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Aicardi–Goutières syndrome
Aicardi–Goutières syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-α in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular p...
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| Published in: | Brain & development (Tokyo. 1979) 2005-04, Vol.27 (3), p.201-206 |
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| Main Author: | |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c419t-d1ff80ae9027dd982cceb95c8e0720e79d4a68e32873cfed4b1b0141bb36e1ec3 |
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| cites | cdi_FETCH-LOGICAL-c419t-d1ff80ae9027dd982cceb95c8e0720e79d4a68e32873cfed4b1b0141bb36e1ec3 |
| container_end_page | 206 |
| container_issue | 3 |
| container_start_page | 201 |
| container_title | Brain & development (Tokyo. 1979) |
| container_volume | 27 |
| creator | Goutières, Françoise |
| description | Aicardi–Goutières syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-α in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-α. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder. |
| doi_str_mv | 10.1016/j.braindev.2003.12.011 |
| format | article |
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Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-α. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.</description><identifier>ISSN: 0387-7604</identifier><identifier>EISSN: 1872-7131</identifier><identifier>DOI: 10.1016/j.braindev.2003.12.011</identifier><identifier>PMID: 15737701</identifier><language>eng</language><publisher>Netherlands: Elsevier B.V</publisher><subject>Basal ganglia calcifications ; Basal Ganglia Diseases - cerebrospinal fluid ; Basal Ganglia Diseases - genetics ; Basal Ganglia Diseases - pathology ; Brain - pathology ; Calcinosis - cerebrospinal fluid ; Calcinosis - genetics ; Calcinosis - pathology ; CSF lymphocytosis ; Diagnosis, Differential ; Familial encephalopathy ; Humans ; Infant ; Infant, Newborn ; Interferon-alpha - cerebrospinal fluid ; Interferon-α ; Lymphocytosis - cerebrospinal fluid ; Lymphocytosis - genetics ; Lymphocytosis - pathology ; Necrosis - pathology ; Skin Diseases - cerebrospinal fluid ; Skin Diseases - pathology</subject><ispartof>Brain & development (Tokyo. 1979), 2005-04, Vol.27 (3), p.201-206</ispartof><rights>2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-d1ff80ae9027dd982cceb95c8e0720e79d4a68e32873cfed4b1b0141bb36e1ec3</citedby><cites>FETCH-LOGICAL-c419t-d1ff80ae9027dd982cceb95c8e0720e79d4a68e32873cfed4b1b0141bb36e1ec3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>313,314,780,784,792,27921,27923,27924</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15737701$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Goutières, Françoise</creatorcontrib><title>Aicardi–Goutières syndrome</title><title>Brain & development (Tokyo. 1979)</title><addtitle>Brain Dev</addtitle><description>Aicardi–Goutières syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-α in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-α. A genetic defect in the regulation of its synthesis may be the causal factor of the disorder.</description><subject>Basal ganglia calcifications</subject><subject>Basal Ganglia Diseases - cerebrospinal fluid</subject><subject>Basal Ganglia Diseases - genetics</subject><subject>Basal Ganglia Diseases - pathology</subject><subject>Brain - pathology</subject><subject>Calcinosis - cerebrospinal fluid</subject><subject>Calcinosis - genetics</subject><subject>Calcinosis - pathology</subject><subject>CSF lymphocytosis</subject><subject>Diagnosis, Differential</subject><subject>Familial encephalopathy</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Interferon-alpha - cerebrospinal fluid</subject><subject>Interferon-α</subject><subject>Lymphocytosis - cerebrospinal fluid</subject><subject>Lymphocytosis - genetics</subject><subject>Lymphocytosis - pathology</subject><subject>Necrosis - pathology</subject><subject>Skin Diseases - cerebrospinal fluid</subject><subject>Skin Diseases - pathology</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><recordid>eNqFkEFOwzAQRS0EoqVwBCpW7BJm7DROdlRVKUiV2MDaiu2J5KpJip1U6o47cAnuwU04CalaxJLVbN7_X_MYGyPECJjerWLtC1db2sYcQMTIY0A8YUPMJI8kCjxlQxCZjGQKyYBdhLACAOQI52yAEymkBByy66kzhbfu-_1j0XSt-_r0FG7Crra-qeiSnZXFOtDV8Y7Y68P8ZfYYLZ8XT7PpMjIJ5m1ksSwzKCgHLq3NM24M6XxiMgLJgWRukyLNSPBMClOSTTRqwAS1FikhGTFit4fejW_eOgqtqlwwtF4XNTVdUKlMJCYT3oPpATS-CcFTqTbeVYXfKQS1F6NW6leM2otRyFUvpg-Ojwudrsj-xY4meuD-AFD_59aRV8E4qg1Z58m0yjbuv40f57d4iQ</recordid><startdate>20050401</startdate><enddate>20050401</enddate><creator>Goutières, Françoise</creator><general>Elsevier B.V</general><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>7X8</scope><scope>8BM</scope></search><sort><creationdate>20050401</creationdate><title>Aicardi–Goutières syndrome</title><author>Goutières, Françoise</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-d1ff80ae9027dd982cceb95c8e0720e79d4a68e32873cfed4b1b0141bb36e1ec3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Basal ganglia calcifications</topic><topic>Basal Ganglia Diseases - cerebrospinal fluid</topic><topic>Basal Ganglia Diseases - genetics</topic><topic>Basal Ganglia Diseases - pathology</topic><topic>Brain - pathology</topic><topic>Calcinosis - cerebrospinal fluid</topic><topic>Calcinosis - genetics</topic><topic>Calcinosis - pathology</topic><topic>CSF lymphocytosis</topic><topic>Diagnosis, Differential</topic><topic>Familial encephalopathy</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Interferon-alpha - cerebrospinal fluid</topic><topic>Interferon-α</topic><topic>Lymphocytosis - cerebrospinal fluid</topic><topic>Lymphocytosis - genetics</topic><topic>Lymphocytosis - pathology</topic><topic>Necrosis - pathology</topic><topic>Skin Diseases - cerebrospinal fluid</topic><topic>Skin Diseases - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Goutières, Françoise</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Goutières, Françoise</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Aicardi–Goutières syndrome</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2005-04-01</date><risdate>2005</risdate><volume>27</volume><issue>3</issue><spage>201</spage><epage>206</epage><pages>201-206</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>Aicardi–Goutières syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-α in CSF. 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| fulltext | fulltext |
| identifier | ISSN: 0387-7604 |
| ispartof | Brain & development (Tokyo. 1979), 2005-04, Vol.27 (3), p.201-206 |
| issn | 0387-7604 1872-7131 |
| language | eng |
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| source | Elsevier |
| subjects | Basal ganglia calcifications Basal Ganglia Diseases - cerebrospinal fluid Basal Ganglia Diseases - genetics Basal Ganglia Diseases - pathology Brain - pathology Calcinosis - cerebrospinal fluid Calcinosis - genetics Calcinosis - pathology CSF lymphocytosis Diagnosis, Differential Familial encephalopathy Humans Infant Infant, Newborn Interferon-alpha - cerebrospinal fluid Interferon-α Lymphocytosis - cerebrospinal fluid Lymphocytosis - genetics Lymphocytosis - pathology Necrosis - pathology Skin Diseases - cerebrospinal fluid Skin Diseases - pathology |
| title | Aicardi–Goutières syndrome |
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