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Fragile X- associated Neuropsychiatric Disorders: A Case Report.脆性X染色体相关神经精神障碍:一例报告
Future Neurol. 2019 May;14(2). doi: 10.2217/fnl-2018-0040. Epub 2019 May 24.
2
Fragile X syndrome: clinical presentation, pathology and treatment.脆性X综合征:临床表现、病理学及治疗
Gac Med Mex. 2020;156(1):60-66. doi: 10.24875/GMM.19005275.
3
Fragile X syndrome and associated disorders: Clinical aspects and pathology.脆性 X 综合征及相关疾病:临床特征与病理学
Neurobiol Dis. 2020 Mar;136:104740. doi: 10.1016/j.nbd.2020.104740. Epub 2020 Jan 10.
4
Autism, Psychosis, or Both? Unraveling Complex Patient Presentations.自闭症、精神病,还是两者皆有?解读复杂的患者症状表现。
Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):103-113. doi: 10.1016/j.chc.2019.08.003. Epub 2019 Sep 18.
5
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.脆性 X 综合征 CGG 重复前突变在小鼠中的星形胶质细胞靶向表达导致 RAN 翻译、运动缺陷,并可能为 FXTAS 病理学的细胞间传播提供证据。
Acta Neuropathol Commun. 2019 Feb 26;7(1):27. doi: 10.1186/s40478-019-0677-7.
6
Fragile X-Associated Neuropsychiatric Disorders (FXAND).脆性X染色体相关神经精神障碍(FXAND)
Front Psychiatry. 2018 Nov 13;9:564. doi: 10.3389/fpsyt.2018.00564. eCollection 2018.
7
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.脆性 X 综合征患者中有一部分人的蛋白质合成水平升高。
Hum Mol Genet. 2018 Jun 15;27(12):2039-2051. doi: 10.1093/hmg/ddy099.
8
Broad autism spectrum and obsessive-compulsive symptoms in adults with the fragile X premutation.脆性X前突变成年患者的广泛自闭症谱系障碍和强迫症状
Clin Neuropsychol. 2016 Aug;30(6):929-43. doi: 10.1080/13854046.2016.1189536. Epub 2016 Jun 29.
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Catatonia in 26 patients with bipolar disorder: clinical features and response to electroconvulsive therapy.26例双相情感障碍患者的紧张症:临床特征及对电休克治疗的反应
Bipolar Disord. 2015 Dec;17(8):892-901. doi: 10.1111/bdi.12348. Epub 2015 Dec 8.
10
Psychosis and catatonia in fragile X: Case report and literature review.脆性X综合征中的精神病和紧张症:病例报告及文献综述
Intractable Rare Dis Res. 2015 Aug;4(3):139-46. doi: 10.5582/irdr.2015.01028.

脆性X综合征中的精神病和紧张症

Psychosis and Catatonia in Fragile X Syndrome.

作者信息

Keshtkarjahromi Mitra, Palvadi Karishma, Shah Aayush, Dempsey Kendall R, Tonarelli Silvina

机构信息

Psychiatry, University of Maryland, Baltimore, USA.

Psychiatry, Texas Tech University Health Sciences Center El Paso, El Paso, USA.

出版信息

Cureus. 2021 Jan 21;13(1):e12843. doi: 10.7759/cureus.12843.

DOI:10.7759/cureus.12843
PMID:33633882
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7899258/
Abstract

Fragile X syndrome is an inherited disorder with an X-linked dominant inheritance pattern that is the most commonly inherited cause of intellectual developmental disorder and has a strong association with autism spectrum disorder. This report describes the case of an 18-year-old male with fragile X syndrome and multiple psychiatric comorbidities who presented with new onset psychosis and catatonia.

摘要

脆性X综合征是一种具有X连锁显性遗传模式的遗传性疾病,是智力发育障碍最常见的遗传原因,且与自闭症谱系障碍密切相关。本报告描述了一名患有脆性X综合征和多种精神疾病合并症的18岁男性病例,该患者出现了新发精神病和紧张症。