Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism
Aicardi-Goutiéres syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities, and a chronic cerebrospinal fluid (CSF) lymphocytosis. Cree encephalitis shows phenotypic overlap with AGS although the conditions have been...
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| Veröffentlicht in: | Journal of medical genetics 2003-03, Vol.40 (3), p.183-187 |
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| creator | Crow, Y J Black, D N Ali, M Bond, J Jackson, A P Lefson, M Michaud, J Roberts, E Stephenson, J B P Woods, C G Lebon, P |
| description | Aicardi-Goutiéres syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities, and a chronic cerebrospinal fluid (CSF) lymphocytosis. Cree encephalitis shows phenotypic overlap with AGS although the conditions have been considered distinct because of immunological abnormalities observed in Cree encephalitis. We report that levels of interferon alpha (IFN-α), a marker of AGS, are raised in Cree encephalitis. Moreover, linkage analysis indicates that the disorders are allelic and refines the AGS1 locus to a 3.47 cM critical interval. Our data show that a CSF lymphocytosis is not necessary for the diagnosis of AGS and strongly suggest that AGS and pseudo-TORCH syndrome are the same disorder. Recognition of immunological dysfunction as part of the AGS phenotype provides further evidence of a primary pathogenic role for abnormal IFN-α production in AGS. |
| doi_str_mv | 10.1136/jmg.40.3.183 |
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Cree encephalitis shows phenotypic overlap with AGS although the conditions have been considered distinct because of immunological abnormalities observed in Cree encephalitis. We report that levels of interferon alpha (IFN-α), a marker of AGS, are raised in Cree encephalitis. Moreover, linkage analysis indicates that the disorders are allelic and refines the AGS1 locus to a 3.47 cM critical interval. Our data show that a CSF lymphocytosis is not necessary for the diagnosis of AGS and strongly suggest that AGS and pseudo-TORCH syndrome are the same disorder. Recognition of immunological dysfunction as part of the AGS phenotype provides further evidence of a primary pathogenic role for abnormal IFN-α production in AGS.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.40.3.183</identifier><identifier>PMID: 12624136</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - blood ; Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Age ; Aicardi syndrome ; Aicardi-Goutiéres syndrome ; Basal Ganglia Diseases - pathology ; Biological and medical sciences ; Brain Damage, Chronic - pathology ; Calcification ; Calcinosis - pathology ; Child ; Chromosomes, Human, Pair 3 - genetics ; Congenital diseases ; Cree encephalitis ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Disease ; Encephalitis - blood ; Encephalitis - genetics ; Encephalopathy ; Families & family life ; Family Health ; Female ; Genetic aspects ; Genetic Predisposition to Disease - genetics ; Genomes ; Haplotypes ; HIV ; Human immunodeficiency virus ; Humans ; Identification and classification ; Immunology ; Indians, North American ; Infections ; interferon alpha ; Interferon-alpha - blood ; Laboratories ; Lod Score ; Lymphocytosis - cerebrospinal fluid ; Male ; Medical sciences ; Metabolism ; Microsatellite Repeats ; Neurology ; Pathogenesis ; Pedigree ; Phenotype ; pseudo-TORCH syndrome ; Short Report ; Syndrome</subject><ispartof>Journal of medical genetics, 2003-03, Vol.40 (3), p.183-187</ispartof><rights>Copyright 2003 Journal of Medical Genetics</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2003 Copyright 2003 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b610t-6e47b5b0bdd27569ba7143fdcaa2f9409fc6647f961bc173aca83ebc130e28af3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735395/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735395/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14588203$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12624136$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Crow, Y J</creatorcontrib><creatorcontrib>Black, D N</creatorcontrib><creatorcontrib>Ali, M</creatorcontrib><creatorcontrib>Bond, J</creatorcontrib><creatorcontrib>Jackson, A P</creatorcontrib><creatorcontrib>Lefson, M</creatorcontrib><creatorcontrib>Michaud, J</creatorcontrib><creatorcontrib>Roberts, E</creatorcontrib><creatorcontrib>Stephenson, J B P</creatorcontrib><creatorcontrib>Woods, C G</creatorcontrib><creatorcontrib>Lebon, P</creatorcontrib><title>Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Aicardi-Goutiéres syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities, and a chronic cerebrospinal fluid (CSF) lymphocytosis. Cree encephalitis shows phenotypic overlap with AGS although the conditions have been considered distinct because of immunological abnormalities observed in Cree encephalitis. We report that levels of interferon alpha (IFN-α), a marker of AGS, are raised in Cree encephalitis. Moreover, linkage analysis indicates that the disorders are allelic and refines the AGS1 locus to a 3.47 cM critical interval. Our data show that a CSF lymphocytosis is not necessary for the diagnosis of AGS and strongly suggest that AGS and pseudo-TORCH syndrome are the same disorder. Recognition of immunological dysfunction as part of the AGS phenotype provides further evidence of a primary pathogenic role for abnormal IFN-α production in AGS.</description><subject>Abnormalities, Multiple - blood</subject><subject>Abnormalities, Multiple - genetics</subject><subject>Abnormalities, Multiple - pathology</subject><subject>Age</subject><subject>Aicardi syndrome</subject><subject>Aicardi-Goutiéres syndrome</subject><subject>Basal Ganglia Diseases - pathology</subject><subject>Biological and medical sciences</subject><subject>Brain Damage, Chronic - pathology</subject><subject>Calcification</subject><subject>Calcinosis - pathology</subject><subject>Child</subject><subject>Chromosomes, Human, Pair 3 - genetics</subject><subject>Congenital diseases</subject><subject>Cree encephalitis</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Disease</subject><subject>Encephalitis - blood</subject><subject>Encephalitis - genetics</subject><subject>Encephalopathy</subject><subject>Families & family life</subject><subject>Family Health</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>HIV</subject><subject>Human immunodeficiency virus</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Immunology</subject><subject>Indians, North American</subject><subject>Infections</subject><subject>interferon alpha</subject><subject>Interferon-alpha - blood</subject><subject>Laboratories</subject><subject>Lod Score</subject><subject>Lymphocytosis - cerebrospinal fluid</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolism</subject><subject>Microsatellite Repeats</subject><subject>Neurology</subject><subject>Pathogenesis</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>pseudo-TORCH syndrome</subject><subject>Short Report</subject><subject>Syndrome</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9ksuO0zAUhiMEYsrAjjWKGAEbUuw4cRIWSKWFgjQCCQ1sLcc5bl0Su9guMO_Ai_AcvBintOoMqEK25Nvn_1z0J8l9SsaUMv5sNSzGBRmzMa3ZjWREC15nPC-Km8mIkDzP8rJhJ8mdEFaEUFZRfjs5oTkS-HmU_Jh6gBSsgvVS9iaakOKUfQ-9Uek3E5fpxCjpO5PN3SaaXz89hDRc2s67AZ6nZlgjKKNxNqTa-TQuIV3LuHQLsBBQy-m0M8H5Dvyfg7ERvAbvLIbBoOkAUbauN2G4m9zSsg9wb7-eJh9fv7qYvsnO38_fTifnWcspiRmHomrLlrRdl1clb1pZ0YLpTkmZ66YgjVacF5VuOG0VrZhUsmaAW0Ygr6Vmp8mLne560w7QKbDRy16svRmkvxROGvH3izVLsXBfBYqVrClR4PFewLsvGwhRDCYo6HtpwW2CqBipclrUCJ79A67cxlssDrVqmhPGaoLUwx21kD0IY7XDqGorKSZNk9dNzRuEnh6Btl3GDJ0FbfD6Op4dwXF0MBh1jN_LK-9C8KAP7aBEbI0m0GiiIIIJNBriD6638AreOwuBR3tABiV77aVVJlxxRVnX2_IPeZoQ4fvhXfrPglesKsW7T1Mxm83mLxn9IC6Qf7Lj22H1_xR_A-Rm-p4</recordid><startdate>20030301</startdate><enddate>20030301</enddate><creator>Crow, Y J</creator><creator>Black, D N</creator><creator>Ali, M</creator><creator>Bond, J</creator><creator>Jackson, A P</creator><creator>Lefson, M</creator><creator>Michaud, J</creator><creator>Roberts, E</creator><creator>Stephenson, J B P</creator><creator>Woods, C G</creator><creator>Lebon, P</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQGLB</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20030301</creationdate><title>Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism</title><author>Crow, Y J ; Black, D N ; Ali, M ; Bond, J ; Jackson, A P ; Lefson, M ; Michaud, J ; Roberts, E ; Stephenson, J B P ; Woods, C G ; Lebon, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b610t-6e47b5b0bdd27569ba7143fdcaa2f9409fc6647f961bc173aca83ebc130e28af3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Abnormalities, Multiple - blood</topic><topic>Abnormalities, Multiple - genetics</topic><topic>Abnormalities, Multiple - pathology</topic><topic>Age</topic><topic>Aicardi syndrome</topic><topic>Aicardi-Goutiéres syndrome</topic><topic>Basal Ganglia Diseases - pathology</topic><topic>Biological and medical sciences</topic><topic>Brain Damage, Chronic - pathology</topic><topic>Calcification</topic><topic>Calcinosis - pathology</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 3 - genetics</topic><topic>Congenital diseases</topic><topic>Cree encephalitis</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Crow, Y J</au><au>Black, D N</au><au>Ali, M</au><au>Bond, J</au><au>Jackson, A P</au><au>Lefson, M</au><au>Michaud, J</au><au>Roberts, E</au><au>Stephenson, J B P</au><au>Woods, C G</au><au>Lebon, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2003-03-01</date><risdate>2003</risdate><volume>40</volume><issue>3</issue><spage>183</spage><epage>187</epage><pages>183-187</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Aicardi-Goutiéres syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities, and a chronic cerebrospinal fluid (CSF) lymphocytosis. Cree encephalitis shows phenotypic overlap with AGS although the conditions have been considered distinct because of immunological abnormalities observed in Cree encephalitis. We report that levels of interferon alpha (IFN-α), a marker of AGS, are raised in Cree encephalitis. Moreover, linkage analysis indicates that the disorders are allelic and refines the AGS1 locus to a 3.47 cM critical interval. Our data show that a CSF lymphocytosis is not necessary for the diagnosis of AGS and strongly suggest that AGS and pseudo-TORCH syndrome are the same disorder. Recognition of immunological dysfunction as part of the AGS phenotype provides further evidence of a primary pathogenic role for abnormal IFN-α production in AGS.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>12624136</pmid><doi>10.1136/jmg.40.3.183</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - blood Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Age Aicardi syndrome Aicardi-Goutiéres syndrome Basal Ganglia Diseases - pathology Biological and medical sciences Brain Damage, Chronic - pathology Calcification Calcinosis - pathology Child Chromosomes, Human, Pair 3 - genetics Congenital diseases Cree encephalitis Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Encephalitis - blood Encephalitis - genetics Encephalopathy Families & family life Family Health Female Genetic aspects Genetic Predisposition to Disease - genetics Genomes Haplotypes HIV Human immunodeficiency virus Humans Identification and classification Immunology Indians, North American Infections interferon alpha Interferon-alpha - blood Laboratories Lod Score Lymphocytosis - cerebrospinal fluid Male Medical sciences Metabolism Microsatellite Repeats Neurology Pathogenesis Pedigree Phenotype pseudo-TORCH syndrome Short Report Syndrome |
| title | Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism |
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