Cognitive and neuroimaging profile of a Brazilian family with CADASIL

Arquivos de Neuro-Psiquiatria

Júlio César Vasconcelos Da Silva¹  Emerson L. Gasparetto²  Charles André² 

[1] ,Federal University of Rio de JaneiroRio de Janeiro RJ ,Brazil

关键词: CADASIL;    stroke;    neuropsychology;    cognition;    vascular dementia;    MRI;    CADASIL;    acidente vascular cerebral;    neuropsicologia;    cognição;    demência vascular;    RM;   

DOI  :  10.1590/S0004-282X2011000400005

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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