Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions
Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine...
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| Veröffentlicht in: | Human molecular genetics 1998-05, Vol.7 (5), p.913-918 |
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| creator | Holmberg, Monica Duyckaerts, Charles Dürr, Alexandra Cancel, Géraldine Gourfinkel-An, Isabelle Damier, Philippe Faucheux, Baptiste Trottier, Yvon Hirsch, Etienne C. Agid, Yves Brice, Alexis |
| description | Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from |
| doi_str_mv | 10.1093/hmg/7.5.913 |
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Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from <1% in the cerebral cortex to 60% in the inferior olive. In addition, we also observed cytoplasmic staining using the 1C2 antibody, particularly in the supramarginal gyrus, the hippocampus, the thalamus, the lateral geniculate body and the pontine nuclei. These data confirm that the presence of intranuclear inclusions in neurons is a common characteristic of disorders caused by CAG/polyglutamine expansions, but unlike what has been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the inclusions were not restricted to the sites of severe neuronal loss.</description><identifier>ISSN: 0964-6906</identifier><identifier>ISSN: 1460-2083</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/7.5.913</identifier><identifier>PMID: 9536097</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Ataxin-7 ; Biological and medical sciences ; Brain - pathology ; Cell Nucleus - chemistry ; Cell Nucleus - pathology ; Child ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Glutamine - genetics ; Glutamine - metabolism ; Humans ; Immunohistochemistry ; Inclusion Bodies - chemistry ; Inclusion Bodies - pathology ; Life Sciences ; Male ; Medical sciences ; Nerve Tissue Proteins - genetics ; Neurology ; Neurons - chemistry ; Neurons - pathology ; Neurons and Cognition ; Neuropeptides - analysis ; Nuclear Proteins - analysis ; Spinocerebellar Degenerations - pathology</subject><ispartof>Human molecular genetics, 1998-05, Vol.7 (5), p.913-918</ispartof><rights>1998 INIST-CNRS</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c453t-af422b999a7baa8b67c6595fded21d5b926d92507dd14454573140a14fa06d0d3</citedby><orcidid>0000-0002-0941-3990 ; 0000-0002-8921-7104 ; 0000-0003-3869-0564</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2223757$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9536097$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-03503665$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Holmberg, Monica</creatorcontrib><creatorcontrib>Duyckaerts, Charles</creatorcontrib><creatorcontrib>Dürr, Alexandra</creatorcontrib><creatorcontrib>Cancel, Géraldine</creatorcontrib><creatorcontrib>Gourfinkel-An, Isabelle</creatorcontrib><creatorcontrib>Damier, Philippe</creatorcontrib><creatorcontrib>Faucheux, Baptiste</creatorcontrib><creatorcontrib>Trottier, Yvon</creatorcontrib><creatorcontrib>Hirsch, Etienne C.</creatorcontrib><creatorcontrib>Agid, Yves</creatorcontrib><creatorcontrib>Brice, Alexis</creatorcontrib><title>Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions</title><title>Human molecular genetics</title><addtitle>Human Molecular Genetics</addtitle><description>Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from <1% in the cerebral cortex to 60% in the inferior olive. In addition, we also observed cytoplasmic staining using the 1C2 antibody, particularly in the supramarginal gyrus, the hippocampus, the thalamus, the lateral geniculate body and the pontine nuclei. These data confirm that the presence of intranuclear inclusions in neurons is a common characteristic of disorders caused by CAG/polyglutamine expansions, but unlike what has been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the inclusions were not restricted to the sites of severe neuronal loss.</description><subject>Ataxin-7</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Cell Nucleus - chemistry</subject><subject>Cell Nucleus - pathology</subject><subject>Child</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Glutamine - genetics</subject><subject>Glutamine - metabolism</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Inclusion Bodies - chemistry</subject><subject>Inclusion Bodies - pathology</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Neurology</subject><subject>Neurons - chemistry</subject><subject>Neurons - pathology</subject><subject>Neurons and Cognition</subject><subject>Neuropeptides - analysis</subject><subject>Nuclear Proteins - analysis</subject><subject>Spinocerebellar Degenerations - pathology</subject><issn>0964-6906</issn><issn>1460-2083</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0c1r2zAYBnAxVrq022nngQ5jtBSnkvUV9WayjwRCd2jHyi7itSU32hw7k-zS_veTcch1J4OeHy_meRB6T8mcEs2ut7vHazUXc03ZKzSjXJIsJwv2Gs2IljyTmsg36CzG34RQyZk6RadaMEm0mqHt3d63XeWCK13TQMBFD88e8P3L3mGFL-6Whbq8wQW-dUPorHt0rQvQ-yeHP_vYBesC_un77ZS30OB12wdoh6px6dq6rZoh-q6Nb9FJDU107w7fc_Tj65f75SrbfP-2XhabrOKC9RnUPM9LrTWoEmBRSlVJoUVtnc2pFaXOpdW5IMpayrngQjHKCVBeA5GWWHaOLqe7W2jMPvgdhBfTgTerYmPGN8IEYVKKJ5rsp8nuQ_d3cLE3Ox-rsYfWdUM0SitNRKr4fzDVSrViI7yaYBW6GIOrj79AiRnHMmkso4wwaaykPxzODuXO2aM9rJPyj4ccYgVNnXqtfDyyPM-ZEiPLJuZj756PMYQ_RqokzOrhl2EPki2o2Jhb9g_9zanR</recordid><startdate>19980501</startdate><enddate>19980501</enddate><creator>Holmberg, Monica</creator><creator>Duyckaerts, Charles</creator><creator>Dürr, Alexandra</creator><creator>Cancel, Géraldine</creator><creator>Gourfinkel-An, Isabelle</creator><creator>Damier, Philippe</creator><creator>Faucheux, Baptiste</creator><creator>Trottier, Yvon</creator><creator>Hirsch, Etienne C.</creator><creator>Agid, Yves</creator><creator>Brice, Alexis</creator><general>Oxford University Press</general><general>Oxford University Press (OUP)</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><scope>1XC</scope><orcidid>https://orcid.org/0000-0002-0941-3990</orcidid><orcidid>https://orcid.org/0000-0002-8921-7104</orcidid><orcidid>https://orcid.org/0000-0003-3869-0564</orcidid></search><sort><creationdate>19980501</creationdate><title>Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions</title><author>Holmberg, Monica ; Duyckaerts, Charles ; Dürr, Alexandra ; Cancel, Géraldine ; Gourfinkel-An, Isabelle ; Damier, Philippe ; Faucheux, Baptiste ; Trottier, Yvon ; Hirsch, Etienne C. ; Agid, Yves ; Brice, Alexis</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c453t-af422b999a7baa8b67c6595fded21d5b926d92507dd14454573140a14fa06d0d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Ataxin-7</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Cell Nucleus - chemistry</topic><topic>Cell Nucleus - pathology</topic><topic>Child</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Glutamine - genetics</topic><topic>Glutamine - metabolism</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Inclusion Bodies - chemistry</topic><topic>Inclusion Bodies - pathology</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Neurology</topic><topic>Neurons - chemistry</topic><topic>Neurons - pathology</topic><topic>Neurons and Cognition</topic><topic>Neuropeptides - analysis</topic><topic>Nuclear Proteins - analysis</topic><topic>Spinocerebellar Degenerations - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Holmberg, Monica</creatorcontrib><creatorcontrib>Duyckaerts, Charles</creatorcontrib><creatorcontrib>Dürr, Alexandra</creatorcontrib><creatorcontrib>Cancel, Géraldine</creatorcontrib><creatorcontrib>Gourfinkel-An, Isabelle</creatorcontrib><creatorcontrib>Damier, Philippe</creatorcontrib><creatorcontrib>Faucheux, Baptiste</creatorcontrib><creatorcontrib>Trottier, Yvon</creatorcontrib><creatorcontrib>Hirsch, Etienne C.</creatorcontrib><creatorcontrib>Agid, Yves</creatorcontrib><creatorcontrib>Brice, Alexis</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><collection>Hyper Article en Ligne (HAL)</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Holmberg, Monica</au><au>Duyckaerts, Charles</au><au>Dürr, Alexandra</au><au>Cancel, Géraldine</au><au>Gourfinkel-An, Isabelle</au><au>Damier, Philippe</au><au>Faucheux, Baptiste</au><au>Trottier, Yvon</au><au>Hirsch, Etienne C.</au><au>Agid, Yves</au><au>Brice, Alexis</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Human Molecular Genetics</addtitle><date>1998-05-01</date><risdate>1998</risdate><volume>7</volume><issue>5</issue><spage>913</spage><epage>918</epage><pages>913-918</pages><issn>0964-6906</issn><issn>1460-2083</issn><eissn>1460-2083</eissn><abstract>Autosomal dominant cerebellar ataxia with progressive macular degeneration is caused by a CAG/glutamine repeat expansion in the SCA7 gene/protein. Neuronal intranuclear inclusions were detected in the brain of an early onset SCA7 case with the 1C2 antibody directed against an expanded polyglutamine domain. Nuclear inclusions were most frequent in the inferior olivary complex, a site of severe neuronal loss in SCA7. They were also observed in other brain regions, including the cerebral cortex, not considered to be affected in the disease. Using confocal microscopy we showed that some inclusions were ubiquitinated, but to varying degrees, ranging from <1% in the cerebral cortex to 60% in the inferior olive. In addition, we also observed cytoplasmic staining using the 1C2 antibody, particularly in the supramarginal gyrus, the hippocampus, the thalamus, the lateral geniculate body and the pontine nuclei. These data confirm that the presence of intranuclear inclusions in neurons is a common characteristic of disorders caused by CAG/polyglutamine expansions, but unlike what has been reported for Huntington's disease, SCA1 and SCA3/MJD, in SCA7 the inclusions were not restricted to the sites of severe neuronal loss.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>9536097</pmid><doi>10.1093/hmg/7.5.913</doi><tpages>6</tpages><orcidid>https://orcid.org/0000-0002-0941-3990</orcidid><orcidid>https://orcid.org/0000-0002-8921-7104</orcidid><orcidid>https://orcid.org/0000-0003-3869-0564</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Ataxin-7 Biological and medical sciences Brain - pathology Cell Nucleus - chemistry Cell Nucleus - pathology Child Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Glutamine - genetics Glutamine - metabolism Humans Immunohistochemistry Inclusion Bodies - chemistry Inclusion Bodies - pathology Life Sciences Male Medical sciences Nerve Tissue Proteins - genetics Neurology Neurons - chemistry Neurons - pathology Neurons and Cognition Neuropeptides - analysis Nuclear Proteins - analysis Spinocerebellar Degenerations - pathology |
| title | Spinocerebellar Ataxia Type 7 (SCA7): A Neurodegenerative Disorder With Neuronal Intranuclear Inclusions |
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