Biomedical subjects

H Chabriat

Publications and source records attributed to H Chabriat.

63 records · Page 4Linked to original sources

PubMed1993

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has been recently reported as a cause of stroke. It is characterized, in the absence of hypertension, by recurrent subcortical ischaemic strokes, starting in early or midadulthood and leading in some patients to dementia. Magnetic resonance imaging and pathological examination show numerous small subcortical infarcts and a diffuse leukoencephalopathy underlaid by a non-arteriosclerotic, non-amyloid angiopathy. We performed genetic linkage analysis in two unrelated families and assigned the disease locus to chromosome 19q12. Multilocus analysis with the location scores method established the best estimate for the location of the affected gene within a 14 centimorgan interval bracketed by D19S221 and D19S222 loci.

Adult↗

PubMed1993

A gene for familial hemiplegic migraine maps to chromosome 19.

Familial hemiplegic migraine is an autosomal dominant disorder of unknown pathogenesis in which the migrainous attacks are marked by the occurrence of a transient hemiplegia during the aura. While investigating CADASIL, mapped previously to chromosome 19, we observed that some patients had recurrent attacks of migraine with aura. Although the clinical and neuroimaging features of familial hemiplegic migraine differ markedly from CADASIL, we hypothesized that the same gene could be involved in the pathogenesis of both conditions. We chose two large pedigrees for linkage analysis of familial hemiplegic migraine. A maximum lod score > 8 was found with two markers that are also strongly linked to CADASIL. Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19.

Adolescent↗

PubMed1992

Cortical metabolism in posterolateral thalamic stroke: PET study.

In 8 patients with small unilateral posterolateral thalamic (or, in one case, thalamocapsular) stroke (infarction or hemorrhage) selected on strict clinical (pure hemisomatosensory deficit without hemiparesis, visual field defect or neuropsychological impairment) and MRI criteria, we studied cortical energy metabolism using positron emission tomography with the 18F-fluorodeoxyglucose or the 15O-oxygen method. We found no significant ipsi- or contra-lateral metabolic depression either in the whole cortical mantle or in the sensorimotor cortex. These results support the hypothesis that location of thalamic stroke is a major determinant of the ipsilateral cortical hypometabolism characteristic of cognitively impaired patients with thalamic lesions and further emphasize the influence of the "non-specific" thalamocortical system on resting cortical metabolism. The lack of sensorimotor cortex hypometabolism in our patients suffering from hemidysesthesia and/or -hyperpathia also suggests that cortical metabolism is unaltered in thalamic pain.

Aged↗

PubMed1992

In-vivo SPECT imaging of D2 receptor with iodine-iodolisuride: results in supranuclear palsy.

We assessed the potential use of [123I]iodolisuride (ILIS), a new iodine ergolene derivative, to study human striatal D2 dopamine receptors with SPECT. In normal subjects, we found that the tracer accumulated preferentially in striatum. This was prevented by high doses of haloperidol. The striatal accumulation was maximal between 60 and 180 min after injection. The striatum-to-cerebellum radioactivity concentration ratio as an index of specific binding, measured 60 min after injection, was 1.52 +/- 0.19 (mean +/- s.d.) in controls and 1.36 +/- 0.11 in patients with supranuclear palsy (p less than 0.03). Our results show that ILIS may be used to study D2 receptors with SPECT. In-vivo changes of D2 receptors in human brain may be detected with this method.

Adult↗

PubMed1992

[Positron emission tomography and migraine].

Positron emission tomography (PET) is a brain imaging technique that allows in vivo studies of numerous physiological parameters. There have been few PET studies in migraine patients. Cerebral blood flow changes with no variations in brain oxygen consumption have been reported in patients with prolonged neurologic manifestations during migraine attacks. Parenteral administration of reserpine during migraine headache has been followed by a fall in the overall cerebral uptake of glucose. The small sample sizes and a number of methodologic problems complicate the interpretation of these results. Recent technical advances and the development of new PET tracers can be expected to provide further insight into the pathophysiology of migraine. Today cerebral cortex 5 HT2 serotonin receptors can be studied in migraine patients with PET.

Cerebrovascular Disorders↗

PubMed1990

[Opthalomoplegic migraine].

We report the case of a 24 year old man with a 22 year history of attacks of migraine without aura and attacks of ophthalmoplegic migraine. A persistent right 3rd nerve palsy appeared after the 17th attack. Although its existence has been debated, ophthalmoplegic migraine is recognized as such in the International Headache Society (IHS) classification. A review of published cases satisfying the IHS diagnostic criteria for ophthalmoplegic migraine is presented.

Adult↗

PubMedDate not supplied

Vascular dementia: the role of cerebral infarcts.

Although vascular dementia (VaD) is the second most frequent cause of dementia after Alzheimer disease (AD), the concept remains controversial in terms of delineation. The objective of this review is to investigate, from available literature, the role of cerebral infarcts in the pathogenesis of VaD and to identify areas of interest that need further evaluation and research. The incidence of new onset dementia is increased after stroke. Stroke subtypes, total volume of cerebral infarction and functional tissue loss, and location of the lesions are probably the major determinants of VaD. Any cause of stroke can lead to VaD. In some circumstances the causal relation between stroke and dementia is clear: (1) in young patients who are unlikely to have associated Alzheimer pathology; (2) when the cognitive functioning was normal before stroke, impaired immediately after, and does not worsen over time; (3) when the lesions are located in strategic areas; and (4) when a well-defined vasculopathy known to cause dementia is proven. However, several issues remain unsolved in VaD: lack of specificity of the diagnostic criteria; influence of white matter changes and associated Alzheimer pathology; influence of preexisting cognitive status; possibility of having VaD without stroke and the clinical relevance of silent infarcts to VaD; and best therapeutic strategy to be used to prevent VaD and to prevent stroke in patients with VaD. These questions form the basis for proposals for future research.

Cerebral Infarction↗

PubMedDate not supplied

Cognitive alterations in non-demented CADASIL patients.

CADASIL is an inherited small-artery disease of the brain due to mutations of the Notch3 gene on chromosome 19. It is characterized by strokes, migraine with aura, and severe mood disturbances during mid adulthood and leads progressively to subcortical dementia. The precise onset of the cognitive decline in CADASIL remains unknown. We report here the cognitive evaluation of 8 non-demented symptomatic patients with CADASIL from 35 to 66 years of age. Altered performances were found in all subjects with the Wisconsin Card-Sorting Test (WCST), in 5/8 with the Trail-Making Test, and in 3/8 with copying of Rey's figure. Altered performances with codes and similarities of the WAIS-R, the Wechsler Memory Scale, Raven's Progressive Matrices, and the category and letter fluency task were observed less frequently (n < or = 2). The score obtained with the WCST was not significantly correlated with the severity of the white-matter or basal ganglia signal abnormalities at MRI examination. Our data show that: (1) symptomatic CADASIL patients, although non-demented, can present with a subtle cognitive impairment; (2) tasks involving the frontal lobes are found most frequently altered, and (3) this subtle cognitive deficit can develop in the absence of major vascular events and does not appear to be correlated with the severity of brain lesions as seen at MRI examination.

Adult↗

PubMedDate not supplied

[Sturge-Weber angiomatosis responsible for hemiplegia without cerebral infarction in term pregnancy].

During the third quarter of her pregnancy, a young woman with Sturge-Weber angiomatosis had a severe right hemiplegia with hemianopia and aphasia, followed 48 hours later by focal seizures. Neuroimaging did not show any cerebral lesion but contrast magnetic resonance imaging revealed a left hemispheric pial angiomatosis. The patient recovered progressively from the third day after a ceasarean. The hemianopia disappeared within 15 days, the hemiplegia within one month and the aphasia greatly improved within 3 months. Ten weeks after the clinical onset, we performed a positron emission tomography study. A decrease from 15 to 40% of the cerebral radioactivity was observed after injection of water (H2(15)O) or fluorodesoxyglucose (18FDG) in the left temporooccipital area adjacent to the meningeal angiomatosis. A chronic and focal olighemia, already reported in Sturge-Weber angiomatosis, might participate in the occurrence of this cortical metabolic depression.

Adult↗