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  • 1
    Electronic Resource
    Electronic Resource
    Electron-microscopic heterogeneity of onion-bulb neuropathies of the Déjerine-Sottas type (1974)
    Springer
    Acta neuropathologica 27 (1974), S. 105-118 
    Details
    ISSN: 1432-0533
    Keywords: Dejerine-Sottas Polyneuropathy ; Onion-Bulbs ; Demyelination and Remyelination ; Basement Membranes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The microscopic and electron microscopic findings in sural nerve biopsies of a brother and sister with chronic polyneuropathy of the Dejerine-Sottas type resemble those reported by Lyon (1969). A genetically determined variant appears to be involved. The relationship between this syndrome and onion-bulb neuropathies is discussed. It seems unlikely that only segmental demyelination and remyelination is responsible for onionbulb formation. The relationship between axons in the layers of onion-bulbs and the central fibre is discussed, and between basement membranes and Schwann cell processes and the central fibre. Significant quantitative evidence of axon degeneration and regeneration after primary axon degeneration is pointed out. Earlier probable cases in the literature are reviewed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687161
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  • 2
    Electronic Resource
    Electronic Resource
    Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins (1981)
    Springer
    Acta neuropathologica 54 (1981), S. 11-17 
    Details
    ISSN: 1432-0533
    Keywords: Connatal Pelizaeus-Merzbacher disease ; Congenital stridor ; X-linked inheritance ; Psychomotor retardation ; Quantified cerebral morphology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two maternal cousins are described with the connatal form of Pelizaeus-Merzbacher Disease (PMD) and congenital stridor. Study of brain biopsy material confirms the diagnosis of PMD. The neuropathological findings are suggestive for the transitional form of this disease. Quantitative morphology gives support to the hypothesis that PMD is a disturbance in maturation of neurons and in myelin formation rather than an active degenerative process. The hereditary transmission is most consistent with a sex-linked recessive pattern. Different X-linked signs seem combined in the presented cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00691328
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  • 3
    Electronic Resource
    Electronic Resource
    Polyglucosan bodies in sural nerve biopsies (1990)
    Springer
    Acta neuropathologica 80 (1990), S. 554-557 
    Details
    ISSN: 1432-0533
    Keywords: Polyglucosan bodies ; Sural nerve biopsy ; Lafora's disease ; Ageing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The presence of polyglucosan bodies in sural nerves collected over a 16-year period was studied in relation to age, sex, presence of polyneuropathy, and concomitant presence of central nervous system disorder. Polyglucosan bodies have been seen in only one patient without a polyneuropathy. This patient was suffering from Lafora's disease. In all other sural nerves positive for polyglucosan bodies a polyneuropathy was present. Within this group the prevalence of polyglucosan bodies was positively correlated with age, and if a central nervous system disorder was associated, this prevalence was more distinct. With semiquantitative measurements of the surface of polyglucosan bodies a significant correlation was found between age and percentage of large bodies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294618
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  • 4
    Electronic Resource
    Electronic Resource
    Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? (1993)
    Springer
    Acta neuropathologica 86 (1993), S. 630-635 
    Details
    ISSN: 1432-0533
    Keywords: Chronic inflammatory demyelinating polyneuropathy ; Hereditary motor and sensory neuropathy type I ; Demyelinating neuropathy ; Mononuclear cell infiltrates ; Myelinated fibre-size histogram
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The pathological changes generally considered to distinguish chronic inflammatory demyelinating polyneuropathy (CIDP) from hereditary motor and sensory neuropathy (HMSN) are: mononuclear cell infiltrates, prominent endoneurial oedema, and marked fascicle-to-fascicle variability. We evaluated the diagnostic significance of these pathological features which are suggestive of CIDP. Nerve biopsies from 42 dominant HMSN type I cases with a normal disease course were investigated for the occurrence of inflammatory features. A small cluster of mononuclear cells was found in 12% of the cases and marked endoneurial oedema in 21%. Variability in pathology between the fascicles was not observed. The histogram configuration yielded additional information for differential diagnosis. Subsequently, we reviewed the clinical, electrophysiological and morphological features of 18 sporadic cases of chronic progressive demyelinating motor and sensory neuropathy with mainly classic onion bulbs in their nerve biopsies and a disease onset in the first decade. In all these patients DNA investigation for the 17p11.2 duplication was performed. According to the results of the DNA investigation, autosomal dominant HMSN type Ia was diagnosed in eight patients, although in six slight ‘CIDP-positive’ features were present. A diagnosis was definite or most probable CIDP in eight patients. In two patients no definite diagnosis could be made. Testing for the presence of the 17p11.2 duplication is, therefore, helpful in distinguishing between CIDP and HMSN type I. The diagnosis of CIDP requires careful evaluation of the clinical, electrophysiological and morphological data to avoid false-positive diagnoses of inflammatory disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294303
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  • 5
    Electronic Resource
    Electronic Resource
    The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease (1972)
    Springer
    Acta neuropathologica 21 (1972), S. 169-175 
    Details
    ISSN: 1432-0533
    Keywords: Batten's Disease ; Electron Microscopy ; Appendix ; Curvilinear Inclusion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The electron microscopic findings in the appendix of a five-year-old child suffering from Batten's disease are presented. They revealed accumulations of curviform densities in smooth muscle cells, nerve cells and Schwann cells of the myenteric plexus of Auerbach. Typical lipofuscin pigment was not observed. The presence of transitional forms, however, suggesting progressive transformation of the inclusions into lipofuscin-like granules, is briefly discussed. It is proposed that, during life, electron microscopy of the appendix might be useful for the diagnosis or more specific classification of a form of storage disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687571
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  • 6
    Electronic Resource
    Electronic Resource
    The neuropathy of Cockayne syndrome (1983)
    Springer
    Acta neuropathologica 61 (1983), S. 153-156 
    Details
    ISSN: 1432-0533
    Keywords: Cockayne syndrome ; Neuropathy ; Segmental demyelination ; Schwann cell inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We studied three unrelated infants and three adolescent siblings with Cockayne syndrome. The infants showed severe psychomotor retardation. Neurologic manifestations in the siblings were less severe and only slowly progressive. All patients had slowed peripheral nerve conduction. Nerve biopsies demonstrated segmental demyelination and remyelination in each case. In the infantile cases this process was severe and rapidly progressive; in the juvenile cases it was mild and chronic. Distinctive membrane-bound polymorphous inclusions were found in occasional Schwann cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00697396
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  • 7
    Electronic Resource
    Electronic Resource
    Congenital muscular dystrophy (1993)
    Springer
    Acta neuropathologica 86 (1993), S. 386-392 
    Details
    ISSN: 1432-0533
    Keywords: Congenital muscular dystrophy (CMD) ; Muscle biopsy ; Semiquantitative histological analysis ; Dystrophin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fukuyama CMD, F-CMD), involvement of the brain and the eyes in 5 patients (muscle, eye and brain disease, MEB-D) and hypodense white matter on the CT scans of 2 patients with (sub)normal intelligence (occidentaltype cerebromuscular dystrophy, O-CMD). No morphological hallmarks were found to differentiate these subgroups. Only fat cell infiltration was found to be increased with increasing age in ‘pure’ CMD (pure-CMD). The morphological data did not appear to be correlated with the clinical severity or type of dystrophy (pure-CMD, F-CMD, MEB-D and O-CMD). Immunohistochemistry with dystrophin, vimentin and desmin antibodies in 14 patients (6 pure-CMD, 5 F-CMD, 2 MEB-D and 1 O-CMD) showed a normal expression pattern.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00369452
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  • 8
    Electronic Resource
    Electronic Resource
    Hypertrophy of peripheral nerves in the syndrome of multiple mucosal neuromas, endocrine tumours and marfanoid habitus (1974)
    Springer
    Acta neuropathologica 30 (1974), S. 251-261 
    Details
    ISSN: 1432-0533
    Keywords: Dysautonomia ; Hypertrophic Neuropathy ; Sural Nerve Biopsy ; Syndrome of Multiple Mucosal Neuromas
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Sural nerve findings in a patient with the features of the syndrome of multiple mucosal neuromas are described. Hypertrophy with onion-bulb formation without signs of segmental de- and re-myelination or axonal de- and regeneration of myelinated fibers was found. A chronic process of de- and regeneration of unmyelinated fibers was found together with the clinical findings of a dysautonomia. This process was thought to be responsible for the hypertrophy and onion-bulb formation. These findings are in accordance with partial documentation on this subject described in some other patients with this syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688925
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  • 9
    Electronic Resource
    Electronic Resource
    Polyglucosan bodies in intramuscular motor nerves (1989)
    Springer
    Acta neuropathologica 77 (1989), S. 629-633 
    Details
    ISSN: 1432-0533
    Keywords: Polyglucosan bodies ; Muscle ; Nerve ; Lafora's disease ; Ageing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The presence of polyglucosan bodies was studied in intramuscular motor nerves of 292 muscle biopsies. These biopsies were classified into five diagnostic categories and investigated for the presence of polyglucosan bodies in relation to age and sex. Their presence was nonspecific in patients over 20 years, the only correlation being with ageing. Under 20 years, their presence pointed to the diagnosis of Lafora's disease. In cases in which both a muscle biopsy and a sural nerve biopsy were performed, the former appeared to contain these polyglucosans more frequently.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687891
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  • 10
    Electronic Resource
    Electronic Resource
    Neuropathological findings in muscle-eye-brain disease (MEB-D) (1991)
    Springer
    Acta neuropathologica 83 (1991), S. 55-60 
    Details
    ISSN: 1432-0533
    Keywords: Muscle-eye-brain disease ; Fukuyama type of congenital muscular dystrophy ; Neuropathological differentiation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00294430
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