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  • 1
    Electronic Resource
    Electronic Resource
    Fetal Krabbe leukodystrophy (1981)
    Springer
    Acta neuropathologica 53 (1981), S. 87-91 
    Details
    ISSN: 1432-0533
    Keywords: Fetal Krabbe leukodystrophy ; Galactosyl-ceramide-β-galactosidase ; Globoid cells ; Spinal cord ; Peripheral nerves
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-β-galactosidase was virtually absent in cultured amniotic cells. The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs. Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus. A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system. Although most of the cells containing the specific melusions are probably non-glial in nature, some of them could represent myelination glia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00689987
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  • 2
    Electronic Resource
    Electronic Resource
    Specific monoclonal antibodies against normal microtubule-associated protein-2 (MAP2) epitopes present in Alzheimer pathological structures do not recognize paired helical filaments (1992)
    Springer
    Acta neuropathologica 83 (1992), S. 179-189 
    Details
    ISSN: 1432-0533
    Keywords: Microtubule-associated protein-2 ; Somatodendritic distribution ; Alzheimer's disease ; Senile plaque neurites ; Paired helical filaments
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We have developed monoclonal antibodies that detect normal microtubule-associated protein-2 (MAP2) epitopes in routinely fixed, paraffin-embedded tissue. The somatodendritic distribution of MAP2 in bovine and human nervous tissue was confirmed with several of these antibodies. Furthermore, some of these antibodies immunohistochemically labeled certain pathological structures in Alzheimer brain, especially neurites in senile plaques. Electron microscopic observations, however, indicate that these MAP2 epitopes are not located in the Alzheimer paired helical filaments themselves, but in amorphous granular structures coexistent with them. While the pathological nature of these structures is undetermined, they may represent artefactual modifications of normal cytoskeletal components.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00308477
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  • 3
    Electronic Resource
    Electronic Resource
    Two cases of mucopolysaccharidosis type III (Sanfilippo) (1979)
    Springer
    Acta neuropathologica 46 (1979), S. 185-190 
    Details
    ISSN: 1432-0533
    Keywords: Mucopolysaccharidosis ; Sanfilippo disease type A ; Sanfilippo disease type C ; Zebra bodies ; Membrano-granulo-vacuolar inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Anatomopathological studies of one case of Sanfilippo disease types A and C, respectively, are presented. The storage phenomenon is very severe in the central as well as in the peripheral nervous system of both patients. Light microscopy does not show significant differences between the two cases. Electron microscopy of the nervous system reveals in both cases the presence of variable amounts of zebra bodies and of membrano-granulo-vacuolar inclusions. The presence of larger amounts of zebra bodies in the type A case and of larger quantities of membrano-granulo-vacuolar inclusions in the type C case constitute probably a non-distinctive feature between the two types. Light and electron microscopic studies of visceral organs do not disclose significant differences either. It is concluded that no major morphological differences between Sanfilippo disease types A and C can be observed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690842
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  • 4
    Electronic Resource
    Electronic Resource
    I-cell disease (1984)
    Springer
    Acta neuropathologica 64 (1984), S. 234-242 
    Details
    ISSN: 1432-0533
    Keywords: I-Cell disease ; Pathology of CNS ; Mesenchymal cells ; N-Acetylglucosamine-1-phosphotransferase ; Genetic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The results of postmortem examinations in four I-cell disease (ICD) patients, 2 weeks, 8.5 months, 4 and 10 years of age, respectively, are compared and evaluated. The most characteristic histological feature in ICD is the storage of membrane-bound vacuoles with fibrillo-granular contents in fibroblasts and of smaller inclusions with concentric ring-like profiles in endothelial cells. In older patients only, more heterogeneous cell inclusions with osmiophilic lamellar profiles may be found. The morphological lesions in the central nervous system (CNS) are hardly significant. Obvious abnormalities are present in the heart valves of even the very young patients, while alterations in the renal glomeruli are less severe in the long surviving patient. This difference may be viewed as histological confirmation of the proved genetic heterogeneity in ICD. The paradox of cell type-specific morphological findings on the one hand and the generalized deficiency of N-acetylglucosamine-1-phosphotransferase representing the primordial enzyme deficiency in ICD on the other, is resolved by postulating, outside the mannose-6-phosphate recognition marker targeting system, the existence of alternative mechanisms for distribution and processing of lysosomal enzymes in cells other than fibroblasts or endothelial cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688114
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  • 5
    Electronic Resource
    Electronic Resource
    Pleocore disease (1986)
    Springer
    Acta neuropathologica 72 (1986), S. 142-149 
    Details
    ISSN: 1432-0533
    Keywords: Congenital myopathy ; Minicores ; Multicores ; Focalloss of cross striations ; Pleocore disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report clinical and morphological data on seven patients with a congenital myopathy as well as data concerning five parents. Classical myopathies such as rod disease, centronuclear myopathy or central core disease could be ruled out. Structural abnormalities of intracellular organelles or particulate inclusions were rare and insignificant. The most prominent and constant features were minicores and focal loss of cross striations, associated with a prevalence of type 1 fibres, increasing with the age at time of biopsy. A carrier state could not be defined in the five examined parents neither on clinical nor on morphological grounds. Although our group of patients could not clinically be distinguished from other congenital myopathies, the combination of the lesions allow their individualization as a subgroup of multicore or minicore disease under the alreay proposed denomination of pleocore disease [Martin and Busch, abstract in Zentralbl Allg Pathol 124:156 (1980)]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00685976
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  • 6
    Electronic Resource
    Electronic Resource
    Skin and conjunctival biopsies in adrenoleukodystrophy (1977)
    Springer
    Acta neuropathologica 38 (1977), S. 247-250 
    Details
    ISSN: 1432-0533
    Keywords: Conjunctival biopsy ; Skin biopsy ; Adrenoleukodystrophy ; Nerve bundles ; Vacuolated eccrine glands
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Conjunctival and skin biopsies were performed in an 111/2 year-old caucasian male affected by adrenoleukodystrophy (ALD). In Schwann cells surrounding myelinated axons in conjunctival and dermal nerve bundles, empty clefts and a few arrays of lamellae were discovered. The vacuolization in the eccrine glands of the skin, another striking feature, has not been reported previously in ALD. The obtained results suggest that ALD can be diagnosed in skin specimens precluding major surgery for biopsy. They provide support to the hypothesis of Schaumburg et al. (1975) that ALD is a generalized metabolic disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688074
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  • 7
    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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  • 8
    Electronic Resource
    Electronic Resource
    Adrenomyeloneuropathy (1982)
    Springer
    Journal of neurology 226 (1982), S. 221-232 
    Details
    ISSN: 1432-1459
    Keywords: Adrenomyeloneuropathy ; Adrenoleukodystrophy ; Adrenal insufficiency ; Nerve twigs ; C26 fatty acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Adrenomyeloneuropathy (AMN) is reported in two kindreds. In the first family, four male patients were affected: two adults with the full clinical picture but with a different chronology of the main symptoms, a third adult with central nervous system involvement and a child who died early with adrenal insufficiency. The second family included two male patients with AMN, one adult with raised ACTH levels and his nephew with normal adrenal function. Two other young males died with adrenoleukodystrophy (ALD), one being subjected to a postmortem study. Clinical, endocrinological, neurophysiological and pathological studies were performed. The following conclusions can be made: (1) AMN and ALD are closely related entities; (2) there exists a considerable intrafamilial variability of the clinical picture; (3) AMN is to be included in the differential diagnosis of myelopathies and, conversely, signs of central nervous system damage must be sought in male patients with adrenal insufficiency; (4) electron microscopy of nerve twigs brings supportive diagnostic evidence pending the more widespread determination of the C26/C22 fatty acids ratios in cultured fibroblasts or plasma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00313395
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  • 9
    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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  • 10
    Electronic Resource
    Electronic Resource
    Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation (1998)
    Springer
    Acta neuropathologica 96 (1998), S. 253-260 
    Details
    ISSN: 1432-0533
    Keywords: Key words Congophilic angiopathy ; Amyloid ; precursor protein ; Dementia ; Neurofibrillary tangles ; Tau
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Mutations at codons 717 and 670/671 in the amyloid precursor protein (APP) are rare genetic causes of familial Alzheimer’s disease (AD). A mutation at codon 693 of APP has also been described as the genetic defect in hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D). We have reported a APP692Ala→Gly (Flemish) mutation as a cause of intracerebral hemorrhage and presenile dementia diagnosed as probable AD in a Dutch family. We now describe the post-mortem examination of two demented patients with the APP692 mutation. The neuropathological findings support the diagnosis of AD. Leptomeningial and parenchymal vessels showed extensive deposition of Aβ amyloid protein. Numerous senile plaques consisted of large Aβ amyloid cores, often measuring more than 30 μm in diameter and were surrounded by a fine meshwork of dystrophic neurites. In addition, there were a large number of paired helical filaments in pyramidal neurons and dystrophic neurites. Our findings show that the APP692 mutation leads to morphological abnormalities that are similar to AD, but the morphology of senile plaques is clearly distinct from that described in sporadic and chromosome 14-linked AD patients, in patients with APP717 mutations causing familial, presenile AD and in patients with the APP693 mutation causing HCHWA-D.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050892
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