Chronic Familial Vascular Encephalopathy

Stevens, D; Hewlett, R. H.; Brownell, Betty

doi:10.1016/s0140-6736(77)92576-4

Cited by 85 publications

(25 citation statements)

References 4 publications

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“…Postmortem examinations of the tissue changes in the brain have been made only in a few cases of hereditary multi-infarct disease [29,31,32,34]. The most conspicu ous lesions are cerebral white matter atrophy, multiple varying-sized infarcts, occasional hemorrhages, many lacunes and regions of edema.…”

Section: Hereditary Multi-infarct Diseasementioning

confidence: 99%

“…Hereditary multi-infarct disease is an example of an inherited disease preferentially afflicting cerebral arteries and arterioles causing damage to smooth muscle cells of the media and deposition of collagens and ECM mole cules [12,29,31,34], Hyaline degeneration and collage nous thickening of the media and the presence of granular electron-dense extracellular material particularly in its inner portion were demonstrated by Baudrimont et al [31].…”

Section: Hereditary Multi-infarct Diseasementioning

confidence: 99%

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Structural and Vasoactive Factors Influencing Intracerebral Arterioles in Cases of Vascular Dementia and Other Cerebrovascular Disease: A Review

Zhang

Badonic²,

Höög³

et al. 1994

Dement Geriatr Cogn Disord

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The condition of the brain parenchyma in cases of vascular dementia and other cerebrovascular conditions may be influenced by structural and functional changes of the terminal intracerebral blood vessels. Arterioles can develop obliterative lesions, capillaries and postcapillary venules can be altered, causing edema. The first part of this review is focused on expression of different types of collagens and other components of the extracellular matrix in intracerebral arterioles. The changes present in hereditary multi-infarct disease of the brain are compared with those occurring in the Binswanger type of encephalopathy and cases presenting hyalinosis of intracerebral vessels. Deposition of collagens in degenerated parts of the media and adventitia of the arterioles may contribute to impaired blood flow regulation in the brain parenchyma. Fibrillary collagens and basal laminae are probably the most important components of the hyaline material in vessels showing ‘hyalinosis’. The second part of our review concerns the possibility that the vasoactive peptide, endothelin-1, released from reactive astrocytes, can influence the function of intracerebral arterioles. Normal astrocytes do not show endothelin-1-like immunoreactivity, but in cases of infarcts, lacunes, hereditary multi-infarct disease, Binswanger''s encephalopathy and Alzheimer''s disease numerous reactive astrocytes express such immunoreactivity. If endothelin-1 is produced and released from reactive astrocytes it may reach intracerebral arterioles and induce long-lasting vasoconstriction. Endothelin-1 is the most powerful vasoconstrictor peptide known to date and has mitogenic capacity. It may promote cellular mechanisms leading to astrocytic gliosis and neovascularization.

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Section: Hereditary Multi-infarct Diseasementioning

confidence: 99%

Section: Hereditary Multi-infarct Diseasementioning

confidence: 99%

Structural and Vasoactive Factors Influencing Intracerebral Arterioles in Cases of Vascular Dementia and Other Cerebrovascular Disease: A Review

Zhang

Badonic²,

Höög³

et al. 1994

Dement Geriatr Cogn Disord

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“…In Japan it is the commonest. Familial cases of this disease have been identified under various names such as chronic familial vascular encephalopathy [1], hereditary multi-infarct dementia [2], familial disorder with subcortical ischemic strokes and leukoencephalopathy [3]. In 1993, Tournier-Lasserve et al [4] coined the acronym CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) [4].…”

Section: Introductionmentioning

confidence: 99%

Mutations of the Notch3 Gene in Non-Caucasian Patients with Suspected CADASIL Syndrome

Kotorii¹,

Takahashi²,

Kamimura³

et al. 2001

Dement Geriatr Cogn Disord

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The Notch3 gene has been recently identified as a causative gene for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). To investigate the genetic contribution of Notch mutations in familial cases with vascular leukoencephalopathy, we screened 13 patients from 11 unrelated families, which were selected on the basis of magnetic resonance imaging findings and positive family history. We identified three different missense mutations in 5 patients from 4 families. Two (Arg90Cys and Arg133Cys) are the same as previously reported in Caucasian patients, the other (Cys174Phe) is a novel mutation causing a loss of a cysteine in epidermal-growth-factor-like repeats of Notch3. These data indicate that the CADASIL Notch3 mutations were found in approximately 35% of familial cases with leukoencephalopathy, suggesting genetic heterogeneity of the disease.

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“…After early reports of families affected by cerebral autosomal dominant arteriopathy leading to dementia [25,27]; it is now widely accepted that cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically homogeneous distinct nosological entity [28]. It is characterized by recurrent subcortical ischaemic strokes independent of vascular risk factors, pseudobulbar palsy and progressive dementia.…”

Section: Introductionmentioning

confidence: 99%

A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Trojano¹,

Ragno²,

Manca

et al. 1998

Journal of Neurology

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We report a 2-year prospective neuropsychological study of five asymptomatic subjects with magnetic resonance imaging (MRI) abnormalities from an Italian kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). These subjects completed tests for attention capacities, processing speed, abstract thinking, short-term memory, learning and constructional praxis. Seven normal subjects matched for age and education, belonging to the same pedigree and not having MRI hyperintensities were examined as controls. The results did not show significant differences between asymptomatic subjects and normal controls. Cognitive performance of asymptomatic subjects did not deteriorate during a 2-year follow-up. Our findings suggest that, at this stage of the disease process, the presence of diffuse leukoencephalopathy does not imply subtle cognitive defects.

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Chronic Familial Vascular Encephalopathy

Cited by 85 publications

References 4 publications

Structural and Vasoactive Factors Influencing Intracerebral Arterioles in Cases of Vascular Dementia and Other Cerebrovascular Disease: A Review

Structural and Vasoactive Factors Influencing Intracerebral Arterioles in Cases of Vascular Dementia and Other Cerebrovascular Disease: A Review

Mutations of the Notch3 Gene in Non-Caucasian Patients with Suspected CADASIL Syndrome

A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

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