1/14. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (cadasil): a case report with review of literature.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (cadasil) is an inherited arterial disease, commonly overlooked or misdiagnosed. We report a case of cadasil in a 51 years old woman who presented with progressive subcortical dementia, recurrent ischemic events and seizures in the absence of known vascular risk factors of five years' duration. Her mother had a history of similar illness. magnetic resonance imaging (MRI) of brain revealed subcortical and deep white matter hyperintense lesions within the cerebral white matter on T2-weighted images. dna mutation of Notch 3 gene confirmed the diagnosis of cadasil.- - - - - - - - - - ranking = 1keywords = cerebral, brain (Clic here for more details about this article) |
2/14. cadasil in a family from north-west india.We here with report a family with two sibs having history of recurrent familial stroke. neuroimaging revealed diffuse hyperintense signals in subcortical white matter and basal ganglia on MR images in younger sib suggestive of cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leucoencephalopathy (cadasil). The diagnosis was further strengthened on skin biopsy showing presence of PAS positive granules with thickening of dermal vessels.- - - - - - - - - - ranking = 0.99895737748457keywords = cerebral (Clic here for more details about this article) |
3/14. Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.The phenotype and genotype of cerebral autosomal dominant arteriopathy and subcortical infarcts and leukoencephalopathy (cadasil) in Caucasians have been well characterized, but cadasil is less recognized in Asian populations. Here we investigated the first known Taiwanese family affected by cadasil and identified an uncommon NOTCH3 mutation. The family had clinical manifestations in affected members including recurrent strokes, early dementia, and depression, but not migraine. A skin biopsy in the proband patient showed characteristic pathological findings of cadasil on electron microscopy. Afterward, genetic analysis found an Arg332Cys mutation at exon 6 of NOTCH3. Neuropsychological evaluation showed vascular dementia in two of four affected people. head MRI showed multiple infarcts in bilateral basal ganglia, thalami, periventricular white matter, external capsules, and brainstem, but involvement of the anterior temporal pole was found only in two people with milder symptoms. To our knowledge, the Arg332Cys NOTCH3 mutation at exon 6, which was identified in the studied family, has not been reported in Asian populations. Our findings emphasize the importance of genetic analysis of NOTCH3 for Asians with a phenotype typical of cadasil.- - - - - - - - - - ranking = 4.9958295099383keywords = cerebral, brain (Clic here for more details about this article) |
4/14. Peripheral neuropathy in cadasil.BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (cadasil) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse. OBJECTIVE: To assess peripheral neuropathy in patients with cadasil. patients AND methods: We enrolled eleven cadasil patients with variable phenotype including clinical signs of peripheral nerve involvement. In all patients electromyography and nerve conduction velocities were performed. Peripheral nerve biopsy was performed in three cases. RESULTS: We found sensory motor neuropathy in 7/11 patients. Nerve biopsy revealed axonal and demyelinated findings. CONCLUSION: Our findings suggest that peripheral neuropathy may be part of the cadasil phenotype.- - - - - - - - - - ranking = 1.9979147549691keywords = cerebral (Clic here for more details about this article) |
5/14. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) presenting with sudden sensorineural hearing loss.cadasil (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant angiopathy characterized by recurrent cerebrovascular events, migraine and dementia. We describe a case of sensorineural hearing loss as the presenting feature of this condition. We have found no previous reports in the world literature of cadasil presenting with a sudden sensorineural hearing loss. The significance of questioning a patient with regard to family history is exemplified in this case.- - - - - - - - - - ranking = 0.99895737748457keywords = cerebral (Clic here for more details about this article) |
6/14. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil).Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is an adult-onset hereditary syndrome characterized by recurrent TIAs and strokes, cognitive decline and dementia, migraine with aura ( /-40% of patients), and psychiatric disturbances ( /-30% of patients). Affected individuals have prominent signal abnormalities on brain MRI. Symmetrical white matter abnormalities are invariably seen and often small subcortical infarcts are also present. The extent of the MRI lesions increases with age, from subtle white matter abnormalities in the anterior temporal poles in the early 20 years to confluent white matter lesions with subcortical infarcts and microbleeds in the 6(th) decade. A typical arteriopathy with electron dense granular depositions in the media of small cerebral arteries underlies this disorder. These arterial lesions can be found, to a lesser extent, in extra-cerebral arteries such as skin arterioles. In 1996, the defective gene in cadasil was discovered to be NOTCH3. NOTCH3 encodes a 300-kd transmembrane protein with a receptor and cell signal transduction function. Mutations are almost always missense mutations causing the loss or gain of a cysteine residue and are detected in over 90% of patients. How alterations in NOTCH3 lead to the cadasil phenotype has yet to be elucidated.- - - - - - - - - - ranking = 1.9989573774846keywords = cerebral, brain (Clic here for more details about this article) |
7/14. Typical pathological changes of cadasil in the optic nerve.Visual impairment due to retinal and optic nerve changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is more common than previously thought. Deposits of granular osmiophilic material (GOM) have been shown in the wall of retinal arterioles, though retinal infarcts and vascular occlusions have never been reported. Ischaemic optic neuropathy, on the other hand, has been reported in one case of cadasil but no pathology reports of the optic nerve have been published. Here we report optic nerve morphological findings in the autopsy material of a 41-year-old woman with genetically assessed cadasil. Longitudinal and transverse sections of optic nerves were examined. Classical histological methods (haematoxylin-eosin and Nissl) were performed. Diffuse pallor of myelin and rarefaction of optic nerve fibres were observed. Classical GOM was evident in the tunica media of vessels in the meninges and white matter. Arteriole lumina were slightly narrowed. In conclusion, the typical pathological changes of cadasil occur in the optic nerve and may contribute to impairment of visual function in cadasil.- - - - - - - - - - ranking = 0.99895737748457keywords = cerebral (Clic here for more details about this article) |
8/14. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) in a Greek family.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is an adult-onset inherited disease, characterised by recurrent strokes, migraine and cognitive impairment. We present the first Greek family with cadasil, caused by the R153C mutation at exon 4 of the Notch3 gene. A member of this family carrying this mutation was also found to be heterozygotic for the MTHFR mutation, factor v Leiden mutation and had low serum levels of antithrombin iii, thus resulting in the appearance of recurrent strokes and thrombotic episodes since his early adulthood. The co-existence of these thrombophilic disorders with cadasil in a single person poses serious therapeutic dilemmas, as the administration of anticoagulant agents may correlate with increased risk of potentially fatal intracerebral haemorrhage.- - - - - - - - - - ranking = 1.5712356690388keywords = cerebral, intracerebral haemorrhage, haemorrhage, intracerebral (Clic here for more details about this article) |
9/14. The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) by mutation analysis.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is an important cause of hereditary stroke. Mutations in the Notch3 gene are clearly causally linked to this progressive vascular disorder. Cerebral ischemic attacks, cognitive decline, strokes, and vascular dementia constitute the major manifestations of this disorder. This report details the prenatal detection of a Notch3 mutation in the fetus of a couple where the father had a known mutation in this gene. This is the first report of a prenatal diagnosis of cadasil, and another example of a serious, highly penetrant, and relentlessly progressive degenerative genetic disorder presenting decades after birth and for which prenatal diagnosis is an option.- - - - - - - - - - ranking = 3.9958295099383keywords = cerebral (Clic here for more details about this article) |
10/14. Cerebellar arteriovenous malformation and vertebral artery aneurysm in a cadasil patient.The presence of large vessels malformations has not been reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). We describe a cadasil patient in whom a brain cerebellar arteriovenous malformation was revealed by magnetic resonance (MR) imaging. An MR angiogram documented also an aneurysm along the right intracranial vertebral artery at the junction with the posterior-inferior cerebellar artery. The aneurysm was successfully treated by means of endovascular coil embolization. No neurological complication occurred in our patient during the angiographic procedure. In this case, in addition to an incidental coexistence of cadasil and large vessels abnormalities, a causal role of the Notch pathway alteration could be hypothesized. Dysregulation of the Notch pathway is linked to several human diseases besides cadasil. In one of these (the alagille syndrome) intracranial aneurysms are reported. This hypothesis contrasts however with the absence of similar reports in other cadasil cases and needs corroboration in large series.- - - - - - - - - - ranking = 1keywords = cerebral, brain (Clic here for more details about this article) |
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