FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia

Q3 Neuroscience

eNeurologicalSci Pub Date : 2025-07-22 DOI:10.1016/j.ensci.2025.100578

Homare Funasaka, Serika Kanazawa, Sachiko Kamada

{"title":"FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia","authors":"Homare Funasaka, Serika Kanazawa, Sachiko Kamada","doi":"10.1016/j.ensci.2025.100578","DOIUrl":null,"url":null,"abstract":"<div><div>FXTAS (Fragile X-associated tremor/ataxia syndrome) is characterized by typical clinical features, including tremor, cerebellar ataxia, parkinsonism, and the middle cerebellar peduncle (MCP) sign, which appears as T2 hyperintensity in the MCP on MRI. FXTAS is almost never considered in the context of cervical dystonia. However, this case demonstrates that FXTAS can initially present with cervical dystonia.</div><div>A 59-year-old man presented with cervical dystonia, characterized by right lateral flexion, and sensory trick. His initial symptom was cervical tilt at age 54. At age 55, the patient developed an unsteady gait. The patient was unable to perform a tandem gait and stand up from a crouch, suggesting trunk ataxia, and exhibited lateral gaze nystagmus, which was indicative of a cerebellar disorder. MRI revealed MCP sign. Genetic testing confirmed FXTAS, revealing 90 CGG repeats in the <em>FMR 1</em> (Fragile X Mental Retardation 1) gene.</div><div>Notably, a pre-symptomatic MRI, incidentally acquired at the age of 52, retrospectively revealed the presence of the MCP sign. This suggests that, even when FXTAS initially presents as cervical dystonia, the MCP sign can remain a reliable diagnostic feature for early detection.</div><div>This case highlights that early FXTAS may mimic idiopathic cervical dystonia and that considering FXTAS during the clinical evaluation of cervical dystonia can enable early diagnosis.</div></div>","PeriodicalId":37974,"journal":{"name":"eNeurologicalSci","volume":"40 ","pages":"Article 100578"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"eNeurologicalSci","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2405650225000322","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Neuroscience","Score":null,"Total":0}

引用次数: 0

Abstract

FXTAS (Fragile X-associated tremor/ataxia syndrome) is characterized by typical clinical features, including tremor, cerebellar ataxia, parkinsonism, and the middle cerebellar peduncle (MCP) sign, which appears as T2 hyperintensity in the MCP on MRI. FXTAS is almost never considered in the context of cervical dystonia. However, this case demonstrates that FXTAS can initially present with cervical dystonia.

A 59-year-old man presented with cervical dystonia, characterized by right lateral flexion, and sensory trick. His initial symptom was cervical tilt at age 54. At age 55, the patient developed an unsteady gait. The patient was unable to perform a tandem gait and stand up from a crouch, suggesting trunk ataxia, and exhibited lateral gaze nystagmus, which was indicative of a cerebellar disorder. MRI revealed MCP sign. Genetic testing confirmed FXTAS, revealing 90 CGG repeats in the FMR 1 (Fragile X Mental Retardation 1) gene.

Notably, a pre-symptomatic MRI, incidentally acquired at the age of 52, retrospectively revealed the presence of the MCP sign. This suggests that, even when FXTAS initially presents as cervical dystonia, the MCP sign can remain a reliable diagnostic feature for early detection.

This case highlights that early FXTAS may mimic idiopathic cervical dystonia and that considering FXTAS during the clinical evaluation of cervical dystonia can enable early diagnosis.

查看原文本刊更多论文

FXTAS以宫颈张力障碍为首发症状：考虑FXTAS在宫颈张力障碍临床评价中的作用

FXTAS（脆性x相关震颤/共济失调综合征）以典型的临床特征为特征，包括震颤、小脑性共济失调、帕金森病和小脑中脚（MCP）征象，在MRI上表现为MCP的T2高信号。FXTAS几乎从未被考虑在宫颈肌张力障碍的背景下。然而，本病例表明，FXTAS最初可表现为宫颈肌张力障碍。一个59岁的男人提出颈肌张力障碍，其特点是右外侧屈曲，和感觉障碍。他最初的症状是54岁时颈椎倾斜。55岁时，患者出现步态不稳。患者不能完成串联步态和从蹲姿站起来，提示躯干共济失调，并表现出侧视眼球震颤，提示小脑障碍。MRI示MCP征。基因检测证实了FXTAS，在fmr1（脆性X智力迟钝1）基因中发现了90个CGG重复序列。值得注意的是，52岁时偶然获得的症状前MRI回顾性显示MCP征象的存在。这表明，即使FXTAS最初表现为宫颈肌张力障碍，MCP征象仍然可以作为早期发现的可靠诊断特征。本病例强调早期FXTAS可能与特发性宫颈肌张力障碍相似，在临床评估宫颈肌张力障碍时考虑FXTAS有助于早期诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

eNeurologicalSci Neuroscience-Neurology

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

62 days

期刊介绍： eNeurologicalSci provides a medium for the prompt publication of original articles in neurology and neuroscience from around the world. eNS places special emphasis on articles that: 1) provide guidance to clinicians around the world (Best Practices, Global Neurology); 2) report cutting-edge science related to neurology (Basic and Translational Sciences); 3) educate readers about relevant and practical clinical outcomes in neurology (Outcomes Research); and 4) summarize or editorialize the current state of the literature (Reviews, Commentaries, and Editorials). eNS accepts most types of manuscripts for consideration including original research papers, short communications, reviews, book reviews, letters to the Editor, opinions and editorials. Topics considered will be from neurology-related fields that are of interest to practicing physicians around the world. Examples include neuromuscular diseases, demyelination, atrophies, dementia, neoplasms, infections, epilepsies, disturbances of consciousness, stroke and cerebral circulation, growth and development, plasticity and intermediary metabolism. The fields covered may include neuroanatomy, neurochemistry, neuroendocrinology, neuroepidemiology, neurogenetics, neuroimmunology, neuroophthalmology, neuropathology, neuropharmacology, neurophysiology, neuropsychology, neuroradiology, neurosurgery, neurooncology, neurotoxicology, restorative neurology, and tropical neurology.