Biomedical subjects
W A van Gool
Publications and source records attributed to W A van Gool.
The use of apolipoprotein E genotyping as a diagnostic test in suspected Alzheimer's disease.
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[Current diagnostic tests for Alzheimer's disease in clinical practice].
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[The role of apolipoproteins E genotyping in the differential diagnosis of dementia].
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Impact on management of new diagnostic tests in Alzheimer's disease.
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[Spongiform encephalopathy in cattle and humans].
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[Creutzfeldt-Jakob disease: diagnosis in 10 patients].
OBJECTIVE: To describe experiences with the diagnosis of Creutzfeldt-Jakob disease (CJD). SETTING: Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands. DESIGN: Descriptive. METHODS: By retrospective analysis of patient files and follow-up data case histories were studied of ten patients diagnosed since 1980 as having CJD. RESULTS: Follow-up of two patients (who recovered) led to rejection of the diagnosis of CJD. Symptoms and results of ancillary investigations of the remaining eight patients were similar to those in large patient series from the literature. CONCLUSIONS: On the basis of our experience and data from the literature we conclude that a classification can be made of three degrees of probability of the diagnosis CJD: possible (rapidly progressive dementia with or without myoclonus); probable (if the clinical syndrome is accompanied by triphasic complexes in the EEG and/or hyperintense basal ganglia or (parts of) the cerebral cortex on T2-weighted MRI images); and certain (vacuolisation, neuronal loss and gliosis on neuropathological examination).
Dementia and subnormal levels of vitamin B12: effects of replacement therapy on dementia.
Routine determination of serum vitamin B12 levels is generally recommended as part of the screening of demented patients, based on the notion that vitamin B12 deficiency is one of the causes of reversible dementia. We studied the effects of vitamin B12 replacement therapy in a prospective longitudinal study at a memory clinic, with special emphasis on assessment of severity of dementia: not only cognitive deterioration, but also disability in the activities of daily life, behavioural problems, and the burden experienced by the caregiver were examined using instruments of proven validity. In a series of 170 consecutive patients with dementia, subnormal serum vitamin B12 levels were found in 26 cases (15%); all but one fulfilled diagnostic criteria for possible Alzheimer's disease. Cobalamin supplementation was given to all patients and the effect was evaluated after 6 months. When the size and pattern of individual change scores, and the mean change scores on all instruments were taken into account, functioning after replacement therapy was not improved. When change scores of treated patients were compared with those of patients with Alzheimer's disease (n = 69), vitamin B12 replacement did not result in slowing of the progression of dementia. Contrary to widely accepted beliefs, subnormal serum vitamin B12 levels are not a (quantitatively) important cause of reversible dementia.
[Prion disease: a new class of neurodegenerative disorders].
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Concentrations of amyloid beta protein in cerebrospinal fluid of patients with Alzheimer's disease.
Deposition of fibrillar amyloid beta protein (A beta) is increased in brains of patients with Alzheimer's disease. Concentrations of A beta were measured in cerebrospinal fluid with an enzyme-linked immunosorbent assay in 10 neurological patients free from neurodegenerative disease, 28 patients with Parkinson's disease, and 18 patients with probable Alzheimer's disease. Levels of A beta in cerebrospinal fluid were not significantly different among these groups. This observation suggests that concentrations of soluble A beta in cerebrospinal fluid as measured in this study do not reflect the amount of fibrillar, aggregated A beta in the brain of patients with Alzheimer's disease.
A case-control study of apolipoprotein E genotypes in Alzheimer's disease associated with Down's syndrome. Dutch Study Group on Down's Syndrome and Ageing.
The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic criteria for AD and in 26 DS controls matched for age, sex, and premorbid level of mental retardation. A meta-analysis of data available in the literature was used for comparison with allele frequencies in other AD and control populations. ApoE type 2, 3, or 4 allele frequencies were not significantly different in AD-DS cases and DS controls. The ApoE epsilon 4 frequency in DS cases with AD (0.14; CI, 0.06-0.26) was significantly lower than in any other AD population studied so far and it is within the range of nondemented controls from the general population. These findings suggest that ApoE epsilon 4 does not significantly affect the pathogenesis of AD in DS patients.
Visual assessment of medial temporal lobe atrophy on magnetic resonance imaging: interobserver reliability.
We conducted an interobserver study to assess agreement on visual rating of medial temporal lobe atrophy on coronal T1-weighted MRI. A total of 100 studies of elderly individuals, using two different MRI techniques (spin echo and inversion recovery sequences), were analysed by four raters (three neurologists and one neuroradiologist) using a five-point rating scale. Complete agreement was found in 37% of the total sample. Interobserver agreement as expressed by kappa values was 0.44 (95% CI = 0.34-0.54) and 0.51 (95% CI = 0.41-0.61) for the two techniques. After dichotomizing medial temporal lobe atrophy into present or absent, a post hoc analysis revealed higher complete agreement (70%), with kappa values of 0.59 (95% CI = 0.51-0.67) and 0.62 (95% CI = 0.48-0.075), for the two techniques (all four raters). From this study we conclude that visual rating of medial temporal lobe atrophy on MRI in the coronal plane yields fair to good agreement among observers. We recommend this type of visual rating for use in clinical settings when a quick judgement on the presence of medial temporal lobe atrophy is needed.
Hypokinesia and presenile dementia in a Dutch family with a novel insertion in the prion protein gene.
The clinical features and disease course of six patients from a family with autosomal dominant inheritance of presenile dementia and a hypokinetic syndrome are described. In the past, these patients have carried diagnoses of Pick's disease, Huntington's disease, Parkinson-dementia, and one patient was described as suffering from a 'peculiar type of presenile dementia' in a case report. In the two cases examined, the most distinctive neuropathological features were extensive globular deposits of periodic acid-Schiff plus diastase (PAS)-positive material, having tinctural properties of amyloid only to a limited degree, in the cerebellum and cerebral cortex. These globules stained positively with antibodies against prion protein. Southern blot of MspI-digested genomic DNA showed an abnormal band of approximately 950 bp in all three patients from which material was available. Direct sequencing of the abnormal allele revealed an insert consisting of eight extra 24-nucleotide repeats in the patients, which was absent in a healthy first degree relative who was considered well beyond the age of onset of symptoms in this family. The nucleotide sequence of the abnormal insert of 192 bp was different from that of a previously described insert of equal length. Adding to previous descriptions of mutations in the prion protein gene, this report emphasizes the clinical, neuropathological and genetic heterogeneity of inherited prion disease.
The need for a "second witness" in diagnosing dementia.
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Diagnosis of Alzheimer's disease by apolipoprotein E genotyping.
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Concentrations of amyloid-beta protein in cerebrospinal fluid increase with age in patients free from neurodegenerative disease.
Cerebral deposition of amyloid-beta protein (A beta) is central to the pathogenesis of Alzheimer's disease (AD). Increasing age is one of the few definitively established risk factors for this disease. The concentration of A beta was measured in cerebrospinal fluid (CSF) with a sensitive enzyme-linked immunosorbent assay in 18 adult neurological patients free from neurodegenerative disease. CSF A beta increased with age, yielding a significant correlation of 0.84. This observation suggests that increased levels of A beta in CSF may be an index of age-related changes in the processing of the amyloid-beta precursor protein resulting in an increased risk for AD.
[Current aspects of Alzheimer's disease].
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Inflammatory mechanisms in Alzheimer's disease.
Alzheimer's disease is aetiologically heterogeneous, but the pathogenesis is often considered to be initiated by the deposition of amyloid fibrils, followed by neuritic tau pathology and neuronal death. A variety of inflammatory proteins has been identified in the brains of patients with Alzheimer's disease post mortem. In this article, Piet Eikelenboom and colleagues review evidence to suggest that the inflammatory processes are intimately involved in several crucial events in the pathological cascade. This suggests possibilities for the treatment of Alzheimer's disease with anti-inflammatory drugs.