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Biomedical subjects

M G Bousser

Publications and source records attributed to M G Bousser.

At least 127 records · Page 7Linked to original sources
PubMed1996

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.

Stroke is the third leading cause of death, and vascular dementia the second cause of dementia after Alzheimer's disease. CADASIL (for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) causes a type of stroke and dementia whose key features include recurrent subcortical ischaemic events and vascular dementia and which is associated with diffuse white-matter abnormalities on neuroimaging. Pathological examination reveals multiple small, deep cerebral infarcts, a leukoencephalopathy, and a non-atherosclerotic, non-amyloid angiopathy involving mainly the small cerebral arteries. Severe alterations of vascular smooth-muscle cells are evident on ultrastructural analysis. We have previously mapped the mutant gene to chromosome 19. Here we report the characterization of the human Notch3 gene which we mapped to the CADASIL critical region. We have identified mutations in CADASIL patients that cause serious disruption of this gene, indicating that Notch3 could be the defective protein in CADASIL patients.

Adult↗
PubMed1996

Coagulation studies, factor V Leiden, and anticardiolipin antibodies in 40 cases of cerebral venous thrombosis.

BACKGROUND AND PURPOSE: Cerebral venous thrombosis (CVT) is an infrequent condition with a large variety of causes. However, in 20% to 35% of cases, no cause is found. We studied coagulation parameters, including activated protein C resistance associated with factor V gene mutation (factor V Leiden) and anticardiolipin antibodies, in a large series of patients with CVT with or without identified cause or risk factor. METHODS: Forty patients (30 women and 10 men) aged 19 to 71 years (mean age, 36.2 years) with CVT diagnosed by angiography and/or MRI were studied 1 to 18 years after thrombosis. No known cause was found in 10 idiopathic cases. Coagulation studies included the following tests: fibrinogen, antithrombin, protein C, protein S, plasminogen, anticardiolipin antibodies, activated protein C resistance, and factor V Leiden. RESULTS: Six cases of thrombophilia (15%) were found: 1 protein C deficiency, 1 protein S deficiency, and 4 activated protein C resistance with heterozygous factor V Leiden mutation (10%). Only 1 case (protein S deficiency) was found in the group of 10 patients with idiopathic CVT. In the other 5, there was another cause or risk factor. Three patients (8%) had increased anticardiolipin antibodies: 1 with systemic lupus and 2 with primary antiphospholipid syndrome; 2 of these 3 patients also had factor V Leiden mutation. CONCLUSIONS: Although present in a number of CVT cases, acquired (anticardiolipin) or congenital varieties of thrombophilia (factor V Leiden being the most frequent) are almost invariably associated with other predisposing factors. This suggests that (1) these abnormalities should be looked for in patients with CVT, whether a cause is found or not, and (2) their presence should not deter the search for other potential causes. The detection of such abnormalities has major practical consequences on the long-term management of patients to prevent further thrombotic episodes.

Adult↗
PubMed1996

Long-term prognosis in cerebral venous thrombosis. Follow-up of 77 patients.

BACKGROUND AND PURPOSE: Very little is known about the long-term outcome of patients with cerebral venous thrombosis (CVT), particularly regarding the risk of residual epilepsy and further thrombotic events. We retrospectively studied 77 patients with CVT diagnosed by angiography and/or MRI. METHODS: A cohort of 77 patients aged 18 to 77 (mean, 38.5) years with CVT, evaluated from 1975 through 1990, was followed up for a mean of 77.8 months (range, 14 to 204 months; median, 63 months). Information on death, neurological status, seizures, recurrent CVT, other thrombotic events, and subsequent pregnancies was obtained from direct observation, mail questionnaire, or telephone interviews. RESULTS: Sixty-six of 77 patients (85.7%) had no neurological sequelae during follow-up. Eleven patients (14.3%) remained neurologically impaired. Two who initially presented with isolated intracranial hypertension had blindness due to optic atrophy. The other 9 had focal signs at the time of CVT and were left with various cognitive or focal deficits. Four of 28 (14.3%) patients who had seizures at the acute stage had recurrent seizures. One of the 51 patients with lateral sinus thrombosis developed a dural arteriovenous fistula. Nine of the 77 patients (11.7%) suffered a second CVT, all but one in the first year. Noncerebral thrombotic events occurred in 11 patients (14.3%). No recurrence of CVT occurred during later pregnancies, but 1 patient had a postpartum deep vein thrombosis. CONCLUSIONS: In the present series, CVT has an essentially good long-term prognosis. The frequency of long-standing epilepsy was low, suggesting that long-term anticonvulsant treatment is not necessary in the majority of cases. A second CVT or another thrombotic episode occurred in 20% of patients, stressing the need in a minority of cases for long-term anticoagulation.

Adolescent↗
PubMed1996

Post-stroke changes in cortical 5-HT2 serotonergic receptors.

UNLABELLED: Fluorine-18-setoperone PET imaging was used to investigate serotonergic 5-HT2-specific binding in unlesioned cerebral cortex in stroke patients. METHODS: Seventeen stroke patients (mean age 50 +/- 31 yr) with right (n = 9) or left (n = 8) chronic stroke (middle or anterior cerebral artery territory) underwent [18F]setoperone PET and MR imaging. The distribution volume of the 5-HT2-specific binding at equilibrium (DVSe) was determined in the unlesioned cortical regions. The results were compared with those obtained in 14 age-matched controls. In addition, we investigated the effect of the side of the stroke, lesion volume and its localization. RESULTS: After removing the age effect by covariance analysis, we found a significant DVSe decrease in the temporal (p < 0.05) and frontal (p < 0.05) unlesioned cortices ipsilateral to the stroke. The changes were similar in patients with left and right stroke and did not correlate with the volume of the stroke. However, the localization of the stroke affected the topography of DVSe abnormalities. When the lesion did not extend more medially than the internal capsule, DVSe was significantly reduced in the temporal lobe (-30%, p < 0.05) but not in the frontal lobe (-21%, p = ns). Conversely, when the lesion extended subcortically in the anteromedial region, close to the midline, DVSe was reduced in both temporal (-40%, p < 0.05) and frontal (- 49%, p < 0.05) lobes. CONCLUSION: This study confirms that stroke may alter 5-HT2 receptors in large unlesioned cortical areas and that the changes depend on the subcortical extent of the lesion.

Adult↗
PubMed1996

[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)].

Recently identified, CADASIL is a diffuse disease of small arteries, predominating in the brain. It starts during mid-adulthood and is characterized by recurrent ischemic events (transient or permanent), attacks of migraine with aura, severe mood disorders, subcortical dementia and, at MRI, a white spread leukoencephalopathy. There is so far no specific treatment and death occurs after a mean of twenty years. CADASIL is an autosomal dominant condition and the gene Notch 3 is located on chromosome 19, in the same region as another neurological disorder, familial hemiplegic migraine.

Brain Ischemia↗
PubMed1995

Case-control study of migraine and risk of ischaemic stroke in young women.

OBJECTIVE: To determine whether migraine is a risk factor for ischaemic stroke in young women. DESIGN: A case-control study. SETTING: Five hospitals in Paris and suburbs. SUBJECTS: 72 women aged under 45 with ischaemic stroke and 173 controls randomly selected from women hospitalised in the same centres. MAIN OUTCOME MEASURES: Ischaemic stroke confirmed by cerebral computerised tomography or magnetic resonance imaging; history of headache recorded with structured interview, and diagnosis of migraine assessed by reproducibility study. RESULTS: Ischaemic stroke was strongly associated with migraine, both migraine without aura (odds ratio 3.0 (95% confidence interval 1.5 to 5.8)) and migraine with aura (odds ratio 6.2 (2.1 to 18.0)). The risk of ischaemic stroke was substantially increased for migrainous women who were using oral contraceptives (odds ratio 13.9) or who were heavy smokers (> or = 20 cigarettes/day) (odds ratio 10.2). CONCLUSIONS: These results indicate an independent association between migraine and the risk of ischaemic stroke in young women. Although the absolute risk of ischaemic stroke in young women with migraine is low, the reduction of known risk factors for stroke, in particular smoking and use of oral contraceptives, should be considered in this group.

Adolescent↗
PubMed1995

[Hemiplegic migraine].

By analogy with ophthalmic migraine, hemiplegic migraine is defined by the occurrence during the attacks of unilateral weakness. This simple definition is however far from reflecting the wide range of clinical situations reported under this term. Familial hemiplegic migraine (FHM) is a well individualized autosomal dominant condition. Attacks start in childhood, adolescence, or early adulthood. They invariably include a unilateral weakness lasting 30 to 60 minutes and almost always associated with visual, sensory, or speech disturbances. They are occasionally very severe with a dense hemiplegia, confusion, coma or fever, but they always completely recover. Brain neuroimaging is normal. In 20% of the families, migraine is associated with permanent neurological signs, mainly nystagmus and cerebellar ataxia. FHM is a genetically heterogeneous condition, with half of the families linked to chromosome 19 and the other half in which this link is excluded. By contrast to FHM, which is a well defined entity, other varieties of so called hemiplegic migraine do not deserve to be individualized as such. They include attacks of migraine with typical aura when a unilateral weakness is part of the aura, severe hemiplegic attacks similar to those reported in FHM but sporadic, migrainous infarcts with hemiplegia, and, for some authors, alternating hemiplegia of childhood. The pathogenesis of all these conditions and of migraine itself remaining largely unknown, it is currently impossible to know whether or not they share common pathophysiologic mechanisms. The identification of the gene on chromosome 19 and the discovery of other genes will be major steps to elucidate this question.

Adolescent↗
PubMed1995

A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.

Hereditary paroxysmal cerebellar ataxia (HPCA) is an autosomal dominant disorder characterized by the recurrence of intermittent attacks of vestibulocerebellar ataxia lasting from 15 minutes to a few days. The number of attacks is often significantly decreased by acetazolamide treatment. Neurological examination shows a permanent gaze-evoked nystagmus, as well as a mild cerebellar ataxia in most patients. The paroxysmal feature of this condition is shared by another autosomal dominant neurological condition, familial hemiplegic migraine (FHM), a condition in which permanent cerebellar signs have also been reported in some families. Although hemiplegic migraine has never been reported in patients with HPCA, we hypothesized, based on the latter observations, that HPCA and FHM may be allelic disorders. We previously mapped a gene responsible for FHM on the short arm of chromosome 19. We performed linkage analysis with 6 markers spanning the FHM interval on a large HPCA family. Significant lod scores were obtained with 3 markers: D19S244 (LS = 3.71), D19S221 (3.60), and D19S226 (3.54) at theta = 0. Haplotype and multipoint linkage analysis established that the most likely location was the same interval of 30 cM encompassing the chromosome 19 FHM locus.

Cerebellar Ataxia↗
PubMed1995

5HT2 receptors in cerebral cortex of migraineurs studied using PET and 18F-fluorosetoperone.

Since the brain 5HT2 receptors might be implicated in migraine pathogenesis, we have used positron emission tomography and 18F-fluorosetoperone, a 5HT2 specific radioligand, to investigate in vivo the cortical 5HT2 receptors in migraine subjects. Nine migraineurs who had either migraine with and without aura (n = 5) or only migraine without aura (n = 4) were studied between attacks. Twelve unmedicated healthy subjects of similar mean age were used as controls. Brain radioactivity was measured after 18F-setoperone IV injection for 90 min. A decrease of the regional specific distribution volumes (SDV) of the ligand was observed both in migraineurs and in controls. The age adjusted group means of SDV did not differ between patients and controls for the whole and for the right or left frontal, temporal, parietal and occipital cortex. These results suggest that cortical 5HT2 receptors may be unaltered between attacks in migraine sufferers.

Adult↗
PubMed1995

Time course of symptoms in extracranial carotid artery dissections. A series of 80 patients.

BACKGROUND AND PURPOSE: Cerebral infarction is the most frequent and severe manifestation of extracranial internal carotid artery dissection. However, few data exist on the precise time course of symptoms preceding the onset of stroke. METHODS: We studied 80 consecutive patients (29 retrospectively, 51 prospectively) with angiographically diagnosed extracranial internal carotid artery dissection and, during a 6-month follow-up, recorded the time elapsed between the onset of the first symptoms and the onset of any ischemic event (transient ischemic attack or stroke). We compared patients with and without ischemic events, with and without completed stroke, and, among patients who had local signs at onset, those with and without subsequent ischemic events. RESULTS: Cerebral or retinal infarction occurred in 42 patients. It was inaugural in 9 patients. In the 33 others, the time interval between the first symptoms (local signs and/or transient ischemic attacks) and the onset of stroke ranged from a few minutes to 31 days; it was < or = 7 days in 82% of the patients. No significant difference in the baseline characteristics of the patients or in the angiographic pattern of dissection was found based on the presence or absence of ischemic signs or of completed stroke. CONCLUSIONS: In carotid artery dissections, completed stroke usually occurs in the first few days after the onset of the first symptoms, whether local or ischemic, but it can occur as much as 1 month later. This suggests that any potential preventive treatment should be initiated as early as possible after the onset of the first symptoms but might also be worth initiating even 1 month later.

Adolescent↗
PubMed1995

[Anatomy of the circle of Willis with 3D time of flight magnetic resonance angiography and analysis of partitions].

The purpose of this study was to analyse with 3D TOF MR angiography the anatomical variants of the circle of Willis (CW) in 109 consecutive patients. In all cases, the quality of exams was sufficient to analyse the anatomy of CW. Nevertheless, MRA over estimated hypoplastic segments because incomplete CW were more frequently demonstrated with MRA than in anatomic literature. This lack of MRA sensitivity was related to artifacts as MIP artifacts and blood flow artifacts. MRA sensitivity was improved by analysis of partitions with MIP reconstructions.

Aged↗
PubMed1995

[Transient cerebral ischemic complications. The neurologist's point of view].

Transient ischaemic attacks (TIA) are defined by the focal and sudden loss of a cerebral function or the vision of one eye, resolving without sequelae within 24 hours and related to a vascular cause, thromboembolic much more frequently than haemodynamic. TIA represent between 9% and 25% of all cerebrovascular accident (CVA) with a variable global incidence from one study to another, between 0.2 and 3.3/1,000/year. The natural history of TIA is characterized by an excess mortality and an increased risk of cerebral infarction and myocardial infarction. It is therefore essential to recognize these events in order to prescribe effective preventive treatment. The clinical picture is characterized by a usually brief focal deficit (2 to 30 min, on average) and a normal clinical examination. The diagnosis is therefore exclusively based on the clinical interview. Complementary investigations have a dual objective: 1) to eliminate other diseases likely to cause transient neurological manifestations, and 2) to detect the mechanism and cause of cerebral ischaemia; the commonest causes are atheromatous stenosis and emboligenic heart disease. In addition to the routine laboratory examinations, basic complementary investigations consist of cerebral CT scan, cervical ultrasound and echocardiography. Conventional angiography is performed less and less frequently due to the progress in ultrasound and vascular imaging (helicoidal CT scan and magnetic resonance angiography). The treatment of TIA is designed to prevent cerebral and myocardial infarction, and to decrease the cardiovascular mortality [2]. In the short-term, it is essentially based on heparin, while waiting for the results of the aetiological assessment.(ABSTRACT TRUNCATED AT 250 WORDS)

Arteriosclerosis↗