Dementia in Fragile X-associated Tremor/Ataxia Syndrome

Detalhes bibliográficos
Autor(a) principal: Nitrini,Ricardo
Data de Publicação: 2010
Outros Autores: Gonçalves,Márcia Rúbia R., Capelli,Leonardo P., Barbosa,Egberto Reis, Porto,Cláudia Sellitto, Amaro,Edson, Otto,Paulo Alberto, Vianna-Morgante,Angela M.
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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spelling 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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