Cases reported "Cadasil"

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11/24. cadasil with NOTCH3 S180C presenting anticipation of onset age and hallucinations.

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is an inherited disease leading to strokes and vascular dementia. The average age of onset for stroke is 45 years with a range of about 30 to 70 years. We describe a Japanese cadasil family showing S180C in the exon 4 of NOTCH3, presenting an anticipation of the onset age for stroke. MRI demonstrated a similar extent of white matter involvement in younger and older individuals, supporting the presence of anticipation. In addition, hallucinations in 71% of affected patients, and delusions in 57% were also described. Our findings in this family suggest that a specific NOTCH3 mutation was related to unique clinical features, although such correlations have seldom been encountered in cadasil. ( info)

12/24. 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. ( info)

13/24. 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. ( info)

14/24. 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. ( info)

15/24. Resolution of hypertensive encephalopathy and scleroderma renal crisis with an angiotensin receptor blocker.

    The use of an angiotensin ii type-1 receptor blocker for scleroderma renal crisis is controversial. We describe a 46-year-old woman presenting with a seizure secondary to hypertensive encephalopathy as the initial manifestation of scleroderma renal crisis. She had complete resolution of end organ damage with use of an angiotensin ii type-1 receptor blocker. There may be a role for angiotensin ii type-1 receptor blockers in the setting of scleroderma renal crisis with central nervous system involvement. ( info)

16/24. 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. ( info)

17/24. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1.

    OBJECTIVE: The objective of this study was to describe leukoencephalopathy, lacunar infarcts, microbleeds and macrobleeds in the context of a collagen IV A1 mutation. methods: We examined a family with autosomal dominant porencephaly, in whom a defect in collagen IV A1 was detected recently. The patients underwent neurological, ophthalmological, and cardiological examinations and magnetic resonance imaging of the brain. Electron microscopy of a skin biopsy was performed. Extensive laboratory screening was performed for thrombophilia and increased bleeding tendency. RESULTS: The porencephaly was symptomatic in the infantile period in two patients, whereas it led to only minor neurological dysfunction in their affected mother. However, she experienced development of recurrent strokes in her 40s. In addition to the porencephaly, all patients had a leukoencephalopathy, which was most severe in the mother. Her magnetic resonance imaging results also showed lacunar infarcts, macrobleeds and a multitude of microbleeds. No other risk factors for recurrent stroke were found. Electron microscopy showed interruptions of the basement membrane of skin capillaries and inhomogeneous thickening of the basement membrane with pools of basement membrane fragments. INTERPRETATION: Leukoencephalopathy, ischemic infarcts, microbleeds, and macrobleeds are indicative of an underlying microangiopathy, of which the best-known causes are hypertension, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and cerebral amyloid angiopathy. Mutations in collagen IV A1, a major component of the vascular basement membrane, appear to be another risk factor. ( info)

18/24. cadasil presenting with a movement disorder: a clinical study of a Chilean kindred.

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is a hereditary vascular disease that usually begins with migraine, followed by repeated strokes and progressive dementia. We describe an unusual clinical presentation of this condition in members of a Chilean family with an established NOTCH3 mutation. We report early clinical, neuropsychological, transcranial ultrasound, magnetic resonance imaging (MRI), cerebral blood flow, and skin biopsy findings on these patients. Of the patients, 2 presented with facial dystonia, 1 of whom had abnormal single photon emission computed tomography and transcranial ultrasound studies after normal brain MRI scans. Our report emphasizes that cadasil must be considered in the study of patients with secondary dystonia. ( info)

19/24. Correlation of cognitive status, MRI- and SPECT-imaging in cadasil patients.

    Although there is evidence for correlations between disability and magnetic resonance imaging (MRI) total lesion volume in autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil), the significance of structural MRI abnormalities for cognitive dysfunction remains controversial. We performed detailed neuropsychological testing, high resolution MRI, and Tc-99m-ethyl cysteinate-dimer SPECT in three cadasil patients. MR-images were rated independently by two investigators for the presence of white matter lesions, lacunar infarcts, microbleeds, and ventricular enlargement. Cortical atrophy was quantified by the use of automatic morphometric assessment of the cortical thickness. In addition, laboratory and patients' history data were collected in order to assess the individual vascular risk factor profile. The differences in cognitive performance between the three patients are neither explained by structural-, or functional neuroimaging, nor by the patient-specific vascular risk factor profiles. The neuroradiologically least affected patient met criteria for dementia, whereas the most severely affected patient was in the best clinical and cognitive state. Conventional structural and functional neuroimaging is important for the diagnosis of cadasil, but it is no sufficient surrogate marker for the associated cognitive decline. Detailed neuropsychological assessment seems to be more useful, particularly with respect to the implementation of reliable outcome parameters in possible therapeutic trials. ( info)

20/24. The R110C mutation in Notch3 causes variable clinical features in two Turkish families with cadasil syndrome.

    Mutations in Notch3 gene are responsible for the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil). It is a late onset neurological disorder recognized by recurrent strokes and dementia. We describe here the clinical and molecular findings of three unrelated Turkish families with cadasil syndrome. Two of the families were identified to have the same mutation, p.R110C (c.C328T), located in exon 3 of the Notch3 gene. Interestingly, the phenotypic expression of the disease in these two families was markedly different in severity and age of onset implicating additional genetic and/or non-genetic modulating factors involved in the pathogenesis. In addition, we identified the novel p.C201R (c.T601C) mutation in exon 4 of the Notch3 gene in a proband of the third family with two consecutive stroke-like episodes and typical MRI findings. Mutations described here cause an odd number of cysteines in the N-terminal of the EGF domain of Notch3 protein, which seems to have an important functional effect in the pathophysiology of cadasil. The phenotypic variability in families carrying the same molecular defect as presented here makes the prediction of prognosis inconceivable. Although dna analysis is effective and valuable in diagnosing approximately 90% of the cadasil patients, lack of genotype-phenotype correlation and prognostic parameters makes the presymptomatic genetic counseling very difficult. ( info)
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