Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “CADASIL”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 433 records · Page 24Linked to original sources
PubMed2005

The risk of stroke in patients with migraine and implications for migraine management.

Assessing the risk of stroke in persons with migraine is complicated by the intricate relationship between these two conditions. Both migraine and stroke are common and co-morbidity may, in some cases, be coincidental. Given the overlap of clinical symptoms in stroke and migraine, each condition may also mimic the other. Numerous studies have, however, shown that migraine is an independent risk factor for stroke both during, and remote from, the migraine attack. Women of childbearing age and those with aura are at greatest risk of migraine-related stroke. Additional risk of stroke in migraineurs occurs in those using oral contraceptive pills and who smoke cigarettes. Elevated blood pressure, an important stroke risk factor, is less common in migraineurs. Acquired antiphospholipid antibodies, not clearly a cause of migraine per se, may raise the risk of infarction in migraineurs. Hereditary conditions, including CADASIL (cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy), MELAS (mitochondrial myopathy, encephalopathy, lactacidosis and stroke) and hereditary haemorrhagic telangiectasia, appear to predispose to both migraine and stroke. Purported mechanisms for migraine-associated stroke include involvement of the vasculature (including vasospasm, arterial dissection and small vessel arteriopathy), hypercoagulability (elevated von Willebrand Factor, platelet activation) and elevated risk of cardioembolism (patent foramen ovale, atrial septal aneurysm). Triptans and ergotamines, used to treat acute migraine attacks, appear to be safe in low-risk populations. These medications should be avoided in persons with haemiplegic migraine, basilar migraine, vascular risk factor and prior cerebral or cardiac ischaemia.

Female↗
PubMed1999

[Neuroradiologic and pathologic approaches to the diagnosis of dementia syndrome].

"Dementia" is the general term used to describe the symptom complex of intellectual deterioration in adult. Interest in accurately diagnosing dementia is a relatively recent phenomenon. This is reflected in both the development of neuroradiologic examinations, including MRI and SPECT as well as PET, and marked increase in both the incidence and prevalence of dementia associated with increase of the elderly population. The clinical evaluation remains the key to the differential diagnosis. Most cases of "typical dementia" can be diagnosed accurately by clinical criteria. However, the definitive diagnosis of "atypical dementia" still requires intensive neuroradiologic studies and histologic examination of brain to identify characteristic structural changes. In this study, we presented both neuroradiologic and neuropathologic information, which is important in diagnosing diseases that present atypical dementia syndrome. These diseases are as follows; AIDS, isolated CNS angiitis, CO intoxication. Wernicke encephalopathy, adrenoleukodystrophy, Nasu disease, CADASIL, CARASIL, glioblastoma, primary CNS lymphoma, antiphospholipid antibody syndrome, reversible posterior leukoencephalopathy syndrome, mitochondrial encephalopathy (MELAS), and subcortical vascular dementias.

Brain↗
PubMedDate not supplied

[Coma associated with migraine].

INTRODUCTION: Basilar migraine is a particular form of migraine with an aura in which crises of headache are accompanied by symptoms of dysfunction in the vertebro-basilar territory, including alteration of consciousness in the form of stupor or coma. CLINICAL CASES: We report four patients, three men of 14, 17 and 83 years of age and one woman of 21. All had previous histories of migraine and presented with transitory episodes of coma. During the coma, the woman woke up spontaneously with intense bulimia. In the three men, it was seen, on injecting flumazenil, that the state of consciousness and the EEG returned to normal transiently. Neuroimaging studies (CT and MR) were normal in all patients. CONCLUSIONS: Migraine-coma is an exceptional, emergency condition in which structural, infectious, toxic and metabolic pathology of the Central Nervous System should be ruled out. As well as in patients with basilar migraine, the association of migraine and coma may also be seen in patients with familial hemiplegic migraine and CADASIL and MELAS syndromes. It may be that gabaergic mechanisms are involved in the theoretical dysfunction of the ascending reticular activating system causing alteration of consciousness, since in the three patients in whom flumazenil was injected, there was a response.

Adolescent↗
PubMed1999

Genetically determined vascular diseases.

Review of literature data concerning genetically determined blood vessel diseases is presented. These disorders are a cause of a process similar to Binswanger's disease but occurring familial. Recurrent TIA, ischemic strokes and other kind of blood supply disturbances lead to numerous and various intensity vasogenic brain tissue damage, particularly in the white matter. Progressive neurological symptoms and dementia form the picture of subcortical leukoencephalopathy in several members of family. Moyamoya disease, fibromuscular dysplasia, hereditary hemorrhagic telangiectasia, hereditary cerebral hemorrhage with amyloidosis, pseudoxanthoma elasticum, two types of subcortical encephalopathy in Japan, HERNS and CADASIL are described.

Brain Diseases↗
PubMed2000

[How I investigate...cetain skin disorders by ultrastructural examination].

Ultrastructural examination of the skin plays an important role in the diagnosis of some cutaneous and neurologic diseases such as ichthyoses, inherited connective tissue syndromes, non-X histiocytoses, anaplastic tumors, storage disorders, mitochondrial and degenerative neuropathies, POEMS, CADASIL.

Biopsy↗
PubMedDate not supplied

[Encephalopathy and other neurologic syndromes with familial occurrence].

A review is presented of literature data concerning vascular disease occurring in families. They manifested clinically as recurrent TIA, ischaemic and haemorrhagic strokes and other blood supply disturbances and lead to numerous vasogenic brain tissue damage of various intensity. Particularly evident lesions are observed in hemispheric white matter. Progressive neurological symptoms and dementia form the picture of subcortical leucoencephalopathy in several members of a family. Moyamoya disease, fibromuscular dysplasia, hereditary haemorrhagic telangiectasia, hereditary cerebral haemorrhage with amyloidosis, pseudoxanthoma elasticum, two types of subcortical encephalopathy in Japan, HERNS and CADASIL are described.

Adult↗
PubMed2003

[Genetics of cerebral vascular accidents].

Ischaemic or haemorrhagic cerebral vascular accidents (CVA) are the second cause of premature death in Western countries. Their pathophysiological mechanisms are very heterogeneous and implicate environmental and genetic factors. The recent identification of several genes implicated in the rare monogenic forms of CVA, such as hereditary cerebral amyloid angiopathy, cerebral cavernous angioma or CADASIL, has had immediate diagnostic applications for patients and their relatives, and has opened new insights into the mechanisms governing angiogenesis and/or vascular homeostasis. In the multifactorial forms of CVA, by far the most frequent, the role of a genetic factor is much more moderate, making identification of the implicated genes difficult. A very great number of association studies have been performed in order to examine the possible implication of candidate genes due to their known or supposed functions, but very few genetic variants have been associated with an increased risk of CVA, this increase being modest moreover. Quite recently an approach combining genetic linkage analysis and a haplotypic association study has allowed the localisation and identification of a new gene, phosphodiesterase 4D, implicated in ischaemic CVA, and the localisation on chromosome 7 of a gene implicated in the occurrence of cerebral aneurysms, thus raising new hopes in these multifactorial form.

Adaptor Proteins, Signal Transducing↗
PubMed2003

[Familial non-Alzheimer dementia].

This is an abstract of my lecture on familial non-Alzheimer dementia. 1. Vascular dementia 1) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by autosomal dominant inheritance, smooth muscle cell degeneration and granular osmiophilic material (GOM) in arterioles, and Notch 3 mutations. 2) CARASIL This is an autosomal recessive vascular dementia with unknown etiology. 3) Familial amyloid angiopathy Familial cerebral hemorrhage and dementia is caused by mutations in amyloid precursor protein, cystatin c, and Bri genes. 2. Familial non-Alzheimer degenerative dementia 1) Dementia with Lewy bodies This is characterized by Alzheimer like dementia, visual hallucination and diffuse Lewy bodies which are formed by ubiquitinated alpha-synuclein. Occasionally, familial forms are reported, but gene mutations are unknown. 2) Frontotemporal dementia (FTD) FTDP-17 is characterized by tau mutations, character and personal changes, and disinhibition. The gene mutations were also found in familial forms of Pick's disease, corticobasal degeneration, and other tauopathies. 3) Familial British dementia (FBD), familial Danish dementia (FDD) FBD and FDD are characterized by Abri amyloid deposits, amyloid angiopathy and dementia. Mutations in Bri gene are reported. 4) Familial encephalopathy with neuroserpin inclusion bodies (FENIB) FENIB is characterized by dementia, Collins body and neuroserpin gene mutation.

Adaptor Proteins, Signal Transducing↗
PubMed2005

[Basilar-type migraine: pathophysiology, symptoms and signs, and treatment].

Basilar-type migraine (BTM) is a type of migraine with aura symptoms resulting from brain stem or bi-hemispheric structures but without motor elements. There are no precise data on the frequency of BTM. The main cohort of the patients includes young people and children with female predomination. The onset of the disease usually occurs before the age of 25. The diagnosis of BTM is based on the finding of two migraine attacks accompanied by a specific aura, with dysarthria, vertigo, tinnitus, impaired hearing, double vision, visual aura elements, ataxia of a cerebellar type, loss of consciousness, and bilateral paresthesias. In the differential diagnosis one should consider the pathology of posterior fossa, diseases with recurrent vertigo, complex epileptic seizures, CADASIL and MELAS syndromes, and alternative hemiplegic migraine with cerebellar symptoms and signs. In the prophylaxis sodium valproate and calcium-entry blockers and, especially in the prophylaxis of vertigo, betahistine chloride are used.

Adult↗
PubMed2006

The genetic studies of dementias in Taiwan.

In Taiwan, Alzheimer's disease (AD) followed by vascular dementia (VsD) is the most common cause of dementia among Taiwanese (ethnic Chinese). Several studies have documented the increase of risk for AD among the apolipoprotein E gene allele 4 (ApoE4) carriers in Taiwanese. It is a consensus that ApoE4 is the most important risk factor for AD at present. The researchers also found that ApoE4 allele frequency is lower in Taiwanese, around 7%, than it in the most Caucasian populations. This phenomenon raises the hypothesis that low ApoE4 allele frequency contributes to low prevalence of AD in Taiwanese. Besides, many genetic studies were involved in genetic impacts on modulation or regulation of the manifestation, progression, and treatment response of AD. But, these genetic studies are still inconclusive. Few familial AD attributed to PS1 gene mutation has been identified. The genetic studies of VsD are just beginning and NOTCH3 gene mutation has been detected in Taiwanese cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) families. Since there is a large proportion of non- ApoE4-associated AD in Taiwanese, it remains more researches to look for novel genetic factors in Taiwanese. Based on the Japanese experience of studies, the association between the polymorphisms of ApoE and familial AD, sporadic early-onset AD respectively warrants further investigation.

Alzheimer Disease↗
PubMed2006

[Neurodegeneration and cerebrovascular disease: causal or incidental link?].

Neurodegenerative and cerebrovascular diseases have been related for more than a century. Epidemiological data show that main vascular risk factors are also risk factors for Alzheimer disease. Experimental evidences demonstrate that some of those risk factors accelerate the progress of Alzheimer lesions, mainly by acting on the amyloid cascade. Recent advances in understanding the basic mechanisms of CADASIL and familial amyloid angiopathy reveal that these forms of vascular dementias are degenerative disease of brain vessels. Modern neuroimaging techniques will allow to better understand relations between symptomatic strokes, silent infarcts, leukoaraiosis, microbleeds and degenerative pathology before the stage of dementia.

Cerebrovascular Disorders↗
PubMed2006

Genetic characteristics of dementia in Taiwan.

The most common causes of dementia in Taiwan are Alzheimer's disease (AD) followed by vascular dementia (VaD). Several genetic studies have documented an increased risk of AD among apolipoprotein E gene allele 4 (ApoE4) carriers in Taiwanese (ethnic Chinese). Although ApoE4 is considered the most important risk factor for AD, the ApoE4 allele frequency is lower in Taiwanese (around 7%), than that in most Caucasian populations (over 10%). This phenomenon raises the hypothesis that low ApoE4 allele frequency contributes to the low prevalence of AD in Taiwanese. Other studies of the genetic impacts on modulation or regulation of manifestations, progression, and treatment response of AD in Taiwan have been inconclusive. Familial AD, which is conferred by PS1 gene mutation has been identified. There were very few studies of fronto-temporal dementia (FTD) or dementia with Lewy body (DLB) in Taiwan. Genetic studies of VaD remain limited and only NOTCH3 gene mutation has been detected in a Taiwanese cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) family. Limited data indicated that non- ApoE4-associated AD may represent a larger proportion of AD in Taiwanese, suggesting the existence of novel genetic factors which remain to be identified.

Alzheimer Disease↗
PubMed1995

Vascular dementia: a changing concept.

The traditional concept of vascular dementia implied the thickening of arteries of the brain as a source of diffuse reduction of cerebral blood flow leading to neuronal death, cerebral atrophy, and finally dementia. Although this concept has been recently revived, with the increasing use of brain imaging technologies, new concepts of vascular dementia came into view. Present classification tends to separate various pathomechanisms (large- and small-vessel disease), to define different brain territories involved (strategic infarctions, cortico-subcortical and subcortical lacunes, borderzone/junctional zone infarctions, and white matter lesions) and most recently even genetics dispositions to vascular dementia of nonatherosclerotic etiology (CADASIL). Dementia caused by other mechanisms are separated from the aforementioned.

Dementia, Vascular↗
PubMed1996

[Familial Binswanger-type encephalopathy with Sneddon syndrome].

We reported a family with early onset cerebrovascular disease. Patient 1 (a 36-year-old man) demonstrated a combination of livedo reticularis and cerebral infarction as previously described as Sneddon syndrome. He also showed transient focal neurologic symptoms and mild dementia. Patient 2 (an elder sister of Patient 1) was suffering from migraine. Their father and paternal uncle died of cerebral infarction, which had developed in their thirties or forties. Patients 1 and 2 showed MRI findings compatible with encephalopathy with Binswanger-type. Contrary to the previous reports on Binswanger-type encephalopathy, both of these patients demonstrated decreased levels of fibrinogen as well as those of factor V, together with negative antiphospholipid antibody. Thus, juvenile onset, autosomal dominant inheritance, the diversity of clinical findings and the coagulopathy in this family were characteristic features. The level of thrombin-antithrombin III complex (TAT) was markedly increased in Patient 1. Treatment with antithrombin (argatroban 20mg i.v. everyday for 28 days) not only reduced the level of TAT but also improved the livedo reticularis and neurological findings. Although gene analysis has not been performed yet on this family, this condition is similar to cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL), which involve juvenile cerebral infarction and dementia as well as migraine.

Adult↗
PubMedDate not supplied

Disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages: a new dementia disorder? Autopsy reports of two postmenopausal women from families with mitochondrial DNA mutations.

In this study we present 2 postmenopausal women who showed clinical symptoms that resembled those of a rather well-defined group of vascular dementia disorders, termed subcortical dementia (Binswanger disease, CADASIL). Patient 1 exhibited mitochondrial DNA (mtDNA) variants in the ND5 gene at position 13,708 and the Cytb gene at position 15,257. These DNA variants have been described in a number of neurologic disorders, but their pathogenetic potential is unclear. Patient 2 showed the same DNA alterations and an additional mtDNA variant at position 15,812 in the Cytb gene. The principal neurohistologic features of the 2 atrophic brains presented here include: subtotal selective neuronal cell loss in the cortex and, to a lesser degree, in the basal ganglia (claustrum, putamen, globus pallidus), sparing palaeocortex and periarchaeocortex, and a very characteristic and diagnostic feature was detachment of astrocytic processes from capillary walls resulting in pericapillary space formation. These pericapillary spaces were partially filled with macrophages. The spaces were not associated with total breakdown of the blood vessel walls as demonstrated by the absence of erythrocytes, lymphocytes, or polymorphonuclear leukocytes outside the vascular bed of the brain; progressive subcortical encephalopathy, as it is seen in subcortical dementia (Binswanger), but lacking arterial lipohyalinosis. The cerebral grey and white matter revealed cuffing of arteries and arterioles by adventitial macrophages. The neocortical and subcortical changes were accompanied by myriads of activated macrophages filled with lipids. The pathology of our 2 cases differs from that of other neurodegenerative disorders and we suggest the term of "disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages".

Basal Ganglia↗
PubMed1998

[Hereditary autosomal dominant brain infarction].

Some aspects of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are reviewed. The condition causes stroke and vascular dementia. Pathological examination reveals multiple small, deep infarcts, leukoencephalopathy, and non-atherosclerotic, non-amyloid angiopathy which mainly involve the small cerebral arteries where there are severe alterations in vascular smooth-muscle cells. In hereditary autosomal dominant stroke condition patients with mutations in the human Notch 3 gene on chromosome 19 have been identified. Skin and muscle biopsy may be useful for diagnosing this condition. No causal treatment is available. Hereditary autosomal dominant stroke condition has not been diagnosed in any Norwegian family to date.

Adult↗
PubMed1997

[CADASIS. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalophathy].

CADASIL is an inherited arterial disease of the brain with an autosomal dominant pattern of transmission. The mapping of the affected gene in 1993 allowed us to describe the natural history of the disease. In some patients, the disease starts with attacks of migraine with aura at a mean age of 30 years. The most frequent clinical manifestations are subcortical transient ischemic attacks or completed strokes usually occurring between 40 and 50 years of age which are sometimes associated with severe mood disturbances. The disease leads about two decades later to death after a variable period of subcortical dementia associated with pseudobulbar palsy and urinary incontinence. In one given family, the severity of the clinical presentation varies among the affected subjects. MRI is always abnormal in symptomatic subjects. It shows more or less confluent hypersignals on T2-weighted images in white-matter and basal ganglia and hyposignals on T1-weighted images in the same regions corresponding to small infarcts. These signal abnormalities are even observed a long time before the onset of clinical manifestations as they are present in totally asymptomatic young family members. Histologic studies show a widespread palor of white-matter and multiple small infarcts in the white-matter and basal ganglia underlaid by a small artery disease of the brain. Electron microscopy studies show that the media of the white-matter and leptomeningeal small arteries is thickened by a granular, eosinophilic and non-amyloid material of undetermined origin close to the smooth muscle cells. These ultrastructural wall abnormalities have been observed in other arteries, particularly in muscular and skin arteries. Mutations of Notch3 gene located on chromosome 19 are responsible for the disease. The diagnosis should be discussed in subjects with a history of unexplained subcortical ischemic strokes, attacks of migraine with aura, mood disorders of subcortical dementia whenever associated with MRI signal abnormalities in white-matter and basal ganglia.

Brain↗
PubMed2026

Potential contributors to variable penetrance of NOTCH3 p.Arg1231Cys Variant.

Missense mutations in NOTCH3, especially cysteine-altering pathogenic variants, are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. The NOTCH3 p.Arg1231Cys variant, located in EGFr domain 31, is classified as low-risk under the three-tiered EGFr domain risk stratification system. We report two cases of p.Arg1231Cys heterozygosity presenting with early-onset dementia, strokes, and extensive leukoencephalopathy. These cases highlight the potential contributing factors to increasing penetrance of p.Arg1231Cys variant, and the need for functional evaluation to improve the clinical utility of genetic testing in hereditary small vessel disease.

Humans↗