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Survival estimates for patients with Machado-Joseph disease (SCA3)

Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data...

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Published in:	Clinical genetics 2007-12, Vol.72 (6), p.543-545
Main Authors:	Kieling, C, Prestes, PR, Saraiva-Pereira, ML, Jardim, LB
Format:	Article
Language:	English
Subjects:	Adolescent Adult Age of Onset Aged Ataxin-3 Biological and medical sciences Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases disease Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans Machado-Joseph Machado-Joseph Disease - genetics Machado-Joseph Disease - mortality Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Nerve Tissue Proteins - genetics Neurology Nuclear Proteins - genetics polyglutamine diseases Repressor Proteins - genetics SCA3 spinocerebellar ataxia survival Survival Rate Trinucleotide Repeat Expansion
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creator	Kieling, C Prestes, PR Saraiva-Pereira, ML Jardim, LB
description	Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data quantifying disease impact on patient survival. We investigated the overall survival of a large series of MJD patients and compared it with the survival of their asymptomatic relatives. A total of 412 affected and 413 unaffected individuals were ascertained from a consecutive sample of 82 families with a molecular diagnosis of MJD. Estimated mean survival time was 63.96 years [95% confidence interval (CI), 62.09–65.83] for the affected group and 78.61 years (95% CI, 74.75–82.47) for the unaffected group (p
doi_str_mv	10.1111/j.1399-0004.2007.00910.x
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There is, however, scarce data quantifying disease impact on patient survival. We investigated the overall survival of a large series of MJD patients and compared it with the survival of their asymptomatic relatives. A total of 412 affected and 413 unaffected individuals were ascertained from a consecutive sample of 82 families with a molecular diagnosis of MJD. Estimated mean survival time was 63.96 years [95% confidence interval (CI), 62.09–65.83] for the affected group and 78.61 years (95% CI, 74.75–82.47) for the unaffected group (p < 0.001). For a subset of 366 patients, mean age at onset was 36.37 years (95% CI, 35.21–37.53) and survival after disease onset was estimated as 21.18 years. Early onset and large CAG length predicted shorter overall survival times. This study presents quantitative data on the impact of MJD on overall survival, a phenomenon that is related to CAG length, age at onset, and year of birth.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2007.00910.x</identifier><identifier>PMID: 17894834</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Age of Onset ; Aged ; Ataxin-3 ; Biological and medical sciences ; Child ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; disease ; Female ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; Machado-Joseph ; Machado-Joseph Disease - genetics ; Machado-Joseph Disease - mortality ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Nerve Tissue Proteins - genetics ; Neurology ; Nuclear Proteins - genetics ; polyglutamine diseases ; Repressor Proteins - genetics ; SCA3 ; spinocerebellar ataxia ; survival ; Survival Rate ; Trinucleotide Repeat Expansion</subject><ispartof>Clinical genetics, 2007-12, Vol.72 (6), p.543-545</ispartof><rights>2007 Blackwell Munksgaard</rights><rights>2008 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4650-5ffe9c57cebaa5eba261ae413f565a58e65bfc2ee9f96d89bf79e480796e82893</citedby><cites>FETCH-LOGICAL-c4650-5ffe9c57cebaa5eba261ae413f565a58e65bfc2ee9f96d89bf79e480796e82893</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19869146$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17894834$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kieling, C</creatorcontrib><creatorcontrib>Prestes, PR</creatorcontrib><creatorcontrib>Saraiva-Pereira, ML</creatorcontrib><creatorcontrib>Jardim, LB</creatorcontrib><title>Survival estimates for patients with Machado-Joseph disease (SCA3)</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data quantifying disease impact on patient survival. We investigated the overall survival of a large series of MJD patients and compared it with the survival of their asymptomatic relatives. A total of 412 affected and 413 unaffected individuals were ascertained from a consecutive sample of 82 families with a molecular diagnosis of MJD. Estimated mean survival time was 63.96 years [95% confidence interval (CI), 62.09–65.83] for the affected group and 78.61 years (95% CI, 74.75–82.47) for the unaffected group (p < 0.001). For a subset of 366 patients, mean age at onset was 36.37 years (95% CI, 35.21–37.53) and survival after disease onset was estimated as 21.18 years. Early onset and large CAG length predicted shorter overall survival times. This study presents quantitative data on the impact of MJD on overall survival, a phenomenon that is related to CAG length, age at onset, and year of birth.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Ataxin-3</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>disease</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Humans</subject><subject>Machado-Joseph</subject><subject>Machado-Joseph Disease - genetics</subject><subject>Machado-Joseph Disease - mortality</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Molecular and cellular biology</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurology</subject><subject>Nuclear Proteins - genetics</subject><subject>polyglutamine diseases</subject><subject>Repressor Proteins - genetics</subject><subject>SCA3</subject><subject>spinocerebellar ataxia</subject><subject>survival</subject><subject>Survival Rate</subject><subject>Trinucleotide Repeat Expansion</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><recordid>eNqNkc1uEzEURi1ERUPhFdBsQLCY1B6Pf67EpozalKqURYuQ2FiOc604TDKpPWnTt6-HRO2yeOFry-ezr44JKRgdszyOF2PGAUpKaT2uKFVjSiGfbV-R0dPBazLKBUpgkh-Stykt8pYrAW_IIVMaas3rEfl2vYl34c62BaY-LG2PqfBdLNa2D7jqU3Ef-nnxw7q5nXXlRZdwPS9mIaFNWHy-bk74l3fkwNs24ft9PSK_zk5vmvPy8ufke3NyWbpaCloK7xGcUA6n1oo8VZJZrBn3QgorNEox9a5CBA9ypmHqFWCtqQKJutLAj8in3b3r2N1ucrtmGZLDtrUr7DbJSC2YUoK9CFZU0IrJAdQ70MUupYjerGN2EB8Mo2YQbRZm8GkGn2YQbf6JNtsc_bB_YzNd4uw5uDebgY97wCZnWx_tyoX0zIGWwGqZua877j60-PDfDZhmcpoXOV7u4iH1uH2K2_jXSJV_2_y-mhj-5wz41U1jJvwRdwSm0g</recordid><startdate>200712</startdate><enddate>200712</enddate><creator>Kieling, C</creator><creator>Prestes, PR</creator><creator>Saraiva-Pereira, ML</creator><creator>Jardim, LB</creator><general>Blackwell Publishing Ltd</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200712</creationdate><title>Survival estimates for patients with Machado-Joseph disease (SCA3)</title><author>Kieling, C ; Prestes, PR ; Saraiva-Pereira, ML ; Jardim, LB</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4650-5ffe9c57cebaa5eba261ae413f565a58e65bfc2ee9f96d89bf79e480796e82893</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Ataxin-3</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>disease</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Humans</topic><topic>Machado-Joseph</topic><topic>Machado-Joseph Disease - genetics</topic><topic>Machado-Joseph Disease - mortality</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Molecular and cellular biology</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neurology</topic><topic>Nuclear Proteins - genetics</topic><topic>polyglutamine diseases</topic><topic>Repressor Proteins - genetics</topic><topic>SCA3</topic><topic>spinocerebellar ataxia</topic><topic>survival</topic><topic>Survival Rate</topic><topic>Trinucleotide Repeat Expansion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kieling, C</creatorcontrib><creatorcontrib>Prestes, PR</creatorcontrib><creatorcontrib>Saraiva-Pereira, ML</creatorcontrib><creatorcontrib>Jardim, LB</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kieling, C</au><au>Prestes, PR</au><au>Saraiva-Pereira, ML</au><au>Jardim, LB</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Survival estimates for patients with Machado-Joseph disease (SCA3)</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2007-12</date><risdate>2007</risdate><volume>72</volume><issue>6</issue><spage>543</spage><epage>545</epage><pages>543-545</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data quantifying disease impact on patient survival. We investigated the overall survival of a large series of MJD patients and compared it with the survival of their asymptomatic relatives. A total of 412 affected and 413 unaffected individuals were ascertained from a consecutive sample of 82 families with a molecular diagnosis of MJD. Estimated mean survival time was 63.96 years [95% confidence interval (CI), 62.09–65.83] for the affected group and 78.61 years (95% CI, 74.75–82.47) for the unaffected group (p < 0.001). For a subset of 366 patients, mean age at onset was 36.37 years (95% CI, 35.21–37.53) and survival after disease onset was estimated as 21.18 years. Early onset and large CAG length predicted shorter overall survival times. 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subjects	Adolescent Adult Age of Onset Aged Ataxin-3 Biological and medical sciences Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases disease Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans Machado-Joseph Machado-Joseph Disease - genetics Machado-Joseph Disease - mortality Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Nerve Tissue Proteins - genetics Neurology Nuclear Proteins - genetics polyglutamine diseases Repressor Proteins - genetics SCA3 spinocerebellar ataxia survival Survival Rate Trinucleotide Repeat Expansion
title	Survival estimates for patients with Machado-Joseph disease (SCA3)
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