Fragilt X-assosiert tremor-ataksi-syndrom

Hoem, Gry; Koht, Jeanette

doi:10.4045/tidsskr.17.0317

Cited by 1 publication

(1 citation statement)

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“…Recently, some scholars found that the fragile X-related tremor/ataxia syndrome (FXTAS) also had similar features on imaging (10), and the clinical symptoms of the two are quite similar. Therefore, NIID should be distinguished from FXTAS by the number of CGG repeats in the FMR1 gene (11). Along with the strong evidence from imaging and gene detection, we finally confirmed this case as NIID by pathological examination of the skin biopsy.…”

Section: Discussionsupporting

confidence: 59%

A Case Report of Sporadic Adult Neuronal Intranuclear Inclusion Disease (NIID) With Stroke-Like Onset

Lin

Jin

et al. 2020

Front. Neurol.

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Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. The clinical manifestations of NIID are complex and easily misdiagnosed. Based on the current knowledge of this disease, it is usually chronic, with almost no acute cases. Stroke-like disease is an extremely rare type of NIID.Case Presentation: A 61-year-old woman was admitted to our hospital with sudden left limb weakness. Diffusion magnetic resonance imaging (MRI) demonstrated high signal intensity in the skin-medullary junction area. Tissue pathology showed eosinophilic inclusions in the nuclei of the sweat gland cells and fat cells of the skin. Subsequent genetic analysis of the fragile X chromosome mental retardation gene 1 (FMR1) gene showed that the CGG repeat number was in the normal range, excluding fragile X-related tremor/ataxia syndrome (FXTAS). After 3 weeks of hospitalization, the patient's condition improved, and the left limb muscle strength recovered. Her symptoms were almost completely diminished after 3 months. Conclusion:This case demonstrates the strong clinical heterogeneity of NIID. NIID can manifest as acute hemiplegia and a stroke-like attack. This case study provides new information for the diagnosis of NIID and the classification of the clinical characteristics.

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Section: Discussionsupporting

confidence: 59%