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儿童小脑共济失调。

Childhood cerebellar ataxia.

作者信息

Fogel Brent L

机构信息

Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.

出版信息

J Child Neurol. 2012 Sep;27(9):1138-45. doi: 10.1177/0883073812448231. Epub 2012 Jul 4.

Abstract

Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to diagnose. Presentations tend to be clinically heterogeneous, but key considerations may vary based on the child's age at onset, the course of illness, and subtle differences in phenotype. Systematic investigation is recommended for efficient diagnosis. In this review, we outline common etiologies and describe a comprehensive approach to the evaluation of both acquired and genetic cerebellar ataxia in children.

摘要

共济失调是一种因小脑损伤或功能障碍导致的平衡和协调能力受损,儿童期共济失调的临床表现往往难以诊断。其表现通常在临床上具有异质性,但关键的考虑因素可能因发病时儿童的年龄、病程以及表型的细微差异而有所不同。建议进行系统检查以实现高效诊断。在本综述中,我们概述了常见病因,并描述了评估儿童获得性和遗传性小脑共济失调的综合方法。

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本文引用的文献

1
Interpretation of genetic testing: variants of unknown significance.
Continuum (Minneap Minn). 2011 Apr;17(2 Neurogenetics):347-52. doi: 10.1212/01.CON.0000396975.87637.86.
2
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.
3
Clinical clues to differentiating inherited and noninherited etiologies of childhood ataxias.
J Pediatr. 2012 Jan;160(1):152-7. doi: 10.1016/j.jpeds.2011.06.029. Epub 2011 Aug 15.
4
Ataxia-telangiectasia.
Handb Clin Neurol. 2012;103:307-32. doi: 10.1016/B978-0-444-51892-7.00019-X.
5
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
Orphanet J Rare Dis. 2011 Mar 10;6:8. doi: 10.1186/1750-1172-6-8.
6
Update on diagnosis, treatment, and prognosis in opsoclonus-myoclonus-ataxia syndrome.
Curr Opin Pediatr. 2010 Dec;22(6):745-50. doi: 10.1097/MOP.0b013e32833fde3f.
7
Long-term effects of coordinative training in degenerative cerebellar disease.
Mov Disord. 2010 Oct 15;25(13):2239-46. doi: 10.1002/mds.23222.
8
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Lancet Neurol. 2010 Sep;9(9):885-94. doi: 10.1016/S1474-4422(10)70183-6.
9
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Ann Neurol. 2010 Aug;68(2):259-63. doi: 10.1002/ana.22035.
10
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20.

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