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PubMed2003

The burden of brain diseases in Europe.

The burden [as defined by the World Health Organisation (WHO)] of brain diseases (neurological, neurosurgical and psychiatric diseases together) is very high and yet resources spent on these diseases are not necessarily commensurate with the extent of this burden. However, hard data on the burden of brain diseases in Europe have not previously been easily accessible. The Global Burden of Disease (GBD) 1990 study conducted jointly by the WHO, Harvard University and the World Bank provided new measures that are now becoming universally accepted and have been used also in a repeat study: The GBD 2000. The key parameter of the study is disability adjusted life years (DALY), which is the sum of years of life lost (YLL) caused by premature death and years of life lived with disability (YLD). In the present report, data from the GBD 2000 study and from the World Health Report 2001 on brain diseases is extracted for the territory of Europe. This territory corresponds roughly to the membership countries of the European Federation of Neurological Societies. The WHO's Report has a category called neuropsychiatric diseases, which comprises the majority but not all the brain diseases. In order to gather all brain diseases, stroke, meningitis, half of the burden of injuries and half of the burden of congenital abnormalities are added. Throughout Europe, 23% of the years of healthy life is lost and 50% of YLD are caused by brain diseases. Regarding the key summary measure of lost health, DALY, 35% are because of brain diseases. The fact that approximately one-third of all burden of disease is caused by brain diseases should have an impact on resource allocation to teaching, reasearch, health care and prevention. Although other factors are also of importance, it seems reasonable that one-third of the curriculum at medical school should deal with the brain and that one-third of life science funding should go to basic and clinical neuroscience. In addition, resource allocation to prevention, diagnosis and treatment of brain diseases should be increased to approach, at least, one-third of health care expenditure. With the present data on hand, neurologists, neurosurgeons, psychiatrists, patient organizations and basic neuroscientists have a better possibility to increase the focus on the brain.

Adolescent↗

PubMedDate not supplied

[Anticardiolipin antibodies in patients with ischemic brain disease].

Anticardiolipin antibodies are best defined antiphospholipid antibodies and a recently described marker of increased risk for ischemic brain disease. Investigations were performed in 151 patients with ischemic brain disease in order to determine the occurrence of anticardiolipin antibodies and define the clinical characteristics of patients with an increased titer of anticardiolipin antibodies. Measurement of anticardiolipin antibody titer was performed by immunoenzyme method. Besides, analyses of certain tests indicative for blood coagulative properties were also done. In addition, the occurrence of anticardiolipin antibodies was investigated in 49 patients with other non-immune neurological diseases and disorders. Control sera were obtained from 50 healthy subjects and 6 patients with senile cataract. Investigation showed the increase of anticardiolipin antibody titer in 22.8% of the patients with ischemic brain disease (30% with transient ischemic attacks, 19% with brain infarction) and in 4% of the patients with other neurological disorders of non-immunological genesis. The patients with increased titer of anticardiolipin antibodies suffered more frequently from recurrent forms of ischemic brain disease, all of them were below 50, and they had less risk factors for atherosclerosis and ischemic brain disease. It was concluded that the presence of increased titer of anticardiolipin antibodies in younger patients with recurrent forms of ischemic brain disease and less risk factors could be the marker of the increased risk for ischemic brain disease.

Adult↗

PubMed1983

The comparative effects of organic brain disease on cerebral blood flow and measured intelligence.

Raw scores for cerebral blood flow (CBF), determined by xenon 133 inhalation, and for Wechsler Adult Intelligence Scale (WAIS) were measured in five groups of 12 subjects each: young normals, aged normals, and patients with cerebrovascular disease without dementia, dementia with cerebrovascular disease, and degenerative brain disease. Important differences were present in the raw data according to age and sex. When these were adjusted, a quadratic model revealed a highly significant (p less than 0.0001, r = 0.86) correlation between CBF and measured intelligence score. We interpret these findings to indicate that in dementing illnesses the WAIS raw score reflects the severity of the brain disorder, regardless of cause, and that CBF is reduced as a function of the severity rather than the cause of the abnormality.

Adult↗

PubMed2003

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS), these three diseases are thought to result from a similar pathomechanism. Recently, we showed that MEB is caused by mutations in the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) gene. We describe here the identification of seven novel disease-causing mutations in six of not only non-Finnish Caucasian but also Japanese and Korean patients with suspected MEB, severe FCMD or WWS. Including six previously reported mutations, the 13 disease-causing mutations we have found thus far are dispersed throughout the entire POMGnT1 gene. We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5' terminus of the POMGnT1 coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3' terminus have milder phenotypes. Our results indicate that MEB may exist in population groups outside of Finland, with a worldwide distribution beyond our expectations, and that the clinical spectrum of MEB is broader than recognized previously. These findings emphasize the importance of considering MEB and searching for POMGnT1 mutations in WWS or other congenital muscular dystrophy patients worldwide.

Adult↗

PubMed2003

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

Muscle-eye-brain disease (MEB), an autosomal recessive disorder, is characterized by congenital muscular dystrophy, brain malformation, and ocular abnormalities. Previously, we found that MEB is caused by mutations in the gene encoding the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1), which is responsible for the formation of the GlcNAcbeta1-2Man linkage of O-mannosyl glycan. Although 13 mutations have been identified in patients with MEB, only the protein with the most frequently observed splicing site mutation has been studied. This protein was found to have no activity. Here, we expressed the remaining mutant POMGnT1s and found that none of them had any activity. These results clearly demonstrate that MEB is inherited as a loss-of-function of POMGnT1.

Abnormalities, Multiple↗

PubMed2000

Muscle membrane-skeleton protein changes and histopathological characterization of muscle-eye-brain disease.

Muscle-eye-brain disease belongs to congenital muscular dystrophies with central nervous system abnormalities. The etiology of MEB is still unknown, but abnormal immunoreactivity for laminin-2 has been reported. To evaluate disease progression in muscle tissue, 32 biopsy specimens from 17 muscle-eye-brain patients were analysed. The samples of four patients were studied by immunohistochemical techniques and by quantitative Western blotting. The samples showed a great variation in the muscle pathology. Regenerative fibers and mild fiber size variation were present in over 60%. At infancy, necrotic and regenerative fibers were common, while fat infiltration was the most prominent finding in the age group over five years. In quantitative studies, the amount of laminin alpha 2 chain was clearly reduced to 10-20% of normal. In contrast, laminin beta 2 chain was overexpressed in the Western blotting studies. These findings may reflect a yet unidentified primary disturbance in the basement membrane composition and function.

Adolescent↗

PubMed2004

Erythropoietin: novel approaches to neuroprotection in human brain disease.

With the increased life expectancy in western industrialized countries, the incidence and prevalence of brain diseases dramatically increased. Stroke and a wide spectrum of neuropsychiatric illnesses such as Alzheimer's disease, Parkinson's disease, multiple sclerosis, traumatic head injury, and schizophrenia all lead to severe disability. However, targeted effective therapies for treatment of these diseases are lacking. Even more frustrating is the fact that we do not yet clearly understand the basic mechanisms underlying the disease processes in these conditions. We propose a hypothesis of loss of neuronal function via a final common deleterious pathway in this clinically very heterogeneous disease group. This review presents a novel neuroprotective concept for treatment of brain disease: Erythropoietin (EPO). EPO is a natural body-own-protein hormone that has been used for treatment of anemia for more than a decade. The neuroprotective approach using EPO in brain disease represents a totally new frontier. The "Göttingen EPO-stroke trial" represents the first effective use in man of a neuroprotective therapy in an acute brain disease while the experimental EPO therapy to combat cognitive decline in patients with schizophrenia will be introduced as an example of a neuroprotective strategy for a chronic brain disease.

Animals↗

PubMed1978