Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

被引：49
|
作者：
Boot, Erik [1 ,2 ,3 ,4 ]
Butcher, Nancy J. [5 ,6 ]
van Amelsvoort, Therese A. M. J. [7 ]
Lang, Anthony E. [6 ,8 ,9 ,10 ,11 ,12 ,13 ]
Marras, Connie [8 ,11 ,12 ,13 ]
Pondal, Margarita [11 ,12 ,13 ]
Andrade, Danielle M. [8 ,13 ,14 ]
Fung, Wai Lun Alan [1 ,3 ,4 ,5 ,15 ]
Bassett, Anne S. [1 ,3 ,4 ,5 ,6 ,15 ,16 ]
机构：
[1] Dalglish Family Hearts & Minds Clin Adults 22q11, Toronto, ON, Canada
[2] Univ Amsterdam, Acad Med Ctr, Dept Nucl Med, NL-1105 AZ Amsterdam, Netherlands
[3] Univ Hlth Network, Dept Psychiat, Toronto, ON, Canada
[4] Univ Toronto, Dept Psychiat, Toronto, ON, Canada
[5] Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON, Canada
[6] Univ Toronto, Inst Med Sci, Toronto, ON, Canada
[7] Maastricht Univ, Med Ctr, Sch Mental Hlth & Neurosci, Dept Psychiat & Psychol, NL-6200 MD Maastricht, Netherlands
[8] Univ Toronto, Dept Med, Div Neurol, Toronto, ON, Canada
[9] Univ Toronto, Dept Med, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada
[10] Univ Hlth Network, Toronto Western Hosp, Res Inst, Toronto, ON, Canada
[11] Morton & Gloria Shulman Movement Disorder Ctr, Toronto, ON, Canada
[12] Univ Hlth Network, Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Toronto, ON, Canada
[13] Univ Toronto, Toronto, ON, Canada
[14] Univ Hlth Network, Toronto Western Hosp, Epilepsy Genet Program, Toronto, ON, Canada
[15] Univ Hlth Network, Toronto Gen Res Inst, Toronto, ON, Canada
[16] Univ Hlth Network, Div Cardiol, Dept Med, Toronto, ON, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 03期
基金：
加拿大健康研究院;
关键词：
22q11 deletion syndrome; movement disorders; adult; parkinsonian disorders; myoclonus; essential tremor; antipsychotic agents; ONSET PARKINSON DISEASE; NEUROLOGICAL COMPLICATIONS; SCHIZOPHRENIA; MICRODELETION; PREVALENCE; MANAGEMENT; CHILDHOOD; CHILDREN; PROFILE; BRAIN;
D O I：
10.1002/ajmg.a.36928
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. (c) 2015 Wiley Periodicals, Inc.
引用
收藏
页码：639 / 645
页数：7
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