Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

Tanjung A.Sumekar; Aneel A.Ashrani; Tri I.Winarni; Randi J.Hagerman

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Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

机译：易感X相关震颤/共济失调综合症患者的不确定性单克隆丙种球蛋白病（MGUS）

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We report the clinical presentation and laboratory findings of a 69-year-old man with fragile X-associated tremor ataxia syndrome (FXTAS), a progressive neurodegenerative disorder, who was noted to have monoclonal gammopathy of undetermined significance (MGUS), a plasma cell proliferative disorder and a precursor disease of multiple myeloma. Both MGUS and FXTAS are associated with microRNA (miRNA) dysregulation. We speculate that individuals with FXTAS may be predisposed to MGUS and further studies are warranted regarding this association.

机译：我们报告了69岁的易碎X相关性震颤共济失调综合征（FXTAS）（一种进行性神经退行性疾病）的临床表现和实验室检查结果，该患者被发现具有意义不明的单克隆丙种球蛋白病（MGUS），浆细胞增生性疾病和多发性骨髓瘤的前体疾病。 MGUS和FXTAS都与microRNA（miRNA）失调有关。我们推测患有FXTAS的人可能易患MGUS，因此有必要就此关联进行进一步的研究。

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《Case Reports in Genetics》 |2011年第1期|共5页
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Tanjung A.Sumekar; Aneel A.Ashrani; Tri I.Winarni; Randi J.Hagerman;
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1. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. [J] . Hantash FM, Goos DM, Crossley B, Genetics in medicine . 2011,第1期

机译：接受常规人群基础载体筛查的患者中FMR1突变的载频：对脆性X综合征，脆性X相关性震颤/共济失调和脆性X相关性卵巢原发性供血不足的见解。
2. Late-onset Tremor and Ataxia Syndrome: Fragile X-Associated Tremor/Ataxia Syndrome and Neuroimaging Findings [J] . Levent ?cek, Onural Tümer, Figen Toku?o?lu, Turk Neuroloji Dergisi . 2017,第1期

机译：迟发性震颤和共济失调综合征：脆弱的X相关震颤/共济失调综合征和神经影像学发现。
3. Rituximab Failure In A Patient With Monoclonal Gammopathy Of Undetermined Significance (mgus)-associated Acquired Von Willebrand Syndrome [J] . Grimaldi D, Bartolucci P, Gouault-Heilmann M, Clinical Laboratory . 2008,第9a10期

机译：不确定意义（mgus）相关性获得性冯·威兰布兰德综合征的单克隆丙种球蛋白病患者的利妥昔单抗治疗失败
4. Unique Gait, Balance and Tremor Profiles Distinguish Fragile X-associated Tremor/Ataxia Syndrome from Parkinson Disease and Essential Tremor [D] . Robertson-Dick, Erin Elizabeth. 2018

机译：独特的步态，平衡和震颤概况与帕金森病和基本震颤的脆弱的X相关震颤/共济失调综合征区分
5. Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome [O] . Tanjung A. Sumekar, Aneel A. Ashrani, Tri I. Winarni, 2011

机译：易感X相关震颤/共济失调综合症患者的不确定性单克隆丙种球蛋白病（MGUS）
6. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States [O] . Feras M Hantash, Dana M Goos, Beryl Crossley, 2010

机译：FMR1可预级载体频率在接受常规人口载体筛查的患者：洞察易患X综合征，脆弱的X相关的震颤/共济失调综合征，以及美国脆弱的X相关原发卵巢不足

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

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