Correlation of cognitive status, MRI‐ and SPECT‐imaging in CADASIL patients

Scheid, Rainer; Preul, Christoph; Lincke, Thomas; Matthes, Gustavo Zucca; Schroeter, Matthias L.; Guthke, Thomas; Cramon, D. Yves von; Sabri, Osama

doi:10.1111/j.1468-1331.2006.01245.x

Cited by 13 publications

(5 citation statements)

References 45 publications

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“…Later in the disease, there is likely a critical point at which the extent of damage leads to a drop in CBF and acceleration of the disease process. SPECT studies have shown global hypoperfusion that appeared worse in older and more severely affected subjects [32], but perfusion results were not always clearly related to clinical outcomes [33].…”

Section: Discussionmentioning

confidence: 99%

Brain imaging factors associated with progression of subcortical hyperintensities in CADASIL over 2‐year follow‐up

Moreton

Cullen

Dickie

et al. 2020

Euro J of Neurology

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Background and purpose: Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a cerebral small vessel disease manifesting with stroke, migraine and dementia in adults. The disease displays significant phenotypic variability that is incompletely explained. Early abnormalities in vascular function have been shown in animal models. We postulated that studying changes in vascular function may offer insights into disease progression. Methods: Twenty-two subjects with CADASIL [50% female, 50 (AE11) years] from 19 pedigrees were included in a longitudinal multimodality study using brain magnetic resonance imaging (MRI), clinical measures, neuropsychology and measures of peripheral vascular function. MRI studies included measurement of structural brain changes, cerebral blood flow (CBF) and cerebrovascular reactivity by arterial spin labelling and a CO 2 respiratory challenge. Results: Over 2 years, new stroke or transient ischaemic attack (TIA) occurred in five (23%) subjects and new significant disability in one (5%). There were significant increases in number of lacunes, subcortical hyperintensity volume and microbleeds, and a decrease in brain volume. CBF declined by 3.2 (AE4.5) ml/100 g/min over 2 years. CBF and carotid-femoral pulse wave velocity at baseline predicted change in subcortical hyperintensity volume at follow-up. Carotid intima-media thickness and age predicted brain atrophy. Baseline CBF was lower in subjects who showed a decline in attention and working memory. Conclusions: Cerebral blood flow predicts radiological progression of hyperintensities and thus is a potential biomarker of disease progression in CADA-SIL. Over 2 years, there were changes in several relevant imaging biomarkers (CBF, brain volume, lacunes, microbleeds and hyperintensity volume). Future studies in CADASIL should consider assessment of CBF as prognostic factor.

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Section: Discussionmentioning

confidence: 99%

Brain imaging factors associated with progression of subcortical hyperintensities in CADASIL over 2‐year follow‐up

Moreton

Cullen

Dickie

et al. 2020

Euro J of Neurology

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“…Epigenetics factors could be mentioned 20 , but also genetic diversity among individuals from different countries and cohorts 21 22 . The relationship between MRI lesion patterns and cognitive state in patients with CADASIL is still under study 14,[23][24][25][26] . It has been suggested 24,27 that cognitive impairment in CADASIL is related to the accumulation of lacunar infarts and increase in ventricular volume but not to brain atrophy.…”

Section: Discussionmentioning

confidence: 99%

Cognitive and neuroimaging profile of a Brazilian family with CADASIL

Silva

Gasparetto

André

2011

Arq. Neuro-Psiquiatr.

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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.

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“…The cortical uptake ratio in single photon emission computed tomography (SPECT) has been shown to reflect the in vivo perfusion state . The quantitative region‐of‐interest‐based (ROI‐based) information conveyed by factors such as neuronal loss, blood flow and white matter lesions is implied in changes of cerebral perfusion. Although many studies have explored the effects of tHcy in AD using brain magnetic resonance imaging (MRI), there is a paucity of literature regarding the influence of tHcy on cerebral perfusion.…”

Section: Introductionmentioning

confidence: 99%