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At least 451 records · Page 25Linked to original sources
PubMed2006

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.

Adult↗
PubMed2004

Role of neuroimaging in our understanding of the pathogenesis of primary headaches.

This article reviews new advances in neuroimaging of primary headaches. Imaging of the brain is reaching a new stage of maturity as the basic neural systems that participate in the pathogenesis of headaches are identified. Given the rapid advances in functional neuroimaging, it is no surprise that recent studies have supported the neurovascular theory of migraine and cluster headache. It is clear that functional neuroimaging will continue to be of paramount importance and ultimately may serve as the bridge between molecular and clinical domains in the field of headache research.

Brain↗
PubMed2005

Common versus uncommon causes of dementia.

When patients present with a dementia syndrome at a young age, the experienced clinician will automatically include uncommon dementias in the diagnostic considerations, as familial uncommon dementias due to genetic mutations frequently present as early-onset dementias. This paper highlights why uncommon dementias due to genetic mutations, although marginal in terms of prevalence numbers in the total population, are of significance in the quest to unravel the underlying cause of common dementias such as Alzheimer's disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementias (FTD) and vascular dementia (VaD).

Age of Onset↗
PubMed2004

Familial multiple sclerosis and other inherited disorders of the white matter.

BACKGROUND: An objective demonstration of lesions disseminated in time and space remains the core of the last revision of diagnostic criteria for multiple sclerosis (MS), but this update is now empowered by a weighted use of magnetic resonance imaging (MRI), which results in an earlier and more unambiguous diagnosis ("MS," "not MS," or "possible MS"). Nevertheless, the exclusion of other entities still remains an integral element of the diagnostic process. REVIEW SUMMARY: Exclusion of genetic disorders can be challenging in some cases with familial recurrence of MS, particularly when the transmission is mimicking a mendelian or a maternal pattern of inheritance. Vice versa, many forms of mendelian leukodystrophies and leukoencephalopathies present with juvenile or adult onset, progressive or relapsing-remitting courses, intrafamilial phenotypic heterogeneity and MRI signs of multifocal white matter (WM) pathology, features potentially leading to a temporary confusion with MS. With the recent availability of disease modifying medications in MS, the development of specific molecular therapies in inherited WM disorders, and the general recognition of the effectiveness of early treatments, the accuracy of initial diagnostic assessment has become critical. CONCLUSION: Considering the importance of disease specific treatments, here we review the major characteristics of familial MS and some of the inheritable diseases of the WM. Although no direct genetic link between MS and these WM abnormalities is known, molecular data from the field of rare genetic disorders may also provide some experimental paradigms to a further exploration of MS.

Brain↗
PubMed2005

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.

Acute Kidney Injury↗
PubMed2006

Brain imaging in psychiatry - a study of 435 psychiatric in-patients at a university clinic.

OBJECTIVE: The use of brain imaging in psychiatry still lacks clear guidelines. We investigated the referral practice, outcome and predictive factors of neuroimaging in a Swiss psychiatric university clinic. METHOD: Medical files were reviewed retrospectively for 435 consecutively hospitalized patients who were subjected to neuroimaging. The association between the sociodemographic and clinical characteristics and the scan results was analyzed using bivariate and multivariate analyses. RESULTS: Of overall examinations, 69.4% were normal, 16.3% equivocal and 14.3% abnormal; 2.9% of scans ordered for screening only showed pathology. Neurologic signs and advanced age of patients predicted abnormal scan findings, whereas other variables such as EEG results showed no significant association. CONCLUSION: Our results support the need for clear indications for using brain imaging in psychiatric in-patients. Focal neurologic signs and advanced patient age seems to predict abnormal scan results. However, these criteria are not sufficiently sensitive to predict significant scan findings in all patients.

Adult↗
PubMed2006

Cerebral microhemorrhage.

BACKGROUND AND PURPOSE: With the advent of modern MRI imaging techniques, cerebral microhemorrhages have been increasingly recognized on gradient-echo (GE) or T2*-weighted MRI sequences in different populations. However, in clinical practice, their diagnostic value, associated risk, and prognostic significance are often unclear. This review summarizes the pathophysiology, differential diagnosis, epidemiology, and clinical significance of cerebral microhemorrhages. SUMMARY OF REVIEW: Focal areas of signal loss on GE MRI imaging pathologically represent focal hemosiderin deposition associated with previous hemorrhagic events. Cerebral microhemorrhages have been noted in healthy elderly, ischemic cerebrovascular disease, intracerebral hemorrhage (ICH), cerebral amyloid angiopathy (CAA), and in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Microhemorrhages have been associated with older age, hypertension, smoking, white matter disease, lacunar infarcts, previous ischemic stroke, or ICH. In CAA, microhemorrhages predict both the risk of recurrent lobar ICH and future clinical decline. In patients with ischemic cerebrovascular disease, microhemorrhage number and location may be associated with executive dysfunction and may predict the occurrence of ICH and lacunar infarction. CONCLUSIONS: When cerebral microhemorrhages are diagnosed on MRI, conclusions regarding their significance and associated risks should be made based on the population examined. Further studies to characterize the associated risks of cerebral microhemorrhages in different stroke populations are needed to use this new imaging marker in therapeutic decisions.

Aged↗
PubMed2005

Notch signaling, brain development, and human disease.

The Notch signaling pathway is central to a wide array of developmental processes in a number of organ systems, including hematopoiesis, somitogenesis, vasculogenesis, and neurogenesis. These processes involve maintenance of stem cell self-renewal, proliferation, specification of cell fate or differentiation, and apoptosis. Recent studies have led to the recognition of the role of the Notch pathway in early neurodevelopment, learning, and memory, as well as late-life neurodegeneration. This review summarizes what is currently known about the role of the Notch pathway in neural stem cells, gliogenesis, learning and memory, and neurologic disease.

Animals↗