Dementia in Fragile X-associated Tremor/Ataxia Syndrome
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| Formato: | Artículo científico |
| Lenguaje: | en |
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Associação Neurologia Cognitiva e do Comportamento
2010
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| author | Ricard Nitrini |
| author_facet | Ricard Nitrini |
| contents | Dementia in Fragile X-associated Tremor/Ataxia Syndrome Ricard Nitrini Márcia Rúbia R. Gonçalves Leonardo P. Capelli Egberto Reis Barbosa Cláudia Sellitto Porto Edson Amaro Paulo Alberto Otto Angela M. Vianna-Morgante Medicina tremor ataxia dementia Fragile X premutatio Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient’s grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition. 2010 artículo científico 1980-5764 https://www.redalyc.org/articulo.oa?id=339529016010 en http://www.redalyc.org/revista.oa?id=3395 Dementia & Neuropsychologia application/pdf Associação Neurologia Cognitiva e do Comportamento Dementia & Neuropsychologia (Brasil) Num.1 Vol.4 |
| format | Artículo científico |
| id | redalyc_339529016010 |
| institution | Redalyc |
| language | en |
| publishDate | 2010 |
| publisher | Associação Neurologia Cognitiva e do Comportamento |
| spellingShingle | Dementia in Fragile X-associated Tremor/Ataxia Syndrome Ricard Nitrini Medicina tremor ataxia dementia Fragile X premutatio Dementia in Fragile X-associated Tremor/Ataxia Syndrome Ricard Nitrini Márcia Rúbia R. Gonçalves Leonardo P. Capelli Egberto Reis Barbosa Cláudia Sellitto Porto Edson Amaro Paulo Alberto Otto Angela M. Vianna-Morgante Medicina tremor ataxia dementia Fragile X premutatio Fragile X-associated tremor/ataxia syndrome (FXTAS) is a cause of movement disorders and cognitive decline which has probably been underdiagnosed, especially if its prevalence proves similar to those of progressive supranuclear palsy and amyotrophic lateral sclerosis. We report a case of a 74-year-old man who presented with action tremor, gait ataxia and forgetfulness. There was a family history of tremor and dementia, and one of the patient’s grandsons was mentally deficient. Neuropsychological evaluation disclosed a frontal network syndrome. MRI showed hyperintensity of both middle cerebellar peduncles, a major diagnostic hallmark of FXTAS. Genetic testing revealed premutation of the FMR1 gene with an expanded (CGG)90 repeat. The diagnosis of FXTAS is important for genetic counseling because the daughters of the affected individuals are at high risk of having offspring with fragile X syndrome. Tremors and cognitive decline should raise the diagnostic hypothesis of FXTAS, which MRI may subsequently reinforce, while the detection of the FMR1 premutation can confirm the condition. 2010 artículo científico 1980-5764 https://www.redalyc.org/articulo.oa?id=339529016010 en http://www.redalyc.org/revista.oa?id=3395 Dementia & Neuropsychologia application/pdf Associação Neurologia Cognitiva e do Comportamento Dementia & Neuropsychologia (Brasil) Num.1 Vol.4 |
| title | Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
| topic | Medicina tremor ataxia dementia Fragile X premutatio |
| url | https://www.redalyc.org/articulo.oa?id=339529016010 |