Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment
Huntington's disease is an autosomal dominant brain disease. Although conceptualized as a neurodegenerative disease of the striatum, a growing number of studies challenge this classic concept of Huntington's disease aetiology. Intracranial volume is the tissue and fluid within the calvariu...
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| Veröffentlicht in: | Brain (London, England : 1878) England : 1878), 2011-01, Vol.134 (Pt 1), p.137-142 |
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| creator | NOPOULOS, Peggy C AYLWARD, Elizabeth H BARKER, Roger A PAULSEN, Jane S ROSS, Christopher A MILLS, James A LANGBEHN, Douglas R JOHNSON, Hans J MAGNOTTA, Vincent A PIERSON, Ronald K BEGLINGER, Leigh J NANCE, Martha A |
| description | Huntington's disease is an autosomal dominant brain disease. Although conceptualized as a neurodegenerative disease of the striatum, a growing number of studies challenge this classic concept of Huntington's disease aetiology. Intracranial volume is the tissue and fluid within the calvarium and is a representation of the maximal brain growth obtained during development. The current study reports intracranial volume obtained from an magnetic resonance imaging brain scan in a sample of subjects (n = 707) who have undergone presymptomatic gene testing. Participants who are gene-expanded but not yet manifesting the disease (prodromal Huntington's disease) are compared with subjects who are non-gene expanded. The prodromal males had significantly smaller intracranial volume measures with a mean volume that was 4% lower compared with controls. Although the prodromal females had smaller intracranial volume measures compared with their controls, this was not significant. The current findings suggest that mutant huntingtin can cause abnormal development, which may contribute to the pathogenesis of Huntington's disease. |
| doi_str_mv | 10.1093/brain/awq280 |
| format | Article |
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Although conceptualized as a neurodegenerative disease of the striatum, a growing number of studies challenge this classic concept of Huntington's disease aetiology. Intracranial volume is the tissue and fluid within the calvarium and is a representation of the maximal brain growth obtained during development. The current study reports intracranial volume obtained from an magnetic resonance imaging brain scan in a sample of subjects (n = 707) who have undergone presymptomatic gene testing. Participants who are gene-expanded but not yet manifesting the disease (prodromal Huntington's disease) are compared with subjects who are non-gene expanded. The prodromal males had significantly smaller intracranial volume measures with a mean volume that was 4% lower compared with controls. Although the prodromal females had smaller intracranial volume measures compared with their controls, this was not significant. The current findings suggest that mutant huntingtin can cause abnormal development, which may contribute to the pathogenesis of Huntington's disease.</description><identifier>ISSN: 0006-8950</identifier><identifier>EISSN: 1460-2156</identifier><identifier>DOI: 10.1093/brain/awq280</identifier><identifier>PMID: 20923788</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adult ; Aged ; Analysis of Variance ; Biological and medical sciences ; Brain - pathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Humans ; Huntington Disease - genetics ; Huntington Disease - pathology ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Middle Aged ; Neurology ; Organ Size ; Original ; Trinucleotide Repeats - genetics</subject><ispartof>Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.137-142</ispartof><rights>2015 INIST-CNRS</rights><rights>The Author (2010). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c477t-69423e2fca13dbdf6d90b71adfe576c39e325718e8aa484655ac83f118231dd33</citedby><cites>FETCH-LOGICAL-c477t-69423e2fca13dbdf6d90b71adfe576c39e325718e8aa484655ac83f118231dd33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24294741$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20923788$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>NOPOULOS, Peggy C</creatorcontrib><creatorcontrib>AYLWARD, Elizabeth H</creatorcontrib><creatorcontrib>BARKER, Roger A</creatorcontrib><creatorcontrib>PAULSEN, Jane S</creatorcontrib><creatorcontrib>ROSS, Christopher A</creatorcontrib><creatorcontrib>MILLS, James A</creatorcontrib><creatorcontrib>LANGBEHN, Douglas R</creatorcontrib><creatorcontrib>JOHNSON, Hans J</creatorcontrib><creatorcontrib>MAGNOTTA, Vincent A</creatorcontrib><creatorcontrib>PIERSON, Ronald K</creatorcontrib><creatorcontrib>BEGLINGER, Leigh J</creatorcontrib><creatorcontrib>NANCE, Martha A</creatorcontrib><creatorcontrib>PREDICT-HD Investigators and Coordinators of the Huntington Study Group</creatorcontrib><creatorcontrib>the PREDICT-HD Investigators and Coordinators of the Huntington Study Group</creatorcontrib><title>Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment</title><title>Brain (London, England : 1878)</title><addtitle>Brain</addtitle><description>Huntington's disease is an autosomal dominant brain disease. Although conceptualized as a neurodegenerative disease of the striatum, a growing number of studies challenge this classic concept of Huntington's disease aetiology. Intracranial volume is the tissue and fluid within the calvarium and is a representation of the maximal brain growth obtained during development. The current study reports intracranial volume obtained from an magnetic resonance imaging brain scan in a sample of subjects (n = 707) who have undergone presymptomatic gene testing. Participants who are gene-expanded but not yet manifesting the disease (prodromal Huntington's disease) are compared with subjects who are non-gene expanded. The prodromal males had significantly smaller intracranial volume measures with a mean volume that was 4% lower compared with controls. Although the prodromal females had smaller intracranial volume measures compared with their controls, this was not significant. The current findings suggest that mutant huntingtin can cause abnormal development, which may contribute to the pathogenesis of Huntington's disease.</description><subject>Adult</subject><subject>Aged</subject><subject>Analysis of Variance</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Humans</subject><subject>Huntington Disease - genetics</subject><subject>Huntington Disease - pathology</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Organ Size</subject><subject>Original</subject><subject>Trinucleotide Repeats - genetics</subject><issn>0006-8950</issn><issn>1460-2156</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0c9rFDEUB_Agil2rN88yF-nFsfk1mcSDIEWtUPCgnsOb5E2NZJJtMrPif-9sd6160lMg-bwveXwJecroS0aNOB8KhHQO32-4pvfIhklFW846dZ9sKKWq1aajJ-RRrd8oZVJw9ZCccGq46LXeEPw0QYxYmpDmAq5AChCbXY7LhOtdsy3Zl7ya5nJJc0jXc05ntfGhIlR81eAueEwOmzGXBoaUy94mXNY53GHM2wnT_Jg8GCFWfHI8T8mXd28_X1y2Vx_ff7h4c9U62fdzq4zkAvnogAk_-FF5Q4eegR-x65UTBgXveqZRA0gtVdeB02JkTHPBvBfilLw-5G6XYULvcL9UtNsSJig_bIZg_35J4au9zjsr6D7YrAFnx4CSbxass51CdRgjJMxLtbpTveqE_l_JtP63FKZn0tzKFwfpSq614Hj3c0btvmx7W7Y9lL3yZ39ue4d_tbuC50cA1UEc13ZdqL-d5Eb2komfggG22Q</recordid><startdate>20110101</startdate><enddate>20110101</enddate><creator>NOPOULOS, Peggy C</creator><creator>AYLWARD, Elizabeth H</creator><creator>BARKER, Roger A</creator><creator>PAULSEN, Jane S</creator><creator>ROSS, Christopher A</creator><creator>MILLS, James A</creator><creator>LANGBEHN, Douglas R</creator><creator>JOHNSON, Hans J</creator><creator>MAGNOTTA, Vincent A</creator><creator>PIERSON, Ronald K</creator><creator>BEGLINGER, Leigh J</creator><creator>NANCE, Martha A</creator><general>Oxford University Press</general><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>7X8</scope><scope>7TK</scope><scope>5PM</scope></search><sort><creationdate>20110101</creationdate><title>Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment</title><author>NOPOULOS, Peggy C ; AYLWARD, Elizabeth H ; BARKER, Roger A ; PAULSEN, Jane S ; ROSS, Christopher A ; MILLS, James A ; LANGBEHN, Douglas R ; JOHNSON, Hans J ; MAGNOTTA, Vincent A ; PIERSON, Ronald K ; BEGLINGER, Leigh J ; NANCE, Martha A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c477t-69423e2fca13dbdf6d90b71adfe576c39e325718e8aa484655ac83f118231dd33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Analysis of Variance</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Humans</topic><topic>Huntington Disease - genetics</topic><topic>Huntington Disease - pathology</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>Organ Size</topic><topic>Original</topic><topic>Trinucleotide Repeats - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>NOPOULOS, Peggy C</creatorcontrib><creatorcontrib>AYLWARD, Elizabeth H</creatorcontrib><creatorcontrib>BARKER, Roger A</creatorcontrib><creatorcontrib>PAULSEN, Jane S</creatorcontrib><creatorcontrib>ROSS, Christopher A</creatorcontrib><creatorcontrib>MILLS, James A</creatorcontrib><creatorcontrib>LANGBEHN, Douglas R</creatorcontrib><creatorcontrib>JOHNSON, Hans J</creatorcontrib><creatorcontrib>MAGNOTTA, Vincent A</creatorcontrib><creatorcontrib>PIERSON, Ronald K</creatorcontrib><creatorcontrib>BEGLINGER, Leigh J</creatorcontrib><creatorcontrib>NANCE, Martha A</creatorcontrib><creatorcontrib>PREDICT-HD Investigators and Coordinators of the Huntington Study Group</creatorcontrib><creatorcontrib>the PREDICT-HD Investigators and Coordinators of the Huntington Study Group</creatorcontrib><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>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Brain (London, England : 1878)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>NOPOULOS, Peggy C</au><au>AYLWARD, Elizabeth H</au><au>BARKER, Roger A</au><au>PAULSEN, Jane S</au><au>ROSS, Christopher A</au><au>MILLS, James A</au><au>LANGBEHN, Douglas R</au><au>JOHNSON, Hans J</au><au>MAGNOTTA, Vincent A</au><au>PIERSON, Ronald K</au><au>BEGLINGER, Leigh J</au><au>NANCE, Martha A</au><aucorp>PREDICT-HD Investigators and Coordinators of the Huntington Study Group</aucorp><aucorp>the PREDICT-HD Investigators and Coordinators of the Huntington Study Group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment</atitle><jtitle>Brain (London, England : 1878)</jtitle><addtitle>Brain</addtitle><date>2011-01-01</date><risdate>2011</risdate><volume>134</volume><issue>Pt 1</issue><spage>137</spage><epage>142</epage><pages>137-142</pages><issn>0006-8950</issn><eissn>1460-2156</eissn><abstract>Huntington's disease is an autosomal dominant brain disease. Although conceptualized as a neurodegenerative disease of the striatum, a growing number of studies challenge this classic concept of Huntington's disease aetiology. Intracranial volume is the tissue and fluid within the calvarium and is a representation of the maximal brain growth obtained during development. The current study reports intracranial volume obtained from an magnetic resonance imaging brain scan in a sample of subjects (n = 707) who have undergone presymptomatic gene testing. Participants who are gene-expanded but not yet manifesting the disease (prodromal Huntington's disease) are compared with subjects who are non-gene expanded. The prodromal males had significantly smaller intracranial volume measures with a mean volume that was 4% lower compared with controls. Although the prodromal females had smaller intracranial volume measures compared with their controls, this was not significant. 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| ispartof | Brain (London, England : 1878), 2011-01, Vol.134 (Pt 1), p.137-142 |
| issn | 0006-8950 1460-2156 |
| language | eng |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adult Aged Analysis of Variance Biological and medical sciences Brain - pathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Humans Huntington Disease - genetics Huntington Disease - pathology Magnetic Resonance Imaging Male Medical sciences Middle Aged Neurology Organ Size Original Trinucleotide Repeats - genetics |
| title | Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment |
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