The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome.
作者信息
Zaleski Christina, Bassett Anne S, Tam Karen, Shugar Andrea L, Chow Eva W C, McPherson Elizabeth
机构信息
Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin 54449, USA.
出版信息
Am J Med Genet A. 2009 Mar;149A(3):525-8. doi: 10.1002/ajmg.a.32650.
Abstract
摘要
相似文献
1
The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome.
Am J Med Genet A. 2009 Mar;149A(3):525-8. doi: 10.1002/ajmg.a.32650.
2
Early-onset Parkinson disease leading to diagnosis of 22q11.2 deletion syndrome.
Parkinsonism Relat Disord. 2016 Apr;25:110-1. doi: 10.1016/j.parkreldis.2016.01.027. Epub 2016 Feb 3.
3
Chronic arthritis associated with chromosome deletion 22q11.2 syndrome.
J Rheumatol. 2002 Dec;29(12):2648-50.
4
Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications.
JAMA Neurol. 2013 Nov;70(11):1359-66. doi: 10.1001/jamaneurol.2013.3646.
5
A novel 22q11.2 microdeletion in DiGeorge syndrome.
Am J Hum Genet. 1999 Feb;64(2):659-66. doi: 10.1086/302235.
6
Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.
Am J Hum Genet. 1997 Jun;60(6):1544-8. doi: 10.1016/S0002-9297(07)64250-5.
7
The human genome: chromosome 22q11 deletion syndrome.
Am J Psychiatry. 2002 Apr;159(4):527. doi: 10.1176/appi.ajp.159.4.527.
8
Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.
Clin Genet. 1994 Aug;46(2):187-92. doi: 10.1111/j.1399-0004.1994.tb04222.x.
9
Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome).
Clin Genet. 2003 Nov;64(5):447-8. doi: 10.1034/j.1399-0004.2003.00145.x.
10
Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome.
Hum Mol Genet. 1995 Dec;4(12):2417-9. doi: 10.1093/hmg/4.12.2417.
引用本文的文献
1
Drug-induced parkinsonism in a patient with DiGeorge syndrome: a case report.
Front Neurosci. 2024 Nov 27;18:1483587. doi: 10.3389/fnins.2024.1483587. eCollection 2024.
2
RNA-seq analysis of gene expression profiles in posttraumatic stress disorder, Parkinson's disease and schizophrenia identifies roles for common and distinct biological pathways.
Discov Ment Health. 2022 Mar 3;2(1):6. doi: 10.1007/s44192-022-00009-y.
3
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
Int J Mol Sci. 2023 Feb 14;24(4):3796. doi: 10.3390/ijms24043796.
4
Structural Cerebellar Abnormalities and Parkinsonism in Patients with 22q11.2 Deletion Syndrome.
Brain Sci. 2022 Nov 12;12(11):1533. doi: 10.3390/brainsci12111533.
5
Neurogenetic disorders across the lifespan: from aberrant development to degeneration.
Nat Rev Neurol. 2022 Feb;18(2):117-124. doi: 10.1038/s41582-021-00595-5. Epub 2022 Jan 5.
6
miR-185 and SEPT5 Genes May Contribute to Parkinson's Disease Pathophysiology.
Oxid Med Cell Longev. 2019 Nov 14;2019:5019815. doi: 10.1155/2019/5019815. eCollection 2019.
7
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.
Am J Speech Lang Pathol. 2019 Aug 9;28(3):984-999. doi: 10.1044/2019_AJSLP-16-0147. Epub 2019 Jul 22.
8
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.
J Neurosci. 2019 May 1;39(18):3561-3581. doi: 10.1523/JNEUROSCI.1983-18.2019. Epub 2019 Mar 4.
9
Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome.
Am J Speech Lang Pathol. 2019 Feb 21;28(1):53-82. doi: 10.1044/2018_AJSLP-18-0037.
10
A mouse model of 22q11.2 deletions: Molecular and behavioral signatures of Parkinson's disease and schizophrenia.
Sci Adv. 2018 Aug 15;4(8):eaar6637. doi: 10.1126/sciadv.aar6637. eCollection 2018 Aug.
本文引用的文献
1
Schizophrenia and 22q11.2 deletion syndrome.
Curr Psychiatry Rep. 2008 Apr;10(2):148-57. doi: 10.1007/s11920-008-0026-1.
2
Catechol O-methyltransferase Val158Met genotype influences frontoparietal activity during planning in patients with Parkinson's disease.
J Neurosci. 2007 May 2;27(18):4832-8. doi: 10.1523/JNEUROSCI.0774-07.2007.
3
Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome.
Biol Psychiatry. 2007 May 15;61(10):1135-40. doi: 10.1016/j.biopsych.2006.07.038. Epub 2007 Jan 9.
4
What is the evidence for a premorbid parkinsonian personality: a systematic review.
Mov Disord. 2006 Aug;21(8):1066-72. doi: 10.1002/mds.20980.
5
Neurocognitive profile in 22q11 deletion syndrome and schizophrenia.
Schizophr Res. 2006 Oct;87(1-3):270-8. doi: 10.1016/j.schres.2006.04.007. Epub 2006 Jun 6.
6
Clinical features of 78 adults with 22q11 Deletion Syndrome.
Am J Med Genet A. 2005 Nov 1;138(4):307-13. doi: 10.1002/ajmg.a.30984.
7
Catechol-O-methyltransferase and monoamine oxidase B genes and susceptibility to sporadic Parkinson's disease in a Polish population.
Eur Neurol. 2005;53(2):68-73. doi: 10.1159/000084302. Epub 2005 Mar 7.
8
The effect of monoamine oxidase B (MAOB) and catechol-O-methyltransferase (COMT) polymorphisms on levodopa therapy in patients with sporadic Parkinson's disease.
Acta Neurol Scand. 2004 Oct;110(4):260-6. doi: 10.1111/j.1600-0404.2004.00315.x.
9
Planning ability in Parkinson's disease is influenced by the COMT val158met polymorphism.
Mov Disord. 2004 Aug;19(8):885-91. doi: 10.1002/mds.20118.
10
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.
Arch Dis Child. 2004 Feb;89(2):148-51. doi: 10.1136/adc.2003.026880.
Zotero 插件