Desempeño cognitivo en portadores asintomáticos de las mutaciones R1031C y R141C en CADASIL

Zuluaga‐Castaño, Yesica; Arenas, David Andrés Montoya; Velilla, Lina; Ospina, Carolina; Arboleda‐Velásquez, Joseph F.; Quiroz, Yakeel T.; Lopera, Francisco

doi:10.21500/20112084.3373

Cited by 3 publications

(2 citation statements)

References 27 publications

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“…Dichgans and Leys (2017) suggested that cognitive impairments of vascular origin may be associated with normal or mildly impaired daily living activities, thus defining so-called vascular mild cognitive impairment. Our study supports the idea that individuals with CADASIL might show visuoconstructional impairments without clinically relevant cognitive deterioration, suggesting that vascular mild cognitive impairment could include defects of visuoconstructional abilities (Zuluaga-Castaño et al, 2018). It often has been observed, indeed, that the burden of lacunar lesion significantly correlates with low cognitive performance in individuals with CADASIL (Chabriat et al, 2009), but few studies have specifically searched for visuoconstructional impairments, which can go unnoticed because they are less salient than other cognitive defects.…”

Section: Discussionsupporting

confidence: 87%

“…Only a few researchers have investigated constructional apraxia (CA)—that is, the inability to produce a complex figure by putting its parts in the correct spatial relationship (Kleist, 1934), occurring in visuoconstructional tests—in individuals with CADASIL (Zuluaga-Castaño et al, 2018). CA has been reported in individuals who are affected by cognitive deterioration (Da Silva et al, 2011; Song et al, 2014), but such impairments can also occur independently from general cognitive impairment.…”

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confidence: 99%

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Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Lucia

Ragno²,

Paci³

et al. 2022

Cognitive and Behavioral Neurology

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Background: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic small-vessel disease that is characterized by a wide range of neurologic and neuropsychological impairments. Constructional impairments have been reported in some cases but have never been assessed systematically. Objective: To evaluate constructional abilities and their cognitive and neural correlates in nondemented individuals with CADASIL. Method: Thirty individuals with CADASIL who were not affected by clinically relevant cognitive deterioration and 30 healthy controls (HC) underwent an extensive cognitive assessment and paper-and-pencil visuoconstructional tasks in order to detect constructional impairments. Performance on the visuoconstructional tasks was correlated with the cognitive assessment scores and with quantitative indices of regional gray matter atrophy (obtained via FreeSurfer image analysis) and white matter involvement. Results: The individuals with CADASIL achieved significantly lower scores on the cognitive assessment compared with the HC. Poor visuoconstructional abilities were observed in seven (23.3%) of the individuals with CADASIL when performing the copy drawing task and in nine (30%) when performing the Rey Complex Figure Test. Logistic regression revealed that visuoconstructional impairments were significantly associated with scores on the Frontal Assessment Battery and the Attentional Matrices Test. Morphometric results revealed that scores on the visuoconstructional tasks were related to gray matter atrophy of the left frontal lobe and right parietal lobe. Conclusion: Impairments on visuoconstructional tasks are quite common in individuals with CADASIL, even in the lack of clinically relevant cognitive deterioration, and are critically related to frontal and parietal atrophy.

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Section: Discussionsupporting

confidence: 87%

mentioning

confidence: 99%

Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Lucia

Ragno²,

Paci³

et al. 2022

Cognitive and Behavioral Neurology

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Specific Abnormalities in White Matter Pathways as Interface to Small Vessels Disease and Cognition in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Individuals

et al. 2022

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Global Cardiovascular Risk Profile and Cerebrovascular Abnormalities in Presymptomatic Individuals with CADASIL or Autosomal Dominant Alzheimer’s Disease

Schoemaker

Velilla-Jiménez

Zuluaga

et al. 2021

JAD

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Background: Cardiovascular risk factors increase the risk of developing dementia, including Alzheimer’s disease and vascular dementia. Objective: Studying individuals with autosomal dominant mutations leading to the early onset of dementia, this study examines the effect of the global cardiovascular risk profile on early cognitive and neuroimaging features of Alzheimer’s disease and vascular dementia. Methods: We studied 85 non-demented and stroke-free individuals, including 20 subjects with Presenilin1 (PSEN1) E280A mutation leading to the early onset of autosomal dominant Alzheimer’s disease (ADAD), 20 subjects with NOTCH3 mutations leading to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to the early onset of vascular dementia, and 45 non-affected family members (non-carriers). All subjects underwent clinical and neuropsychological evaluations and an MRI. The global cardiovascular risk profile was estimated using the office-based Framingham Cardiovascular Risk Profile (FCRP) score. Results: In individuals with CADASIL, a higher FCRP score was associated with a reduced hippocampal volume (B = –0.06, p < 0.05) and an increased severity of cerebral microbleeds (B = 0.13, p < 0.001), lacunes (B = 0.30, p < 0.001), and perivascular space enlargement in the basal ganglia (B = 0.50, p < 0.05). There was no significant association between the FCRP score and neuroimaging measures in ADAD or non-carrier subjects. While the FCRP score was related to performance in executive function in non-carrier subjects (B = 0.06, p < 0.05), it was not significantly associated with cognitive performance in individuals with CADASIL or ADAD. Conclusion: Our results suggest that individuals with CADASIL and other forms of vascular cognitive impairment might particularly benefit from early interventions aimed at controlling cardiovascular risks.

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Desempeño cognitivo en portadores asintomáticos de las mutaciones R1031C y R141C en CADASIL

Cited by 3 publications

References 27 publications

Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Constructional Impairments and Their Neural Correlates in Nondemented Adults With Cerebral Autosomal-dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Specific Abnormalities in White Matter Pathways as Interface to Small Vessels Disease and Cognition in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Individuals

Global Cardiovascular Risk Profile and Cerebrovascular Abnormalities in Presymptomatic Individuals with CADASIL or Autosomal Dominant Alzheimer’s Disease

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