adck3相关共济失调的节段性脑干肌阵挛：一种新现象？

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY

Parkinsonism & related disorders Pub Date : 2025-01-04 DOI:10.1016/j.parkreldis.2025.107262

Vito Luigi Colona, Giacomo Garone, Francesco Nicita, Lorena Travaglini, Stefano Pro, Maria Camilla Rossi-Espagnet, Anna Piluso, Eleonora Bisozzi, Donatella Lettori, Enrico Bertini, Gessica Vasco

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引用次数: 0

摘要

节段性脑干肌阵挛（SBM）是一种罕见的运动障碍，其特征是由脑干节段支配的肌肉有节奏地收缩。我们报告了一位20岁的adck3相关脊髓小脑性共济失调9型（SCAR9）患者，其表现为喉咙、舌头和软腭的突发性肌阵挛性运动。脑部MRI表现稳定，包括齿状核高强度。该病例提示SBM与SCAR9之间可能存在关联，值得进一步研究。

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Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?

Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities. This case suggests a possible association between SBM and SCAR9, warranting further investigation.

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.