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1.
Neurology ; 64(9): 1586-91, 2005 May 10.
Article in English | MEDLINE | ID: mdl-15883321

ABSTRACT

BACKGROUND: An international study of the epidemiologic characteristics of Creutzfeldt-Jakob disease (CJD) was established in 1993 and included national registries in France, Germany, Italy, the Netherlands, Slovakia, and the United Kingdom. In 1997, the study was extended to Australia, Austria, Canada, Spain, and Switzerland. METHODS: Data were pooled from all participating countries for the years 1993 to 2002 and included deaths from definite or probable CJD of all etiologic subtypes. RESULTS: Four thousand four hundred forty-one cases were available for analysis and included 3,720 cases of sporadic CJD, 455 genetic cases, 138 iatrogenic cases, and 128 variant cases. The overall annual mortality rate between 1999 and 2002 was 1.67 per million for all cases and 1.39 per million for sporadic CJD. Mortality rates were similar in all countries. There was heterogeneity in the distribution of cases by etiologic subtype with an excess of genetic cases in Italy and Slovakia, of iatrogenic cases in France and the UK, and of variant CJD in the UK. CONCLUSIONS: This study has established overall epidemiologic characteristics for Creutzfeldt-Jakob disease (CJD) of all types in a multinational population-based study. Intercountry comparisons did not suggest any relative change in the characteristics of sporadic CJD in the United Kingdom, and the evidence in this study does not suggest the occurrence of a novel form of human bovine spongiform encephalopathy infection other than variant CJD. However, this remains a possibility, and countries currently unaffected by variant CJD may yet have cases.


Subject(s)
Creutzfeldt-Jakob Syndrome/mortality , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Australia/epidemiology , Canada/epidemiology , Causality , Child , Creutzfeldt-Jakob Syndrome/classification , Europe/epidemiology , Female , Genetic Predisposition to Disease/epidemiology , Geography , Global Health , Humans , Iatrogenic Disease/epidemiology , Male , Middle Aged , Mortality/trends , Population Surveillance/methods , Prion Diseases/etiology , Prion Diseases/mortality , Sex Factors , Zoonoses/epidemiology , Zoonoses/transmission
2.
Neuroradiology ; 44(3): 223-6, 2002 Mar.
Article in English | MEDLINE | ID: mdl-11942376

ABSTRACT

A 48-year-old man suddenly developed clinically and electroencephalographically nonspecific dementia. On MRI sequences, only diffusion-weighted images (DWI) of the cortex were unequivocally pathological. Obvious atrophy and basal ganglia signal changes appeared only 9 months after the onset. Brain biopsy confirmed Creutzfeldt-Jakob disease (CJD). In rapidly progressive dementia, we recommend DWI for early diagnosis of CJD.


Subject(s)
Brain/pathology , Creutzfeldt-Jakob Syndrome/diagnosis , Magnetic Resonance Imaging , Contrast Media , Electroencephalography , Gadolinium DTPA , Humans , Magnetic Resonance Spectroscopy , Male , Middle Aged , Time Factors
3.
Neuropathol Appl Neurobiol ; 28(1): 42-7, 2002 Feb.
Article in English | MEDLINE | ID: mdl-11849562

ABSTRACT

Meningiomas comprise a wide range of morphological patterns. We describe unusual fibrous meningeal tumours in two patients, composed of extensive non-calcifying collagenous whorls of varying size, resembling non-calcified psammoma bodies, while interposed tumour cells are sparse. Immunohistochemistry showed expression of S-100, vimentin and glial fibrillary acidic protein, whereas only single tumour cells stained for epithelial membrane antigen. Electron microscopy detected desmosomes or desmosome-like structures in both specimens. We conclude that these tumours represent a peculiar whorling-sclerosing variant of fibrous meningioma. Recognition of this meningioma variant is important in the differential diagnosis of meningioma versus other fibrous tumours of the meninges, including solitary fibrous tumours of the meninges, unusual forms of desmoplastic gliomas or chondroid tumours.


Subject(s)
Meningeal Neoplasms/pathology , Meningioma/pathology , Aged , Collagen/analysis , Diagnosis, Differential , Female , Glial Fibrillary Acidic Protein/analysis , Humans , Magnetic Resonance Imaging , Male , Meningeal Neoplasms/chemistry , Meningioma/chemistry , Microscopy, Electron , Middle Aged
4.
Acta Neuropathol ; 101(5): 417-23, 2001 May.
Article in English | MEDLINE | ID: mdl-11484812

ABSTRACT

In neurodegenerative disorders including Alzheimer's disease (AD), free radical damage to lipids, carbohydrates, proteins and DNA has been demonstrated to play a key pathogenetic role. In vitro studies have suggested a function of the cellular prion protein (PrPc) in the defense against oxidative stress. Therefore, we investigated the distribution of PrPc immunoreactivity in hippocampus (sectors CA4-CA1), subiculum (Sub), entorhinal (EC), and temporal cortex (TC) in sections from AD, human transmissible spongiform encephalopathy (TSE) and control brains. Compared to control cases, AD brains revealed an increase in the proportion of PrPc-immunoreactive neurons, which was statistically significant in CA2, Sub, and TC. In TSEs, a statistically significant increase of PrPc-immunoreactive neurons was observed in CA2, CA1, Sub, EC, and TC. In conclusion, our data show a striking up-regulation of PrPc in neurodegeneration and provide additional support for the concept that PrPc may be involved in the defense against oxidative stress.


Subject(s)
Alzheimer Disease/pathology , Brain/pathology , Neurons/pathology , Oxidative Stress/physiology , PrPC Proteins/analysis , Prion Diseases/pathology , Up-Regulation/physiology , Adult , Aged , Aged, 80 and over , Alzheimer Disease/physiopathology , Brain/physiopathology , Cell Count , Female , Humans , Immunohistochemistry , Male , Middle Aged , Prion Diseases/physiopathology
5.
Herz ; 26(4): 287-90, 2001 Jun.
Article in English | MEDLINE | ID: mdl-11479941

ABSTRACT

BACKGROUND: Left ventricular hypertrabeculation (LVHT) has not been described in myotonic dystrophy Type I (MD1) before. CASE REPORT: A 42-year-old man developed typical features of MD1 since 1992. Creatinekinase was slightly, but recurrently elevated. Needle electromyograms were myogenic and showed extensive spontaneous activity. Muscle biopsy was compatible with MDI. DNA analysis revealed a heterozygous 300 CTG-repeat expansion in the myotonic-dystrophy proteinkinase gene on chromosome 19q13.3. Cardiac history and clinical cardiologic examination were normal. On ECG, ST elevation and atrial flutter were found. The AECG was normal except for atrial flutter. Surprisingly, transthoracic echocardiography revealed LVHT, previously described only in Becker's muscular dystrophy, mitochondriopathies, and Barth syndrome. CONCLUSION: A rare cardiac manifestation of MD1 may be LVHT which alone has no therapeutic implication.


Subject(s)
Atrial Flutter/etiology , Cardiomyopathies/etiology , Heart Ventricles , Myotonic Dystrophy/complications , Adult , Atrial Flutter/diagnosis , Echocardiography , Electrocardiography , Humans , Male , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Trinucleotide Repeats
6.
Neuroradiology ; 43(11): 997-1000, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11760809

ABSTRACT

Parkinson's disease may be due to primary or secondary oxidative phosphorylation (OXPHOS) defects. In a 76-year-old man with Parkinson's disease since 1992, slightly but recurrently elevated creatine phosphokinase, recurrently elevated blood glucose, thickening of the left ventricular myocardium, bifascicular block and hypacusis were found. Cerebral MRI showed atrophy, periventricular demyelination, multiple, disseminated, supra- and infratentorial lacunas, and haemosiderin deposits in both posterior horns. Muscle biopsy showed typical features of an OXPHOS defect. Whether the association of Parkinson's disease and impaired OXPHOS was causative or coincidental remains unknown. Possibly, the mitochondrial defect acted as an additional risk factor for Parkinson's disease or the OXPHOS defect worsened the preexisting neurological impairments by a cumulative or synergistic mechanism. In conclusion, this case shows that Parkinson's disease may be associated with a mitochondrially or nuclearly encoded OXPHOS defect, manifesting as hypacusis, myopathy, axonal polyneuropathy, cardiomyopathy and recurrent subclinical ischaemic strokes and haemorrhages.


Subject(s)
Brain/pathology , Mitochondrial Diseases/complications , Parkinson Disease/etiology , Parkinson Disease/pathology , Aged , Humans , Magnetic Resonance Imaging , Male
7.
J Inherit Metab Dis ; 24(5): 560-76, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11757584

ABSTRACT

Despite continuously improving diagnostic facilities, respiratory chain disorders (RCDs) are easily overlooked or misdiagnosed. We thus studied phenotype variability and the diagnostic potential of clinical and laboratory investigations in patients with RCD. We retrospectively evaluated clinical and laboratory investigations in 130 patients with RCD: 63 women and 67 men, aged 17-87 years, diagnosed between January 1992 and December 1999. mtDNA mutations were found in 20 patients; a respiratory chain defect but no mutation in 4; an abnormal lactate stress test but no mutation or biochemical defect in 66; and ragged-red fibres or reduced oxidative enzyme staining but no mutation, biochemical defect or abnormal lactate stress test in 40 patients. The most frequent initial manifestation of RCD were limb weakness, muscle pain and sensory disturbances. The most frequent clinical findings at diagnosis were muscle pain, fatiguability, limb weakness, reduced tendon reflexes and muscle wasting, irrespective of the diagnostic evidence. Mean age at onset, disease duration and time until diagnosis were 39, 14 and 13 years, respectively, without sex differences. The family history was positive in 29% of the patients. Hyperlipidaemia was found in 45%, hyper-CK-aemia in 42%, short stature in 33%, thyroid dysfunction in 17%, diabetes in 12%, and epilepsy in 8% of the patients. Laboratory investigations that prove useful to support the diagnosis of RCD are muscle biopsy, electromyography, lactate stress testing, echocardiography and mtDNA analysis. Systems most often involved in RCDs were the PNS, CNS, endocrine system and heart. The diagnosis of RCD requires awareness of the great phenotypic heterogeneity and an individualized, integral, multidisciplinary approach.


Subject(s)
Electron Transport/physiology , Metabolism, Inborn Errors/genetics , Mitochondria/genetics , Adolescent , Adult , Age of Onset , Aged , Aged, 80 and over , Aging/metabolism , Body Height/physiology , DNA, Mitochondrial/analysis , DNA, Mitochondrial/genetics , DNA, Mitochondrial/metabolism , Disease Progression , Electron Transport/genetics , Enzymes/blood , Female , Gene Frequency , Humans , Male , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/pathology , Middle Aged , Mitochondria/metabolism , Mitochondria/pathology , Muscle, Skeletal/pathology , Phenotype , Retrospective Studies , Sex Characteristics
8.
Ann Neurol ; 48(5): 788-91, 2000 Nov.
Article in English | MEDLINE | ID: mdl-11079543

ABSTRACT

Fatal familial insomnia (FFI) is a unique hereditary prion disease with characteristic disturbances of sleep. We studied the serotonergic system in 8 FFI-affected subjects by immunohistochemistry for the serotonin-synthesizing enzyme, tryptophan hydroxylase (TH). Quantification of neurons in median raphe nuclei showed no total neuronal loss in FFI but a substantial increase of TH+ neurons (approximately 62%) in FFI subjects compared with controls. Our data indicate an alteration of the serotonergic system that might represent the functional substrate of some typical symptoms of FFI.


Subject(s)
Brain/pathology , Prion Diseases/pathology , Receptors, Serotonin/analysis , Adult , Aged , Female , Humans , Immunohistochemistry , Male , Middle Aged
9.
Article in English | MEDLINE | ID: mdl-10738863

ABSTRACT

Since there are only few data available about the lactate stress test in a group of patients with mitochondrial myopathy, we investigated the sensitivity of this test in a larger cohort of such patients. Serum lactate was determined before, during and after a 15 minute, constant 30 W workload on a bicycle ergometer in 47 controls, aged 15 to 72 years and 54 patients with mitochondrial myopathy, aged 15 to 74 years. Lactate's upper reference limits at rest, 5, 10, 15 minutes after starting, and 15 minutes after finishing the exercise were 2.0, 2.1, 2.1, 2.1 and 1.8 mmol/l respectively. The sensitivity of the lactate-stress test was 69%. The lactate-stress test complements electrophysiological and bioptical findings and proved to be helpful in diagnosing mitochondrial myopathy.


Subject(s)
Ergometry/statistics & numerical data , Lactic Acid/blood , Mitochondrial Myopathies/diagnosis , Muscles/metabolism , Physical Exertion/physiology , Adolescent , Adult , Aged , Cohort Studies , Electromyography , Female , Humans , Male , Middle Aged , Mitochondria, Muscle/metabolism , Mitochondria, Muscle/pathology , Mitochondrial Myopathies/blood , Mitochondrial Myopathies/metabolism , Muscle Contraction/physiology , Muscle Fibers, Skeletal/pathology , Muscles/pathology , Muscles/physiology , Oxidative Stress
10.
Ann Neurol ; 45(6): 812-6, 1999 Jun.
Article in English | MEDLINE | ID: mdl-10360778

ABSTRACT

A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)). This observation further underlines the role of codon 129 on the mutated PRNP allele in modulating the phenotype of familial prion diseases.


Subject(s)
Creutzfeldt-Jakob Syndrome/genetics , Prions/genetics , Valine/genetics , Aged , Blotting, Western , Female , Genotype , Humans , Mutation/genetics , Pedigree , Phenotype
11.
J Toxicol Clin Toxicol ; 36(4): 369-73, 1998.
Article in English | MEDLINE | ID: mdl-9711205

ABSTRACT

CASE REPORT: A 42-year-old man with a history of Billroth II-gastrectomy, chronic alcoholism, and malnutrition developed acute tetraparesis, two days before admission. He presented with bilateral, proximal upper and lower limb weakness, limb girdle wasting, bilaterally reduced Achilles tendon reflexes, and bilateral stocking-type sensory disturbances. Laboratory data revealed hypokalemia (2.2 mmol/L), elevated creatine kinase (7282 U/L), metabolic alkalosis and reduced urine potassium, albumin, and total protein. Muscle biopsy showed atrophic, necrotic, and regenerating fibers, endomysial macrophages, and vacuolar degeneration, interpreted as hypokalemic myopathy. With the correction of the serum potassium, tetraparesis rapidly resolved. With other causes excluded, malnutrition and gastrectomy were considered responsible for hypokalemia in this patient with acute tetraparesis and chronic alcoholism.


Subject(s)
Alcoholism/complications , Hypokalemia/etiology , Muscular Diseases/etiology , Nutrition Disorders/complications , Acute Disease , Adult , Gastrectomy/adverse effects , Humans , Hypokalemia/blood , Hypokalemia/drug therapy , Hypokalemia/pathology , Male , Muscle, Skeletal/pathology , Muscular Diseases/blood , Muscular Diseases/drug therapy , Muscular Diseases/pathology , Potassium/blood , Potassium/therapeutic use , Quadriplegia/etiology
12.
Skull Base Surg ; 8(4): 215-9, 1998.
Article in English | MEDLINE | ID: mdl-17171069

ABSTRACT

A case of a xanthogranuloma arising in the anterior skull base involving the bone of the left orbital roof, the dura mater, and the periorbit is presented. The lesion was completely removed by a supraorbital "eyebrow" skin incision using frameless stereotactic image guidance. A reconstruction of the orbital roof was performed using a titanium mesh graft. The neuropathological investigation revealed all the characteristics of a xanthogranuloma. Intracranially, xanthogranulomas appear as rare tumors of the dura or choroid plexus, usually arising in association with histocytosis X or familial hyperlipoproteinemia. One case not associated with these diseases is discussed.

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