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A Novel Clinical Phenotype of Fragile X-Associated Tremor/Ataxia Syndrome.脆性X相关震颤/共济失调综合征的一种新型临床表型。
Mov Disord Clin Pract. 2018 Jul 19;5(4):430-432. doi: 10.1002/mdc3.12637. eCollection 2018 Jul-Aug.
2
Fragile X syndrome and fragile X-associated tremor ataxia syndrome.脆性X综合征和脆性X相关震颤共济失调综合征。
Handb Clin Neurol. 2018;147:377-391. doi: 10.1016/B978-0-444-63233-3.00025-7.
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A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS.一个伴有直立性震颤的脆性 X 相关震颤/共济失调综合征（FXTAS）的中国病例：FXTAS 震颤的病例报告及文献复习。
BMC Neurol. 2020 Apr 20;20(1):145. doi: 10.1186/s12883-020-01726-z.
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Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.脆性X综合征和脆性X相关震颤/共济失调综合征：FMR1的两面。
Lancet Neurol. 2007 Jan;6(1):45-55. doi: 10.1016/S1474-4422(06)70676-7.
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The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.脆性X智力低下1基因（FMR1）：历史回顾、表型、机制、病理学及流行病学
Clin Neuropsychol. 2016 Aug;30(6):815-33. doi: 10.1080/13854046.2016.1184652. Epub 2016 Jun 29.
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The spectrum of tremor among carriers of the FMR1 premutation with or without the fragile X-associated tremor/ataxia syndrome (FXTAS).携带脆性 X 相关震颤/共济失调综合征 (FXTAS) 或不携带脆性 X 相关震颤/共济失调综合征的 FMR1 前突变携带者的震颤谱。
Parkinsonism Relat Disord. 2019 Aug;65:32-38. doi: 10.1016/j.parkreldis.2019.05.010. Epub 2019 May 7.
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.脆性X相关震颤/共济失调综合征在前突变携带者群体中的外显率。
JAMA. 2004 Jan 28;291(4):460-9. doi: 10.1001/jama.291.4.460.
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Neuropsychiatry of fragile X-premutation carriers with and without fragile X-associated tremor-ataxia syndrome: implications for neuropsychology.伴有和不伴有脆性X相关震颤性共济失调综合征的脆性X前突变携带者的神经精神病学：对神经心理学的启示
Clin Neuropsychol. 2016 Aug;30(6):913-28. doi: 10.1080/13854046.2016.1192134. Epub 2016 Jun 29.
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FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).脆性X相关震颤/共济失调综合征（FXTAS）核内包涵体中的FMR1 RNA。
RNA Biol. 2004 Jul;1(2):103-5. doi: 10.4161/rna.1.2.1035. Epub 2004 Jul 17.
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A cerebellar tremor/ataxia syndrome among fragile X premutation carriers.脆性X前突变携带者中的小脑震颤/共济失调综合征。
Cytogenet Genome Res. 2003;100(1-4):206-12. doi: 10.1159/000072856.
引用本文的文献
1
FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia.以颈部肌张力障碍为首发症状的脆性X震颤共济失调综合征：在颈部肌张力障碍的临床评估中考虑脆性X震颤共济失调综合征。
eNeurologicalSci. 2025 Jul 22;40:100578. doi: 10.1016/j.ensci.2025.100578. eCollection 2025 Sep.
2
Long-Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia.长读长测序：肌张力障碍的第三代诊断检测方法
Mov Disord. 2025 Jun;40(6):1009-1019. doi: 10.1002/mds.30208. Epub 2025 Apr 23.
3
Dystonic Tremor as the Clinical Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome.肌张力障碍性震颤作为脆性X相关震颤/共济失调综合征的临床表现
Mov Disord Clin Pract. 2024 Dec;11(12):1629-1631. doi: 10.1002/mdc3.14208. Epub 2024 Sep 13.
4
Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers.衰老的脆性X智力低下1基因前突变携带者的精确感觉运动控制
Front Integr Neurosci. 2019 Oct 2;13:56. doi: 10.3389/fnint.2019.00056. eCollection 2019.
本文引用的文献
1
The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome.脆性X相关震颤共济失调综合征中的胼胝体压部征
Mov Disord Clin Pract. 2016 Nov 16;4(3):383-388. doi: 10.1002/mdc3.12449. eCollection 2017 May-Jun.
2
Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome.开放性阿朴孕烷醇酮治疗脆性 X 相关震颤/共济失调综合征男性患者。
Neurotherapeutics. 2017 Oct;14(4):1073-1083. doi: 10.1007/s13311-017-0555-6.
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Cerebellar Mild Iron Accumulation in a Subset of FMR1 Premutation Carriers with FXTAS.脆性X智力低下1基因前突变携带者伴脆性X震颤共济失调综合征患者亚组中存在小脑轻度铁蓄积。
Cerebellum. 2016 Oct;15(5):641-4. doi: 10.1007/s12311-016-0798-5.
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Expanding the phenotype of fragile X-associated tremor/ataxia syndrome: a new female case.扩展脆性X相关震颤/共济失调综合征的表型：一例新的女性病例
Mov Disord. 2007 Aug 15;22(11):1677-8. doi: 10.1002/mds.21571.
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Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.脆性X相关震颤/共济失调综合征的对症治疗。
Mov Disord. 2006 Oct;21(10):1741-4. doi: 10.1002/mds.21001.
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Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).脆性X相关震颤/共济失调综合征（FXTAS）的神经病理学
Brain. 2006 Jan;129(Pt 1):243-55. doi: 10.1093/brain/awh683. Epub 2005 Dec 5.
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Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.脆性X前突变个体中FMR1 mRNA的异常升高与心理症状相关。
Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):115-21. doi: 10.1002/ajmg.b.30241.
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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.脆性X智力低下1基因前突变是迟发性散发性小脑共济失调常见的遗传病因。
Neurology. 2005 Jan 11;64(1):145-7. doi: 10.1212/01.WNL.0000148723.37489.3F.
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.脆性X相关震颤/共济失调综合征在前突变携带者群体中的外显率。
JAMA. 2004 Jan 28;291(4):460-9. doi: 10.1001/jama.291.4.460.
10
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.脆性X综合征男性携带者出现意向性震颤、帕金森综合征及广泛性脑萎缩。
Neurology. 2001 Jul 10;57(1):127-30. doi: 10.1212/wnl.57.1.127.
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