Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.1186/1745-0179-2-1 |
Resumo: | Background: Huntington's disease (HD) is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-like symptoms occur in 6% to 25% of cases. Case report: We describe a 55 year-old woman with an 8 yearlong history of behavioural changes, multi-thematic delusions and auditory hallucinations. History and mental state examination were suggestive of paranoid schizophrenia. Neurological examination revealed discrete, involuntary movements affecting her arms and trunk. Genotyping detected an expanded allele (43 trinucleoticle repeats). A three-generation-long family history of chorea and schizophrenia-like psychosis was found. Conclusion: HD-families have been reported in which schizophrenia-like syndromes emerged in all or most HD-affected members long before they developed extra-pyramidal or cognitive changes. This has been attributed to more than mere coincidence. We hypothesise that in these families the HD gene is transmitted along with a low load of small-effect "psychosis genes" which, in the presence of the severe cognitive changes of HD, manifest as a schizophrenia-like phenotype. Further research is needed in order to clarify the links between genetic loading and the emergence of psychotic symptoms in Huntington's disease. |
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Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigreeEpidemiologyPsychiatry and Mental healthSDG 3 - Good Health and Well-beingBackground: Huntington's disease (HD) is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-like symptoms occur in 6% to 25% of cases. Case report: We describe a 55 year-old woman with an 8 yearlong history of behavioural changes, multi-thematic delusions and auditory hallucinations. History and mental state examination were suggestive of paranoid schizophrenia. Neurological examination revealed discrete, involuntary movements affecting her arms and trunk. Genotyping detected an expanded allele (43 trinucleoticle repeats). A three-generation-long family history of chorea and schizophrenia-like psychosis was found. Conclusion: HD-families have been reported in which schizophrenia-like syndromes emerged in all or most HD-affected members long before they developed extra-pyramidal or cognitive changes. This has been attributed to more than mere coincidence. We hypothesise that in these families the HD gene is transmitted along with a low load of small-effect "psychosis genes" which, in the presence of the severe cognitive changes of HD, manifest as a schizophrenia-like phenotype. Further research is needed in order to clarify the links between genetic loading and the emergence of psychotic symptoms in Huntington's disease.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNCorrêa, Bernardo BarahonaXavier, MiguelGuimarães, João2017-10-10T22:05:56Z2006-02-152006-02-15T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://doi.org/10.1186/1745-0179-2-1eng1745-0179PURE: 3158784http://www.scopus.com/inward/record.url?scp=33646413697&partnerID=8YFLogxKhttps://doi.org/10.1186/1745-0179-2-1info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T04:12:25Zoai:run.unl.pt:10362/24040Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:27:57.685446Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree |
title |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree |
spellingShingle |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree Corrêa, Bernardo Barahona Epidemiology Psychiatry and Mental health SDG 3 - Good Health and Well-being |
title_short |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree |
title_full |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree |
title_fullStr |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree |
title_full_unstemmed |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree |
title_sort |
Association of Huntington's disease and schizophrenia-like psychosis in a Huntington's disease pedigree |
author |
Corrêa, Bernardo Barahona |
author_facet |
Corrêa, Bernardo Barahona Xavier, Miguel Guimarães, João |
author_role |
author |
author2 |
Xavier, Miguel Guimarães, João |
author2_role |
author author |
dc.contributor.none.fl_str_mv |
NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) RUN |
dc.contributor.author.fl_str_mv |
Corrêa, Bernardo Barahona Xavier, Miguel Guimarães, João |
dc.subject.por.fl_str_mv |
Epidemiology Psychiatry and Mental health SDG 3 - Good Health and Well-being |
topic |
Epidemiology Psychiatry and Mental health SDG 3 - Good Health and Well-being |
description |
Background: Huntington's disease (HD) is a dominantly inherited, neurodegenerative disorder due to expansion of a polymorphic trinucleotide repeat in the short arm of chromosome 4. Clinical manifestations consist of a triad of choreic movements, cognitive decline and psychiatric syndromes starting in the fourth to fifth decade. Psychiatric manifestations vary and may precede motor and cognitive changes. Personality changes and depression occur most commonly. Paranoid schizophrenia-like symptoms occur in 6% to 25% of cases. Case report: We describe a 55 year-old woman with an 8 yearlong history of behavioural changes, multi-thematic delusions and auditory hallucinations. History and mental state examination were suggestive of paranoid schizophrenia. Neurological examination revealed discrete, involuntary movements affecting her arms and trunk. Genotyping detected an expanded allele (43 trinucleoticle repeats). A three-generation-long family history of chorea and schizophrenia-like psychosis was found. Conclusion: HD-families have been reported in which schizophrenia-like syndromes emerged in all or most HD-affected members long before they developed extra-pyramidal or cognitive changes. This has been attributed to more than mere coincidence. We hypothesise that in these families the HD gene is transmitted along with a low load of small-effect "psychosis genes" which, in the presence of the severe cognitive changes of HD, manifest as a schizophrenia-like phenotype. Further research is needed in order to clarify the links between genetic loading and the emergence of psychotic symptoms in Huntington's disease. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-02-15 2006-02-15T00:00:00Z 2017-10-10T22:05:56Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://doi.org/10.1186/1745-0179-2-1 |
url |
https://doi.org/10.1186/1745-0179-2-1 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
1745-0179 PURE: 3158784 http://www.scopus.com/inward/record.url?scp=33646413697&partnerID=8YFLogxK https://doi.org/10.1186/1745-0179-2-1 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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