http://repub.eur.nl/res/aut/9383/ List of Publications en http://repub.eur.nl/static-eur/img/logo.png http://repub.eur.nl http://repub.eur.nl/res/pub/25858/ 2011-04-26T00:00:00Z Posterior circulation stroke, which includes basilar artery occlusion (BAO), accounts for approximately 20% of all ischemic strokes. Much is unclear concerning the early historical descriptions of basilar artery occlusion, and some modern authors cite the historical sources incorrectly and incompletely. The case described by the Scottish physician John Abercrombie in 1828 is probably the first description of this form of stroke. The progressive bulbar signs that Abercrombie described in his case were striking, i.e., dysphagia and speech difficulties. Many authors in the 19th century described a waxing and waning clinical course for several days before profound coma and death. They also noticed signs and symptoms such as hemiplegia without loss of sensitivity and bulbar symptoms such as swallowing and speech impairment, vertigo, and altered consciousness. After Virchows epoch-making work on embolism and thrombosis, all authors correctly described BAO as resulting from emboli and thrombosis based on arteriosclerosis instead of ossification of the arterial walls or inflammation. Around 1880, the clinical symptoms of BAO were obviously well-known to the experienced clinician. In this article we offer a chronological description of historical sources. http://repub.eur.nl/res/pub/28059/ 2010-02-01T00:00:00Z One of the complexes formed by the hematopoietic transcription factor Gata1 is a complex with the Ldb1 (LIM domain-binding protein 1) and Tal1 proteins. It is known to be important for the development and differentiation of the erythroid cell lineage and is thought to be implicated in long-range interactions. Here, the dynamics of the composition of the complex - in particular, the binding of the negative regulators Eto2 and Mtgr1 - are studied, in the context of their genome-wide targets. This shows that the complex acts almost exclusively as an activator, binding a very specific combination of sequences, with a positioning relative to transcription start site, depending on the type of the core promoter. The activation is accompanied by a net decrease in the relative binding of Eto2 and Mtgr1. A Chromosome Conformation Capture sequencing (3C-seq) assay also shows that the binding of the Ldb1 complex marks genomic interaction sites in vivo. This establishes the Ldb1 complex as a positive regulator of the final steps of erythroid differentiation that acts through the shedding of negative regulators and the active interaction between regulatory sequences. http://repub.eur.nl/res/pub/30308/ 2008-02-01T00:00:00Z Background/Aims: The goal of the present study was to evaluate the diagnostic accuracy of the core diagnostic criteria for frontotemporal dementia (FTD) [Neary D, et al: Neurology 1998;51:1546-1554] within a memory clinic population. Methods: The 5 core diagnostic criteria for FTD were operationalised in an informant-based written questionnaire. For a diagnosis of FTD the total clinical picture was weighted with findings on additional investigations and possible exclusion criteria, with follow-up of at least 1 year. Results: The operationalised core criteria for FTD had a sensitivity of 79% (95% CI = 57-92) and a specificity of 90% (95% CI = 85-94). Conclusion: The core diagnostic criteria for FTD applied in a caregiver questionnaire have good diagnostic accuracy among subjects without advanced dementia attending a memory clinic. This stresses the importance of the informant-based history in the differential diagnosis of dementia. Copyright http://repub.eur.nl/res/pub/5886/ 1999-02-05T00:00:00Z We have assessed whether apolipoprotein E (ApoE) genotype influences the age of onset of dementia in a series of families with frontal temporal dementia with defined mutations in the tau gene. In contrast to the situation in Alzheimer's disease (AD), we could find no evidence that the age of onset of disease was influenced by the ApoE genotype. http://repub.eur.nl/res/pub/8481/ 1999-01-01T00:00:00Z Mutations in microtubule-associated protein tau recently have been identified in familial cases of frontotemporal dementia (FTD). We report the frequency of tau mutations in a large population-based study of FTD carried out in the Netherlands from January 1994 to June 1998. Thirty-seven patients had >/=1 first-degree relative with dementia. A mutation in the tau gene was found in 17.8% of the group of patients with FTD and in 43% of patients with FTD who also had a positive family history of FTD. Three distinct missense mutations (G272V, P301L, R406W) accounted for 15.6% of the mutations. These three missense mutations, and a single amino acid deletion (DeltaK280) that was detected in one patient, strongly reduce the ability of tau to promote microtubule assembly. We also found an intronic mutation at position +33 after exon 9, which is likely to affect the alternative splicing of tau. Tau mutations are responsible for a large proportion of familial FTD cases; however, there are also families with FTD in which no mutations in tau have been found, which indicates locus and/or allelic heterogeneity. The different tau mutations may result in disturbances in the interactions of the protein tau with microtubules, resulting in hyperphosphorylation of tau protein, assembly into filaments, and subsequent cell death. http://repub.eur.nl/res/pub/15785/ 1998-06-24T00:00:00Z At the turn of the nineteenth century into the 20th century many leading neurologists were active to devise new pathological or clinical classifications of the large group of dementing illnesses in later life, the 'dementia senilis' . Until then that eponym included every psychiatrie, behavioral and cognitive disturbance, occurring after middle age and leading to complete deterioration of the mental functions. In 1892, Arnold Piek (1851-1924), professor in neurology and psychiatry at the German University of Prague, reported a patient with a two-year history of progressive 'feeble-mindedness' , behavioral disturbances and eventually aphasia. Focal temporal atrophy of the brain was found at autopsy. Piek subsequently described a few more cases with frontal and temporal atrophy and considered this focal pathology as a localized type of 'seniIe dementia' and not a distinct disease-entity. However he suggested a possible clinical-pathological relation without being specific. Alois Alzheimer (1911) described the microscopical findings to become associated with 'Piek's disease": neuronalloss, spongiosis and gliosis in the frontal and temporal cortex, argentophilic granules in the neuronal cytoplasm pushing the nucleus towards the cell body (Pick bodies), and swollen neurons (Piek cells) in the absence of neurofibrillary tangles and plaques. Van Mansvelt (1953), in a review, classified Pick's disease according to the localization of atrophy into three types: frontal, temporal and mixed' Piek bodies were reported in only one third of the cases. For a diagnosis of Piek' s disease at that time, Piek bodies were not essential. Constantinidis (1974) classified frontotemporal atrophy into three types based on the presence of Piek bodies and Piek cells: (1) cases with: Piek bodies and swollen neurons, (2) cases with only swollen neurons, and cases without Pick bodies and Piek cells.' Fronto-temporal dementia in the absence of Piek bodies became also described by Brun as 'frontal lobe degeneration of non-Alzheimer type'. http://repub.eur.nl/res/pub/5772/ 1997-01-01T00:00:00Z Hereditary frontotemporal dementia (HFTD) is a rare autosomal dominant form of presenile dementia characterized by behavioral changes and reduced speech. Three multigeneration kindreds with this condition, in the Netherlands, were investigated for clinicopathological comparison and linkage analysis. Frontotemporal atrophy on computed tomographic scanning and/or magnetic resonance imaging was usually present. Single-photon emission computed tomography (SPECT) showed frontal hypoperfusion in the early phase of the disease. Brain tissue showed moderate to severe atrophy of frontal and temporal cortex with neuronal loss, gliosis, and spongiosis. Pick bodies were lacking in all cases of the 3 families. The mean age of onset varied significantly between families. We report here evidence for linkage to chromosome 17q21-q22 with a maximum lod score of 4.70 at theta = 0.05 with the marker D17S932. Recombination analysis positions the gene for HFTD in a region of approximately 5 cM between markers D17S946 and D17S791. Three other neurodegenerative disorders with a strong clinical and pathological resemblance have recently been mapped to the same chromosomal region, suggesting that a group of clinically related neurodegenerative disorders may originate from mutations in the same gene. http://repub.eur.nl/res/pub/5773/ 1997-01-01T00:00:00Z The apolipoprotein E gene has been associated with various types of dementia. We studied the connection between the APOE gene and the risk and onset of disease in 34 patients with clinically diagnosed frontal lobe dementia (FLD) derived from a population-based study in the Netherlands. A significant increased risk of FLD (odds ratio, 4.9; 95% CI, 1.1-20.1) was found for the apoE4E4 genotype when adjusting for age, sex, and family history of dementia other than FLD. The age at onset of the disease decreased as the number of APOE*4 alleles increased. Our population-based study suggests that persons who are homozygous for the APOE*4 allele are at increased risk for developing FLD. http://repub.eur.nl/res/pub/5756/ 1995-01-01T00:00:00Z