脆性x相关震颤/共济失调综合征伴小脑上足部病变1例

Q3 Neuroscience

eNeurologicalSci Pub Date : 2025-05-25 DOI:10.1016/j.ensci.2025.100571

Kunihiko Ishizawa , Kentaro Hashimoto , Hironori Oka , Takashi Sugawara , Masakuni Amari , Takeshi Kawarabayashi , Koichi Okamoto , Chisato Tamai , Jun Sone , Yoshio Ikeda , Masamitsu Takatama , Mikio Shoji

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引用次数: 0

摘要

脆性x相关震颤/共济失调综合征是一种影响FMR1基因突变携带者的神经退行性疾病，涉及CGG重复序列扩增。我们报告了一名66岁男性的病例，他患有脆性x相关震颤/共济失调综合征，这是由FMR1基因的前兆突变引起的，大约有80-110个CGG重复。他表现出进行性认知能力下降、构音障碍、躯干共济失调和身体不协调。mri示小脑中蒂和脾胼胝体明显征象，皮肤活检显示p62阳性核包涵体。遗传分析显示NOTCH2NLC基因未扩增。FMR1基因中的CGG重复序列证实了脆性x相关震颤/共济失调综合征的诊断。我们在本病例中发现了新的小脑上脚和小脑上脚讨论病变，提示脆性x相关震颤/共济失调综合征可能存在突出和早期的磁共振成像病变。

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A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions

Fragile X-associated tremor/ataxia syndrome is a neurodegenerative disorder affecting carriers of a premutation in the FMR1 gene involving expansion of CGG repeats. We present the case of a 66-year-old man with fragile X-associated tremor/ataxia syndrome caused by a premutation of the FMR1 gene with approximately 80–110 CGG repeats. He demonstrated progressive cognitive decline, dysarthria, truncal ataxia, and incoordination. Magnetic resonance imaging revealed prominent middle cerebellar peduncle and corpus callosum splenium signs, while skin biopsy showed p62-positive nuclear inclusion bodies. Genetic analysis showed no expansion of the NOTCH2NLC gene. The diagnosis of fragile X-associated tremor/ataxia syndrome was confirmed by the CGG repeats in the FMR1 gene. We discovered new superior cerebellar peduncle and superior cerebellar peduncle decussation lesions in our case, suggesting the possibility of prominent and early magnetic resonance imaging lesions in fragile X-associated tremor/ataxia syndrome.

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来源期刊

eNeurologicalSci Neuroscience-Neurology

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

62 days

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