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一名非洲裔患者的2型亨廷顿病样病例：分子时代临床检查的持久支持

A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.

作者信息

Ruscitti Federica, Origone Paola, Rosti Giulia, Trevisan Lucia, Marchese Roberta, Brugnolo Andrea, Massa Federico, Castellini Paola, Mandich Paola

机构信息

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.

IRCCS Ospedale Policlinico San Martino, Medical Genetics Unit Genoa Italy.

出版信息

Clin Case Rep. 2022 Oct 6;10(10):e6308. doi: 10.1002/ccr3.6308. eCollection 2022 Oct.

DOI:10.1002/ccr3.6308
PMID:36237940
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9536496/
Abstract

Chorea, cognitive decline, and psychiatric symptoms are shared by Huntington's disease (HD) and similar conditions called HD phenocopies. We describe the first case reported in Italy of Huntington disease-like 2 (HDL2), clinically and radiologically indistinguishable from HD, showing the importance of considering African ancestry in the diagnostic process.

摘要

亨廷顿舞蹈症（HD）以及被称为HD拟表型的类似病症都存在舞蹈症、认知衰退和精神症状。我们描述了意大利报告的首例2型亨廷顿舞蹈症样病（HDL2），其临床和放射学表现与HD无法区分，这表明在诊断过程中考虑非洲血统的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2301/9536496/45e19b351143/CCR3-10-e6308-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2301/9536496/e798dbf7e8c4/CCR3-10-e6308-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2301/9536496/45e19b351143/CCR3-10-e6308-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2301/9536496/e798dbf7e8c4/CCR3-10-e6308-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2301/9536496/45e19b351143/CCR3-10-e6308-g003.jpg

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Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.导致类亨廷顿病2型（HDL2）的连接蛋白3（JPH3）扩展突变在有非洲血统且表现出亨廷顿病表型的南非患者中很常见。
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引用本文的文献

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Huntington disease-like 2: insight into neurodegeneration from an African disease.亨廷顿病样2型：从一种非洲疾病中洞察神经退行性变
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本文引用的文献

1
The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease.亨廷顿病样 2 型神经精神疾病：与亨廷顿病的比较。
J Huntingtons Dis. 2020;9(4):325-334. doi: 10.3233/JHD-200422.
2
Huntington's disease-like 2: a phenocopy not to miss.亨廷顿病样 2：一种不容忽视的表型模拟。
Pract Neurol. 2020 Dec;20(6):479-481. doi: 10.1136/practneurol-2020-002590. Epub 2020 Sep 29.
3
A systematic scoping review of the genetic ancestry of the Brazilian population.对巴西人群遗传血统的系统综述。
Genet Mol Biol. 2019 Jul-Sep;42(3):495-508. doi: 10.1590/1678-4685-GMB-2018-0076. Epub 2019 Nov 14.
4
Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.亨廷顿舞蹈症样2型与亨廷顿舞蹈症临床表型的比较。
Mov Disord Clin Pract. 2019 Mar 12;6(4):302-311. doi: 10.1002/mdc3.12742. eCollection 2019 Apr.
5
Huntington's disease-like disorders in Latin America and the Caribbean.拉丁美洲和加勒比地区的亨廷顿病样疾病。
Parkinsonism Relat Disord. 2018 Aug;53:10-20. doi: 10.1016/j.parkreldis.2018.05.021. Epub 2018 May 21.
6
A Systematic Review of the Huntington Disease-Like 2 Phenotype.亨廷顿舞蹈症样2型表型的系统评价
J Huntingtons Dis. 2017;6(1):37-46. doi: 10.3233/JHD-160232.
7
Pathogenic insights from Huntington's disease-like 2 and other Huntington's disease genocopies.来自2型亨廷顿舞蹈症样疾病及其他亨廷顿舞蹈症基因拷贝病的致病机制见解
Curr Opin Neurol. 2016 Dec;29(6):743-748. doi: 10.1097/WCO.0000000000000386.
8
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.采用临床与基因联合分析方法拓展亨廷顿病相关基因谱。
JAMA Neurol. 2016 Sep 1;73(9):1105-14. doi: 10.1001/jamaneurol.2016.2215.
9
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.导致类亨廷顿病2型（HDL2）的连接蛋白3（JPH3）扩展突变在有非洲血统且表现出亨廷顿病表型的南非患者中很常见。
Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):573-85. doi: 10.1002/ajmg.b.32332. Epub 2015 Jun 16.
10
A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.编码连接蛋白3的基因中的重复扩增与2型亨廷顿病样疾病相关。
Nat Genet. 2001 Dec;29(4):377-8. doi: 10.1038/ng760.