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  • 1
    Electronic Resource
    Electronic Resource
    Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; Observations on kidney biopsy, peripheral nerve and cerebral white matter (1975)
    Springer
    Acta neuropathologica 33 (1975), S. 165-171 
    Details
    ISSN: 1432-0533
    Keywords: Adult metachromatic leukodystrophy ; Brain ; Peripheral nerve ; Kidney ; Electron microscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The fine structural characteristics of storage products in peripheral nerve, kidney and cerebral white matter, from a case of adult metachromatic leukodystrophy are described. There were pronounced differences from the fine structural aspects in late infantile cases. A large proportion of the inclusions did not exhibit a unit membrane. An hypothesis is proposed to clarify the delayed manifestation of this type of metachromatic leukodystrophy until adulthood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687542
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  • 2
    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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  • 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 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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  • 6
    Electronic Resource
    Electronic Resource
    Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX) (1984)
    Springer
    Acta neuropathologica 64 (1984), S. 259-264 
    Details
    ISSN: 1432-0533
    Keywords: Cerebrotendinous xanthomatosis ; Sural nerve ; Central nervous system ; Neuroaxonal degeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations. Another patient died, and a postmortem examination of both brain and spinal cord was made. It was concluded that both the central and the peripheral nervous system were involved in CTX, but the peripheral system only to a slight degree, and that the pathology was predominantly neuroaxonal rather than demyelinating in character.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688117
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  • 7
    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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  • 8
    Electronic Resource
    Electronic Resource
    Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 151-156 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, the cause of which has recently been identified as a deletion on chromosome 17p. The deletion corresponds to the duplication that is commonly observed in patients with hereditary motor and sensory neuropathy type Ia (HMSNIa, 17p11.2–p12). Therefore, the gene for peripheral myelin protein 22 (PMP-22) is a candidate gene for both HMSNIa and HNPP. Here, we show that a similar deletion is present in one family with HNPP but is clearly absent in another family. Affected members of this family carry the expected two copies of the PMP-22 gene and the surrounding region. Furthermore, linkage analyses of this family exclude a large part of 17p, spanning the area deleted in other families with HNPP, as the location for the disease gene. These data strongly argue for the existence of genetic heterogeneity underlying HNPP. Results from two-point linkage analysis with markers on chromosome 1q are inconsistent with a possible involvement of the locus for HMSNIb in the present family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210601
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  • 9
    Electronic Resource
    Electronic Resource
    Peripheral nerve elongation by laser Doppler flowmetry controlled expansion: morphological aspects (1995)
    Springer
    Acta neuropathologica 89 (1995), S. 166-171 
    Details
    ISSN: 1432-0533
    Keywords: Peripheral nerve ; Expansion ; Elongation ; Paranodal widening ; Remyelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Peripheral nerve elongation by a tissue expander may offer an alternative to nerve grafting in the management of segmental nerve loss. We investigated the morphological changes in peripheral nerve following slow nerve elongation by laser Doppler flowmetry controlled expansion in a rabbit sciatic nerve model. The animals were randomly assigned to one of four groups, with an expander volume of 0, 5, 10 or 15 cm3, respectively. An elongation of up to 40% was possible with preservation of clinical function. Nerve conduction velocity decreased in relation to elongation. Paranodal widening, followed by remyelination of the node, were early and constant morphological features. Demyelination and remyelination of whole internodes, and axonal degeneration occurred sporadically and did not correlate with elongation, rate of elongation or neurophysiological parameters. The model of laser Doppler flowmetry controlled nerve expansion provides a method for remodelling of myelin sheaths and lengthening of nerve fibers without axonal damage.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296361
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  • 10
    Electronic Resource
    Electronic Resource
    Congenital muscular dystrophy and severe central nervous system atrophy in two siblings (1995)
    Springer
    Acta neuropathologica 90 (1995), S. 650-656 
    Details
    ISSN: 1432-0533
    Keywords: Key words Congenital muscular dystrophy ; Cerebral atrophy ; Myelin deficiency ; Multisystem degeneration ; Sural nerve
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by spastic tetraplegia, contractures, polyneuropathy, lack of cognitive development and progressive microcephaly. There was no involvement of the eyes. Neuropathological examination of the brain of one sibling, who died at the age of 30 months, revealed subtotal loss of neurons in the cerebral and cerebellar cortex and in the ventral pons, and secondary loss of myelin in the cerebral and cerebellar subcortical white matter. Sural nerve biopsy in the other sibling, who had a similar neurological affection, showed a lack of large myelinated fibers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00318580
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