Cognitive and neuroimaging profile of a Brazilian family with CADASIL
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease leading to small infarcts and subcortical vascular dementia. This study presents results from the neuropsychological and neuroimaging evaluation of functionally a...
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| Language: | English |
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Thieme Revinter Publicações
2011-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400005&lng=en&tlng=en |
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| author | Júlio César Vasconcelos da Silva Emerson L. Gasparetto Charles André |
| author_facet | Júlio César Vasconcelos da Silva Emerson L. Gasparetto Charles André |
| author_sort | Júlio César Vasconcelos da Silva |
| collection | DOAJ |
| description | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease leading to small infarcts and subcortical vascular dementia. This study presents results from the neuropsychological and neuroimaging evaluation of functionally autonomous individuals of a Brazilian family with CADASIL. The causal mutation was confirmed in four family members. Seven individuals from two generations were evaluated using the CERAD battery and additional neuropsychological tests and were submitted (6 individuals) to magnetic resonance imaging (MRI) of the brain with specific protocols for white matter lesion quantification. Apraxic changes and fast progression over nine months (neuropsychological reevaluation of 6 individuals) were found in many individuals. The MRI study suggests greater involvement of frontal lobes in more severely affected individuals. Even functionally independent individuals may exhibit significant neuropsychological and neuroimaging changes. Apraxia, little commented on in literature, and rapidly progressive cognitive changes were found in this group. |
| format | Article |
| id | doaj-art-e37619df508f4cd1ab89ecc9b504abd2 |
| institution | OA Journals |
| issn | 1678-4227 |
| language | English |
| publishDate | 2011-06-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-e37619df508f4cd1ab89ecc9b504abd22025-08-20T02:21:21ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272011-06-0169343644010.1590/S0004-282X2011000400005S0004-282X2011000400005Cognitive and neuroimaging profile of a Brazilian family with CADASILJúlio César Vasconcelos da Silva0Emerson L. Gasparetto1Charles André2Universidade Federal do Rio de JaneiroUniversidade Federal do Rio de JaneiroUniversidade Federal do Rio de JaneiroCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease leading to small infarcts and subcortical vascular dementia. This study presents results from the neuropsychological and neuroimaging evaluation of functionally autonomous individuals of a Brazilian family with CADASIL. The causal mutation was confirmed in four family members. Seven individuals from two generations were evaluated using the CERAD battery and additional neuropsychological tests and were submitted (6 individuals) to magnetic resonance imaging (MRI) of the brain with specific protocols for white matter lesion quantification. Apraxic changes and fast progression over nine months (neuropsychological reevaluation of 6 individuals) were found in many individuals. The MRI study suggests greater involvement of frontal lobes in more severely affected individuals. Even functionally independent individuals may exhibit significant neuropsychological and neuroimaging changes. Apraxia, little commented on in literature, and rapidly progressive cognitive changes were found in this group.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400005&lng=en&tlng=enCADASILacidente vascular cerebralneuropsicologiacogniçãodemência vascularRM |
| spellingShingle | Júlio César Vasconcelos da Silva Emerson L. Gasparetto Charles André Cognitive and neuroimaging profile of a Brazilian family with CADASIL Arquivos de Neuro-Psiquiatria CADASIL acidente vascular cerebral neuropsicologia cognição demência vascular RM |
| title | Cognitive and neuroimaging profile of a Brazilian family with CADASIL |
| title_full | Cognitive and neuroimaging profile of a Brazilian family with CADASIL |
| title_fullStr | Cognitive and neuroimaging profile of a Brazilian family with CADASIL |
| title_full_unstemmed | Cognitive and neuroimaging profile of a Brazilian family with CADASIL |
| title_short | Cognitive and neuroimaging profile of a Brazilian family with CADASIL |
| title_sort | cognitive and neuroimaging profile of a brazilian family with cadasil |
| topic | CADASIL acidente vascular cerebral neuropsicologia cognição demência vascular RM |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000400005&lng=en&tlng=en |
| work_keys_str_mv | AT juliocesarvasconcelosdasilva cognitiveandneuroimagingprofileofabrazilianfamilywithcadasil AT emersonlgasparetto cognitiveandneuroimagingprofileofabrazilianfamilywithcadasil AT charlesandre cognitiveandneuroimagingprofileofabrazilianfamilywithcadasil |