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Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia.

作者信息

Avelino Marcela Amaral, Pedroso José Luiz, Orlacchio Antonio, Barsottini Orlando Graziani Povoas, Masruha Marcelo Rodrigues

机构信息

Department of Neurology Division of Child Neurology, Universidade Federal de São Paulo São Paulo Brazil.

Department of Neurology Ataxia Unit, Universidade Federal de São Paulo São Paulo Brazil.

出版信息

Mov Disord Clin Pract. 2014 Jun 11;1(3):252-254. doi: 10.1002/mdc3.12050. eCollection 2014 Sep.

DOI:10.1002/mdc3.12050
PMID:30713860
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6353405/
Abstract
摘要

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本文引用的文献

1
Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.婴儿期起病的脊髓小脑共济失调2型（SCA2）：一份临床报告并回顾既往病例
J Child Neurol. 2014 Jan;29(1):139-44. doi: 10.1177/0883073813509015. Epub 2013 Dec 2.
2
Unusual movement disorders in spinocerebellar ataxias.脊髓小脑共济失调中的异常运动障碍。
Parkinsonism Relat Disord. 2013 Sep;19(9):834-5. doi: 10.1016/j.parkreldis.2013.04.012. Epub 2013 May 30.
3
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.CAG 重复长度在儿童发病型齿状核红核苍白球路易体萎缩症中的重要性。
J Neurol. 2012 Nov;259(11):2329-34. doi: 10.1007/s00415-012-6493-7. Epub 2012 Apr 18.
4
Infantile childhood onset of spinocerebellar ataxia type 2.脊髓小脑共济失调 2 型婴儿期起病。
Cerebellum. 2012 Jun;11(2):526-30. doi: 10.1007/s12311-011-0315-9.
5
Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms.SCA2 伴自主神经功能障碍、视网膜色素变性和婴儿痉挛的巨大扩展。
Neurology. 2011 Sep 13;77(11):1055-60. doi: 10.1212/WNL.0b013e31822e5627. Epub 2011 Aug 31.
6
SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome.表现为共济失调-帕金森综合征-运动神经元病综合征的脊髓小脑共济失调2型
Arq Neuropsiquiatr. 2011;69(2B):405-6. doi: 10.1590/s0004-282x2011000300027.
7
Movement disorders in spinocerebellar ataxias.脊髓小脑共济失调中的运动障碍。
Mov Disord. 2011 Apr;26(5):792-800. doi: 10.1002/mds.23584. Epub 2011 Mar 2.
8
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.儿童期起病的共济失调：SCA2和SCA7中大型CAG重复序列的检测。
Am J Med Genet. 2002 Jul 15;110(4):338-45. doi: 10.1002/ajmg.10467.
9
The spinocerebellar ataxias: molecular progress and newly recognized paediatric phenotypes.脊髓小脑共济失调：分子进展与新认识的儿科表型
Eur J Paediatr Neurol. 2000;4(1):9-15. doi: 10.1053/ejpn.1999.0254.
10
Central phenotype and related varieties of spinocerebellar ataxia 2 (SCA2): a clinical and genetic study with a pedigree in the Japanese.脊髓小脑共济失调2型（SCA2）的核心表型及相关类型：一项对日本家系的临床与遗传学研究
J Neurol Sci. 1996 Dec;144(1-2):176-81. doi: 10.1016/s0022-510x(96)00225-0.