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  • 1
    Electronic Resource
    Electronic Resource
    Neuropathological findings of a patient with pyruvate dehydrogenase E1α deficiency presenting as a cerebral lactic acidosis (1993)
    Springer
    Acta neuropathologica 85 (1993), S. 674-678 
    Details
    ISSN: 1432-0533
    Keywords: Cerebral lactic acidosis ; Neuropathology ; Pyruvate dehydrogenase E1α deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Neuropathological findings are reported of a 6-month-old female child with a “cerebral” lactic acidosis. A mutation in the pyruvate dehydrogenase (PDH) E1α gene was found. Gross examination of the brain revealed a severe thinning of the cerebral parenchym, a marked hydrocephalus sparing the aqueduct and fourth ventricle, agenesis of the corpus callosum and heterotopic noduli of gray matter in subependymal regions. Microscopical examination showed heterotopic inferior olives, absent pyramids and focal neuroglial overgrowth into meninges. In addition some heterotopia of Purkinje cells and dysplasia of the dentate nuclei were observed. There was a marked vascular proliferation with many thin-walled, congestive vessels in the cerebral and cerebellar white matter, and to a lesser extent in the striatum. To our knowledge these cerebellar and vascular abnormalities have not been reported before in patients with “cerebral” lactic acidosis. The combination of these neuropathological findings might be characteristic for PDH deficiency and more specifically for its E1α subtype. Neuropathological examination could lead to the retrospective diagnosis of PDH E1α deficiency in those cases where biochemical investigations were not or incompletely performed. This may have potential implications for genetic counseling.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00334680
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  • 2
    Electronic Resource
    Electronic Resource
    On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 277-286 
    Details
    ISSN: 1432-0533
    Keywords: Key words Autosomal dominant disease ; Cone dystrophy ; Cerebellar atrophy ; Multiple system atrophy ; Linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310370
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  • 3
    Electronic Resource
    Electronic Resource
    On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 277-286 
    Details
    ISSN: 1432-0533
    Keywords: Autosomal dominant disease ; Cone dystrophy ; Cerebellar atrophy ; Multiple system atrophy ; Linkage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00310370
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  • 4
    Electronic Resource
    Electronic Resource
    Retrospective study of Creutzfeldt-Jakob disease in Belgium: neuropathological findings (2000)
    Springer
    Acta neuropathologica 99 (2000), S. 358-364 
    Details
    ISSN: 1432-0533
    Keywords: Key words Creutzfeldt-Jakob disease ; Dementia ; Spongiosis ; Neuronal loss ; Reactive gliosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Creutzfeldt-Jakob disease (CJD) is a spongiform encephalopathy that affects about 1 in 106 inhabitants in most countries. Recently, a new variant of CJD has been linked to the epidemic of bovine spongiform encephalopathy. Therefore, vigilance concerning the disease’s incidence has been increased. We conducted a comprehensive, nation-wide and retrospective study. In 79 Belgian autopsies, we found the characteristic triad of spongiosis, neuronal loss and reactive gliosis. The occipital cortex was most affected, while the cerebellum was mostly spared. Immunohistochemistry was performed using hydrated autoclave pretreatment and several monoclonal antibodies directed against the prion protein. We identified prion-immunoreactive patterns and locations reflecting the important heterogeneity, independently of the antibody that was used. Granular prion immunoreactivity was observed in astrocytes. We studied the regional intensity of the prion immunostaining and determined that the frontal cortex with 95% positive immunoreactivity was best suited for a biopsy. We studied the disease duration in sporadic CJD patients who showed neuropathological lesions of other neurodegenerative disorders (such as Alzheimer’s disease). The study shapes the framework in which a prospective neuropathological registry will be able to function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010051136
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  • 5
    Electronic Resource
    Electronic Resource
    Ultrastructural study of medullomyoblastoma (1979)
    Springer
    Acta neuropathologica 48 (1979), S. 211-214 
    Details
    ISSN: 1432-0533
    Keywords: Medullomyoblastoma ; Desmoplastic medulloblastoma ; Teratoid ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A case of cerebellar medullomyoblastoma in a young boy was investigated by electron microscopy. The neuroectodermal component shows the characteristics of a desmoplastic medulloblastoma. The mesodermal component consists of more or less differentiated cross-striated muscle cells. Undifferentiated muscle cells are very similar to proliferated endothelial cells of blood vessels within the muscular component, so that an origin of this component from pluripotential endothelial cells of the vessel wall is suggested. This tumor is considered a malignant teratoid because of the derivation from two blastodermic layers and because of the midline localization in children suggesting a malformative origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690521
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  • 6
    Electronic Resource
    Electronic Resource
    Focal ependymal differentiation in choroid plexus papillomas (1981)
    Springer
    Acta neuropathologica 53 (1981), S. 29-33 
    Details
    ISSN: 1432-0533
    Keywords: Choroid plexus papilloma ; GFA protein ; Immunoperoxidase ; Ependymal differentiation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Choroid plexus papillomas are usually easily distinguishable from papillary ependymomas by their delicate fibrovascular stroma and their cytologic similarity to normal choroid plexus epithelium. Exceptionally, however, examples are met which give rise to diagnostic difficulty. We therefore tested 22 choroid plexus papillomas for the presence of glial fibrillary acidic (GFA) protein using the immunoperoxidase technique. Positivity for the protein was found focally in epithelial tumor cells in nine of the 22 papillomas. All were in adults ranging from 19–66 years of age. Eight of the nine tumors originated in the 4th ventricle or from one of its lateral recesses. In six papillomas showing GFA protein in the cells, intracellular fibrils were found in a small number of elongated epithelial cells with the PTAH and/or Masson trichrome stains; in all these six cases, the GFA protein-positive cells were considerably more numerous than cells containing fibrils. Normal choroid plexus epithelium lacks GFA protein, but pathologically altered ependymal cells are often GFA protein-positive. Our findings therefore suggest that focal divergent glial (presumably ependymal) differentiation may be expressed in neoplastic choroid plexus epithelium, consistent with the origin of this epithelium from primitive neuroepithelial (ventricular) cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00697181
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  • 7
    Electronic Resource
    Electronic Resource
    Sarcomatose méningée expérimentale provoquée chez le raton par le virus polyome (1962)
    Springer
    Acta neuropathologica 1 (1962), S. 397-405 
    Details
    ISSN: 1432-0533
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Inoculation of polyoma virus into newborn rats can produce, a diffuse neoplastic process of the leptomeninges, which is comparable to the human primary leptomeningeal sarcomatosis and to the intracranial sarcomas produced by Rous virus in chickens and by polyoma virus in Syrian hamsters. The neuropathological features of these lesions are described. The same results were obtained by intravenous intracerebral or subcutaneous inoculation as well. The hydrocephalus can be explained by the proliferation of the tumour cells in the subarachnoïdal space. The authors point out that some hemorrhagic lesions result from the strangulation of blood vessels by neoplastic cuffs.
    Notes: Résumé L'inoculation du virus polyome chez le raton peut provoquer la formation d'un processus néoplasique diffus des leptoméninges, qui est comparable à la sarcomatose méningée primitive décrite chez l'homme et aux sarcomes intra-crâniens provoqués chez le poulet par le virus de rous et chez le hamster par le virus polyome. Les auteurs décrivent les aspects neuropathologiques de ces lésions et montrent qu'elles peuvent s'obtenir aussi bien par l'inoculation intra-veineuse, intra-cérébrale ou sous-cutanée du virus. Ils expliquent l'apparition de l'hydrocéphalie par l'invasion tumorale des espaces sous-arachnoïdiens. Ils montrent également que certaines lésions hémorragiques proviennent de la strangulation vasculaire par des manchons tumoraux.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687734
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  • 8
    Electronic Resource
    Electronic Resource
    Die Aktivität der Nucleasen im Zentralnervensystem der Ratte (1969)
    Springer
    Acta neuropathologica 12 (1969), S. 42-49 
    Details
    ISSN: 1432-0533
    Keywords: Enzyme-Histochemistry ; Nucleases ; DNase ; RNase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die alkalischen und sauren Nucleasen und Phosphatasen wurden im normalen Zentralnervensystem der Ratte histochemisch untersucht. Es wurde festgestellt, daß das histochemische Bild der Nucleasen und der entsprechenden Phosphatasen sehr verschieden ist. Die alkalischen Nucleasen waren nur im Ependymepithel, im Liquor, in Plexuskernen und in der Arachnoidea aktiv. Die sauren Nucleasen waren besonders aktiv in fast allen Nervenzellen, welche, wie allgemein bekannt, niemals oder sehr selten zu bösartigen Geschwülsten entarten. Man kann daher die Frage aufwerfen, ob nicht die niedrige saure Nucleasenaktivität ein prädisponierender Faktor für die neoplasmatische Entartung sein könnte.
    Notes: Summary Alkaline and acid nucleases and phosphatases in the central nervous system of the Wistar rat have been histochemically examined. It has been observed that the pattern of the nucleases was different from that of the corresponding phosphatases. The alcaline nucleases have been found positive in the ependymal cells, the cerebrospinal fluid, the arachnoid membrane and in the nuclei of the choroid plexus. The acid nucleases demonstrated an intensively positive reaction mainly in all neuronal cells, which, as it is generally accepted, are not at all or very seldom transformed into malignant neoplasms. From the last observation the question arises whether the deficient acid nucleases reaction might be considered as a predisposing factor of malignant transformation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00685309
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  • 9
    Electronic Resource
    Electronic Resource
    Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; Diagnostic muscle biopsy in the other (1979)
    Springer
    Acta neuropathologica 45 (1979), S. 67-72 
    Details
    ISSN: 1432-0533
    Keywords: Adult ceroid-lipofuscinosis ; Kufs' disease ; Retinal storage ; Visceral storage ; Muscle biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two brothers developed a neurological condition characterized by homochrony and homotypy: the first symptoms in both were generalized epileptic seizures, occurring at about the same age (30 years in the elder, 32 years in the younger), followed by a cerebellar syndrome with myoclonic jerks and some extrapyramidal symptoms. The elder of the two boys died at the age of 33 years. Histology showed extensive storage of ceroid-lipofuscin in the central nervous system (curvilinear bodies), in hepatocytes, in heart muscle and in the retina. In the younger boy, still living, a muscle biopsy (peroneal muscle) revealed accumulation of membrane-bound osmiophilic inclusions with curvilinear profiles. Retinal storage in Kufs' disease has never been documented. Muscle biopsy as a diagnostic tool for Kufs' disease has not been reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691807
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  • 10
    Electronic Resource
    Electronic Resource
    Use of positron emission tomography (PET) in stereotactic conditions for brain biopsy (1995)
    Springer
    Acta neurochirurgica 134 (1995), S. 79-82 
    Details
    ISSN: 0942-0940
    Keywords: Stereotactic biopsy ; positron emission tomography ; brain tumour
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In order to take advantage of the metabolic information provided by positron emission tomography (PET) in cases of brain tumour, we have developed a technique to integrate PET images routinely in the planning of stereotactic brain biopsy. We used stereotactic PET with [18F]-labelled fluorodeoxyglucose (PET-FDG) in 38 patients undergoing brain biopsy. To evaluate the contribution of PET-FDG in guiding brain biopsy, we analyzed the diagnosis provided by the 78 Stereotactic trajectories obtained in these patients. We found that stereotactic PET-FDG seemed to provide more information in cases of anaplastic astrocytomas and glioblastomas than in low-grade gliomas. Our results also show that biopsy trajectories performed in areas where increased FDG uptake is found within the lesion boundaries always provide interpretable specimens; this was not the case for trajectories guided by CT only. Therefore, the routine integration PET-FDG in the planning of stereotactic brain biopsy may lead to a reduction in sampling. Recently, we also tested consecutive stereotactic PET with [11C]-labelled methionine (PET-Met) and PET-FDG. This technique allowed us to compare accurately the tumoural glucose metabolism and protein synthesis. Our results suggest that stereotactic PET may increase the diagnostic yield of brain biopsy and may improve the understanding of PET in neuro-oncology.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01428509
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