Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat
Main Author: | |
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Publication Date: | 2006 |
Other Authors: | , , , |
Format: | Article |
Language: | eng |
Source: | Brazilian Journal of Medical and Biological Research |
Download full: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000800016 |
Summary: | Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported. The objective of the present study was to perform MRI measurements of caudate, putamen, cerebral, and cerebellar volumes and correlate these findings with the length of the CAG repeat and clinical parameters. We evaluated 50 consecutive patients with HD using MRI volumetric measurements and compared them to normal controls. Age at onset of the disease ranged from 4 to 73 years (mean: 43.1 years). The length of the CAG repeat ranged from 40 to 69 (mean: 47.2 CAG). HD patients presented marked atrophy of the caudate and putamen, as well as reduced cerebellar and cerebral volumes. There was a significant correlation between age at onset of HD and length of the CAG repeat, as well as clinical disability and age at onset. The degree of basal ganglia atrophy correlated with the length of the CAG repeat. There was no correlation between cerebellar or cerebral volume and length of the CAG repeat. However, there was a tendency to a positive correlation between duration of disease and cerebellar atrophy. While there was a negative correlation of length of the CAG repeat with age at disease onset and with striatal degeneration, its influence on extrastriatal atrophy, including the cerebellum, was not clear. Extrastriatal atrophy occurs later in HD and may be related to disease duration. |
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Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeatNeurodegenerationDynamic mutationGenotype-phenotype correlationBasal gangliaMagnetic resonance imagingHuntington's diseaseHuntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported. The objective of the present study was to perform MRI measurements of caudate, putamen, cerebral, and cerebellar volumes and correlate these findings with the length of the CAG repeat and clinical parameters. We evaluated 50 consecutive patients with HD using MRI volumetric measurements and compared them to normal controls. Age at onset of the disease ranged from 4 to 73 years (mean: 43.1 years). The length of the CAG repeat ranged from 40 to 69 (mean: 47.2 CAG). HD patients presented marked atrophy of the caudate and putamen, as well as reduced cerebellar and cerebral volumes. There was a significant correlation between age at onset of HD and length of the CAG repeat, as well as clinical disability and age at onset. The degree of basal ganglia atrophy correlated with the length of the CAG repeat. There was no correlation between cerebellar or cerebral volume and length of the CAG repeat. However, there was a tendency to a positive correlation between duration of disease and cerebellar atrophy. While there was a negative correlation of length of the CAG repeat with age at disease onset and with striatal degeneration, its influence on extrastriatal atrophy, including the cerebellum, was not clear. Extrastriatal atrophy occurs later in HD and may be related to disease duration.Associação Brasileira de Divulgação Científica2006-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000800016Brazilian Journal of Medical and Biological Research v.39 n.8 2006reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/S0100-879X2006000800016info:eu-repo/semantics/openAccessRuocco,H.H.Lopes-Cendes,I.Li,L.M.Santos-Silva,M.Cendes,F.eng2006-08-02T00:00:00Zoai:scielo:S0100-879X2006000800016Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:2006-08-02T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false |
dc.title.none.fl_str_mv |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat |
title |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat |
spellingShingle |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat Ruocco,H.H. Neurodegeneration Dynamic mutation Genotype-phenotype correlation Basal ganglia Magnetic resonance imaging Huntington's disease |
title_short |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat |
title_full |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat |
title_fullStr |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat |
title_full_unstemmed |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat |
title_sort |
Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat |
author |
Ruocco,H.H. |
author_facet |
Ruocco,H.H. Lopes-Cendes,I. Li,L.M. Santos-Silva,M. Cendes,F. |
author_role |
author |
author2 |
Lopes-Cendes,I. Li,L.M. Santos-Silva,M. Cendes,F. |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Ruocco,H.H. Lopes-Cendes,I. Li,L.M. Santos-Silva,M. Cendes,F. |
dc.subject.por.fl_str_mv |
Neurodegeneration Dynamic mutation Genotype-phenotype correlation Basal ganglia Magnetic resonance imaging Huntington's disease |
topic |
Neurodegeneration Dynamic mutation Genotype-phenotype correlation Basal ganglia Magnetic resonance imaging Huntington's disease |
description |
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported. The objective of the present study was to perform MRI measurements of caudate, putamen, cerebral, and cerebellar volumes and correlate these findings with the length of the CAG repeat and clinical parameters. We evaluated 50 consecutive patients with HD using MRI volumetric measurements and compared them to normal controls. Age at onset of the disease ranged from 4 to 73 years (mean: 43.1 years). The length of the CAG repeat ranged from 40 to 69 (mean: 47.2 CAG). HD patients presented marked atrophy of the caudate and putamen, as well as reduced cerebellar and cerebral volumes. There was a significant correlation between age at onset of HD and length of the CAG repeat, as well as clinical disability and age at onset. The degree of basal ganglia atrophy correlated with the length of the CAG repeat. There was no correlation between cerebellar or cerebral volume and length of the CAG repeat. However, there was a tendency to a positive correlation between duration of disease and cerebellar atrophy. While there was a negative correlation of length of the CAG repeat with age at disease onset and with striatal degeneration, its influence on extrastriatal atrophy, including the cerebellum, was not clear. Extrastriatal atrophy occurs later in HD and may be related to disease duration. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-08-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000800016 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000800016 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0100-879X2006000800016 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
dc.source.none.fl_str_mv |
Brazilian Journal of Medical and Biological Research v.39 n.8 2006 reponame:Brazilian Journal of Medical and Biological Research instname:Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC |
instname_str |
Associação Brasileira de Divulgação Científica (ABDC) |
instacron_str |
ABDC |
institution |
ABDC |
reponame_str |
Brazilian Journal of Medical and Biological Research |
collection |
Brazilian Journal of Medical and Biological Research |
repository.name.fl_str_mv |
Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC) |
repository.mail.fl_str_mv |
bjournal@terra.com.br||bjournal@terra.com.br |
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1754302934706814976 |