Huntington's disease in Greece: the experience of 14 years
Panas M, Karadima G, Vassos E, Kalfakis N, Kladi A, Christodoulou K, Vassilopoulos D. Huntington's disease in Greece: the experience of 14 years. A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagn...
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| Veröffentlicht in: | Clinical genetics 2011-12, Vol.80 (6), p.586-590 |
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| creator | Panas, M Karadima, G Vassos, E Kalfakis, N Kladi, A Christodoulou, K Vassilopoulos, D |
| description | Panas M, Karadima G, Vassos E, Kalfakis N, Kladi A, Christodoulou K, Vassilopoulos D. Huntington's disease in Greece: the experience of 14 years.
A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false‐positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process. |
| doi_str_mv | 10.1111/j.1399-0004.2010.01603.x |
| format | Article |
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A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false‐positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2010.01603.x</identifier><identifier>PMID: 21166788</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Child ; Child, Preschool ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Epidemiology ; Female ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetic Predisposition to Disease ; Genetic Testing - statistics & numerical data ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Greece ; Greece - epidemiology ; Humans ; Huntington Disease - diagnosis ; Huntington Disease - epidemiology ; Huntington Disease - genetics ; Huntington's disease ; Huntingtons disease ; Incidence ; Infant ; Male ; Medical genetics ; Medical sciences ; Middle Aged ; Molecular and cellular biology ; Nerve Tissue Proteins - genetics ; neurogenetic ; Neurology ; Pedigree ; population ; Pregnancy ; Prenatal Diagnosis ; Prevalence ; Prospective Studies ; Young Adult</subject><ispartof>Clinical genetics, 2011-12, Vol.80 (6), p.586-590</ispartof><rights>2010 John Wiley & Sons A/S</rights><rights>2015 INIST-CNRS</rights><rights>2010 John Wiley & Sons A/S.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4633-ebb71430f8e50140f264f02844d240c060706e32a1e9ed9875f6ec060343d8cb3</citedby><cites>FETCH-LOGICAL-c4633-ebb71430f8e50140f264f02844d240c060706e32a1e9ed9875f6ec060343d8cb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1399-0004.2010.01603.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2010.01603.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24708329$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21166788$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Panas, M</creatorcontrib><creatorcontrib>Karadima, G</creatorcontrib><creatorcontrib>Vassos, E</creatorcontrib><creatorcontrib>Kalfakis, N</creatorcontrib><creatorcontrib>Kladi, A</creatorcontrib><creatorcontrib>Christodoulou, K</creatorcontrib><creatorcontrib>Vassilopoulos, D</creatorcontrib><title>Huntington's disease in Greece: the experience of 14 years</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>Panas M, Karadima G, Vassos E, Kalfakis N, Kladi A, Christodoulou K, Vassilopoulos D. Huntington's disease in Greece: the experience of 14 years.
A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false‐positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic Testing - statistics & numerical data</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Greece</subject><subject>Greece - epidemiology</subject><subject>Humans</subject><subject>Huntington Disease - diagnosis</subject><subject>Huntington Disease - epidemiology</subject><subject>Huntington Disease - genetics</subject><subject>Huntington's disease</subject><subject>Huntingtons disease</subject><subject>Incidence</subject><subject>Infant</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>neurogenetic</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>population</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Prevalence</subject><subject>Prospective Studies</subject><subject>Young Adult</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkVFv0zAQxy0EYmXsKyALCe0p5Rw7jj2JB1RtGdK0DQnE3izXuYBLmhQ70dpvj0NLkXiaX853_v1Pd38TQhnMWTrvV3PGtc4AQMxzSFVgEvh8-4zMjg_PySwFnWkm-Ql5FeMqpbws9EtykjMmZanUjFxcj93gu-9D351HWvuINiL1Ha0CosMLOvxAitsNBo-dQ9o3lAm6Qxvia_KisW3Es0M8JV-vLr8srrObu-rT4uNN5oTkPMPlsmSCQ6OwACagyaVoIFdC1LkABxJKkMhzy1BjrVVZNBKnMhe8Vm7JT8n5vu8m9L9GjINZ--iwbW2H_RiNTssLpoEn8u1_5KofQ5eGS1DaPW1dJEjtIRf6GAM2ZhP82oadYWAmd83KTCaayUQzuWv-uGu2Sfrm0H9crrE-Cv_amYB3B8BGZ9sm2M75-I8TJSie68R92HOPvsXdkwcwi-pyuiV9ttf7OOD2qLfhp5Fl-mPz7bYyAor76uGzMgv-G_q0oC8</recordid><startdate>201112</startdate><enddate>201112</enddate><creator>Panas, M</creator><creator>Karadima, G</creator><creator>Vassos, E</creator><creator>Kalfakis, N</creator><creator>Kladi, A</creator><creator>Christodoulou, K</creator><creator>Vassilopoulos, D</creator><general>Blackwell Publishing Ltd</general><general>Wiley-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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201112</creationdate><title>Huntington's disease in Greece: the experience of 14 years</title><author>Panas, M ; Karadima, G ; Vassos, E ; Kalfakis, N ; Kladi, A ; Christodoulou, K ; Vassilopoulos, D</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4633-ebb71430f8e50140f264f02844d240c060706e32a1e9ed9875f6ec060343d8cb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Epidemiology</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic Testing - statistics & numerical data</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Greece</topic><topic>Greece - epidemiology</topic><topic>Humans</topic><topic>Huntington Disease - diagnosis</topic><topic>Huntington Disease - epidemiology</topic><topic>Huntington Disease - genetics</topic><topic>Huntington's disease</topic><topic>Huntingtons disease</topic><topic>Incidence</topic><topic>Infant</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>neurogenetic</topic><topic>Neurology</topic><topic>Pedigree</topic><topic>population</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Prevalence</topic><topic>Prospective Studies</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Panas, M</creatorcontrib><creatorcontrib>Karadima, G</creatorcontrib><creatorcontrib>Vassos, E</creatorcontrib><creatorcontrib>Kalfakis, N</creatorcontrib><creatorcontrib>Kladi, A</creatorcontrib><creatorcontrib>Christodoulou, K</creatorcontrib><creatorcontrib>Vassilopoulos, D</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>Neurosciences Abstracts</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>Panas, M</au><au>Karadima, G</au><au>Vassos, E</au><au>Kalfakis, N</au><au>Kladi, A</au><au>Christodoulou, K</au><au>Vassilopoulos, D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Huntington's disease in Greece: the experience of 14 years</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2011-12</date><risdate>2011</risdate><volume>80</volume><issue>6</issue><spage>586</spage><epage>590</epage><pages>586-590</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Panas M, Karadima G, Vassos E, Kalfakis N, Kladi A, Christodoulou K, Vassilopoulos D. Huntington's disease in Greece: the experience of 14 years.
A large scale genetic and epidemiological study of Huntington's disease (HD) was carried out in Greece from January 1995 to December 2008. Diagnostic testing was carried out in 461 symptomatic individuals, while 256 were tested for presymptomatic purposes. The diagnosis of HD with a CAG expansion ≥36 was confirmed in 278 symptomatic individuals. The prevalence of HD in Greece was estimated at approximately 2.5 to 5.4:100,000, while the mean minimum incidence was estimated at 2.2 to 4.4 per million per year. The molecular diagnosis of HD was confirmed in the majority of patients (84.4%) sent for confirmation. The false‐positive cases 15.6% were characterized by the absence of a family history of HD and the presence of an atypical clinical picture. The uptake of predictive testing for HD was 8.6%. A prenatal test was requested in six pregnancies. The findings of our study do not differ significantly from those of similar studies from other European countries despite the relative genetic isolation of Greece. Of interest is the identification of clusters of HD in Greece. The presence or absence of a family history of HD should be interpreted cautiously, during the diagnostic process.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>21166788</pmid><doi>10.1111/j.1399-0004.2010.01603.x</doi><tpages>5</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Biological and medical sciences Child Child, Preschool Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Epidemiology Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Predisposition to Disease Genetic Testing - statistics & numerical data Genetics Genetics of eukaryotes. Biological and molecular evolution Greece Greece - epidemiology Humans Huntington Disease - diagnosis Huntington Disease - epidemiology Huntington Disease - genetics Huntington's disease Huntingtons disease Incidence Infant Male Medical genetics Medical sciences Middle Aged Molecular and cellular biology Nerve Tissue Proteins - genetics neurogenetic Neurology Pedigree population Pregnancy Prenatal Diagnosis Prevalence Prospective Studies Young Adult |
| title | Huntington's disease in Greece: the experience of 14 years |
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