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Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series

Fragile X-associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disease developed by carriers of a premutation in the fragile X mental retardation 1 (FMR1) gene. The core clinical symptoms usually manifest in the early 60s, typically beginning with intention tremor followed by cerebel...

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Autores principales: Salcedo-Arellano, Maria Jimena, Cabal-Herrera, Ana Maria, Tassanakijpanich, Nattaporn, McLennan, Yingratana A., Hagerman, Randi J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277845/
https://www.ncbi.nlm.nih.gov/pubmed/32466255
http://dx.doi.org/10.3390/biomedicines8050136
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author Salcedo-Arellano, Maria Jimena
Cabal-Herrera, Ana Maria
Tassanakijpanich, Nattaporn
McLennan, Yingratana A.
Hagerman, Randi J.
author_facet Salcedo-Arellano, Maria Jimena
Cabal-Herrera, Ana Maria
Tassanakijpanich, Nattaporn
McLennan, Yingratana A.
Hagerman, Randi J.
author_sort Salcedo-Arellano, Maria Jimena
collection PubMed
description Fragile X-associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disease developed by carriers of a premutation in the fragile X mental retardation 1 (FMR1) gene. The core clinical symptoms usually manifest in the early 60s, typically beginning with intention tremor followed by cerebellar ataxia. Ataxia can be the only symptom in approximately 20% of the patients. FXTAS has a slow progression, and patients usually experience advanced deterioration 15 to 25 years after the initial diagnosis. Common findings in brain imaging include substantial brain atrophy and white matter disease (WMD). We report three cases with an atypical clinical presentation, all presenting with gait problems as their initial manifestation and with ataxia as the dominant symptom without significant tremor, as well as a faster than usual clinical progression. Magnetic resonance imaging (MRI) was remarkable for severe brain atrophy, ventriculomegaly, thinning of the corpus callosum, and periventricular WMD. Two cases were diagnosed with definite FXTAS on the basis of clinical and radiological findings, with one individual also developing moderate dementia. Factors such as environmental exposure and general anesthesia could have contributed to their clinical deterioration. FXTAS should be considered in the differential diagnosis of patients presenting with ataxia, even in the absence of tremor, and FMR1 DNA testing should be sought in those with a family history of fragile X syndrome or premutation disorders.
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spelling pubmed-72778452020-06-12 Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series Salcedo-Arellano, Maria Jimena Cabal-Herrera, Ana Maria Tassanakijpanich, Nattaporn McLennan, Yingratana A. Hagerman, Randi J. Biomedicines Case Report Fragile X-associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disease developed by carriers of a premutation in the fragile X mental retardation 1 (FMR1) gene. The core clinical symptoms usually manifest in the early 60s, typically beginning with intention tremor followed by cerebellar ataxia. Ataxia can be the only symptom in approximately 20% of the patients. FXTAS has a slow progression, and patients usually experience advanced deterioration 15 to 25 years after the initial diagnosis. Common findings in brain imaging include substantial brain atrophy and white matter disease (WMD). We report three cases with an atypical clinical presentation, all presenting with gait problems as their initial manifestation and with ataxia as the dominant symptom without significant tremor, as well as a faster than usual clinical progression. Magnetic resonance imaging (MRI) was remarkable for severe brain atrophy, ventriculomegaly, thinning of the corpus callosum, and periventricular WMD. Two cases were diagnosed with definite FXTAS on the basis of clinical and radiological findings, with one individual also developing moderate dementia. Factors such as environmental exposure and general anesthesia could have contributed to their clinical deterioration. FXTAS should be considered in the differential diagnosis of patients presenting with ataxia, even in the absence of tremor, and FMR1 DNA testing should be sought in those with a family history of fragile X syndrome or premutation disorders. MDPI 2020-05-25 /pmc/articles/PMC7277845/ /pubmed/32466255 http://dx.doi.org/10.3390/biomedicines8050136 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Salcedo-Arellano, Maria Jimena
Cabal-Herrera, Ana Maria
Tassanakijpanich, Nattaporn
McLennan, Yingratana A.
Hagerman, Randi J.
Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
title Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
title_full Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
title_fullStr Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
title_full_unstemmed Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
title_short Ataxia as the Major Manifestation of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Case Series
title_sort ataxia as the major manifestation of fragile x-associated tremor/ataxia syndrome (fxtas): case series
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277845/
https://www.ncbi.nlm.nih.gov/pubmed/32466255
http://dx.doi.org/10.3390/biomedicines8050136
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