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波兰首例脊髓小脑共济失调 3 型(马查多-约瑟夫病)报告。

First report on spinocerebellar ataxia type 3 (Machado-Joseph disease) in Poland.

机构信息

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland.

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

出版信息

Parkinsonism Relat Disord. 2022 Dec;105:39-42. doi: 10.1016/j.parkreldis.2022.10.028. Epub 2022 Oct 28.

DOI:10.1016/j.parkreldis.2022.10.028
PMID:36334556
Abstract

Spinocerebellar ataxia type 3 (SCA3; Machado-Joseph disease, MJD) is the most common autosomal-dominant form of genetic ataxia worldwide. However, it has never been reported in Eastern Europe. This letter presents the first three families with SCA3 from Poland and discusses the practical implications of the disease for clinicians.

摘要

脊髓小脑性共济失调 3 型(SCA3;马查多-约瑟夫病,MJD)是全球最常见的常染色体显性遗传性共济失调。然而,它从未在东欧报道过。这封信介绍了来自波兰的 SCA3 的前三个家系,并讨论了该疾病对临床医生的实际影响。

相似文献

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First report on spinocerebellar ataxia type 3 (Machado-Joseph disease) in Poland.波兰首例脊髓小脑共济失调 3 型(马查多-约瑟夫病)报告。
Parkinsonism Relat Disord. 2022 Dec;105:39-42. doi: 10.1016/j.parkreldis.2022.10.028. Epub 2022 Oct 28.
2
Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3.显性遗传性共济失调:从马查多-约瑟夫病/脊髓小脑共济失调3型中汲取的经验教训。
Semin Neurol. 2007 Apr;27(2):133-42. doi: 10.1055/s-2007-971172.
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Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD).3型脊髓小脑共济失调(SCA3)在基因上与马查多-约瑟夫病(MJD)相同。
J Neurol Sci. 1995 Sep;132(1):71-5. doi: 10.1016/0022-510x(95)90927-i.
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Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.3型脊髓小脑共济失调与马查多-约瑟夫病的分子与临床关联
Ann Neurol. 1995 Jul;38(1):68-72. doi: 10.1002/ana.410380113.
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[Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease].[3型脊髓小脑共济失调/马查多-约瑟夫病的分子遗传学最新进展]
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Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease.患有3型脊髓小脑共济失调(SCA)的美国家庭中的突变:SCA3与马查多-约瑟夫病等位。
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