
Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study.
Mov Disord Clin Pract. 2025 Jun;12(6):817-822. doi: 10.1002/mdc3.14354. Epub 2025 Feb 7.
4
Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion: Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2.
Can J Psychiatry. 2025 Mar;70(3):160-170. doi: 10.1177/07067437241293983. Epub 2024 Dec 6.
5
Rare genetic disorders and the heightened importance of baseline motor examinations in children and adolescents experiencing a first episode of psychosis.
Eur Child Adolesc Psychiatry. 2025 Feb;34(2):811-813. doi: 10.1007/s00787-024-02449-z. Epub 2024 Apr 26.
本文引用的文献
1
Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.
CMAJ Open. 2021 Aug 17;9(3):E802-E809. doi: 10.9778/cmajo.20200294. Print 2021 Jul-Sep.
2
Age-Related Parkinsonian Signs in Microdeletion 22q11.2.
Mov Disord. 2020 Jul;35(7):1239-1245. doi: 10.1002/mds.28080. Epub 2020 May 9.
3
Neurobiological perspective of 22q11.2 deletion syndrome.
Lancet Psychiatry. 2019 Nov;6(11):951-960. doi: 10.1016/S2215-0366(19)30076-8. Epub 2019 Aug 5.
4
22q11.2 Deletion Syndrome-Associated Parkinson's Disease.
Mov Disord Clin Pract. 2018 Nov 9;6(1):11-16. doi: 10.1002/mdc3.12687. eCollection 2019 Jan.
5
22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.
Epilepsia. 2017 Jun;58(6):1095-1101. doi: 10.1111/epi.13748. Epub 2017 Apr 27.
6
22q11.2 deletion syndrome.
Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71.
7
The prevalence of primary dystonia: a systematic review and meta-analysis.
Mov Disord. 2012 Dec;27(14):1789-96. doi: 10.1002/mds.25244. Epub 2012 Oct 31.
8
Movement disorder emergencies.
Mov Disord. 2005 Mar;20(3):322-34. doi: 10.1002/mds.20325.
Zotero 插件