ArticleeNeurologicalSci2025
FXTAS presenting with cervical dystonia as the initial symptom: Considering FXTAS in the clinical evaluation of cervical dystonia.
Article in eNeurologicalSci, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Dystonic Head Tremor as a Presenting Feature of FMR1 Premutation: A Case Report.Annals of Indian Academy of Neurology · 2026Article
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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
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