Dementia in Fragile X-associated Tremor/Ataxia Syndrome
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Dementia & Neuropsychologia |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642010000100079 |
Resumo: | Abstract 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. |
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Dementia & Neuropsychologia |
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Dementia in Fragile X-associated Tremor/Ataxia Syndromefragile Xdementiatremoressencial tremorataxiapremutationAbstract 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.Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento2010-03-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642010000100079Dementia & Neuropsychologia v.4 n.1 2010reponame:Dementia & Neuropsychologiainstname:Associação de Neurologia Cognitiva e do Comportamento (ANCC)instacron:ANCC10.1590/S1980-57642010DN40100014info:eu-repo/semantics/openAccessNitrini,RicardoGonçalves,Márcia Rúbia R.Capelli,Leonardo P.Barbosa,Egberto ReisPorto,Cláudia SellittoAmaro,EdsonOtto,Paulo AlbertoVianna-Morgante,Angela M.eng2016-07-26T00:00:00Zoai:scielo:S1980-57642010000100079Revistahttp://www.demneuropsy.com.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||demneuropsy@uol.com.br1980-57641980-5764opendoar:2016-07-26T00:00Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC)false |
dc.title.none.fl_str_mv |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
title |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
spellingShingle |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome Nitrini,Ricardo fragile X dementia tremor essencial tremor ataxia premutation |
title_short |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
title_full |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
title_fullStr |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
title_full_unstemmed |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
title_sort |
Dementia in Fragile X-associated Tremor/Ataxia Syndrome |
author |
Nitrini,Ricardo |
author_facet |
Nitrini,Ricardo Gonçalves,Márcia Rúbia R. Capelli,Leonardo P. Barbosa,Egberto Reis Porto,Cláudia Sellitto Amaro,Edson Otto,Paulo Alberto Vianna-Morgante,Angela M. |
author_role |
author |
author2 |
Gonçalves,Márcia Rúbia R. Capelli,Leonardo P. Barbosa,Egberto Reis Porto,Cláudia Sellitto Amaro,Edson Otto,Paulo Alberto Vianna-Morgante,Angela M. |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Nitrini,Ricardo Gonçalves,Márcia Rúbia R. Capelli,Leonardo P. Barbosa,Egberto Reis Porto,Cláudia Sellitto Amaro,Edson Otto,Paulo Alberto Vianna-Morgante,Angela M. |
dc.subject.por.fl_str_mv |
fragile X dementia tremor essencial tremor ataxia premutation |
topic |
fragile X dementia tremor essencial tremor ataxia premutation |
description |
Abstract 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. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-03-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642010000100079 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642010000100079 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1980-57642010DN40100014 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia, Departamento de Neurologia Cognitiva e Envelhecimento |
dc.source.none.fl_str_mv |
Dementia & Neuropsychologia v.4 n.1 2010 reponame:Dementia & Neuropsychologia instname:Associação de Neurologia Cognitiva e do Comportamento (ANCC) instacron:ANCC |
instname_str |
Associação de Neurologia Cognitiva e do Comportamento (ANCC) |
instacron_str |
ANCC |
institution |
ANCC |
reponame_str |
Dementia & Neuropsychologia |
collection |
Dementia & Neuropsychologia |
repository.name.fl_str_mv |
Dementia & Neuropsychologia - Associação de Neurologia Cognitiva e do Comportamento (ANCC) |
repository.mail.fl_str_mv |
||demneuropsy@uol.com.br |
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1754212929701412864 |