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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is an autosomal recessive developmental disorder that occurs in an endogamous group of Vlax Roma (Gypsies; refs. 1–3). We previously localized the gene associated with CCFDN to 18qter, where a conserved ...
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 99 (2000), S. 539-546 
    ISSN: 1432-0533
    Keywords: Key words Diabetic neuropathy ; Collagen ; Extracellular matrix ; Nerve regeneration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The pattern of collagenisation in peripheral nerve in diabetic polyneuropathy was examined in nerve biopsy specimens from patients with diabetic polyneuropathy in comparison with organ donor control nerves and disease controls (other neuropathies). There was increased endoneurial collagenisation both in the diabetic polyneuropathy cases and the disease controls, this predominantly involving types I and III. Type II collagen was not detected in organ donor control nerves or in the diabetic and the disease control nerves. There was a relative increase in type VI collagen in the endoneurium in the diabetic nerves immediately surrounding groups of Schwann cells. This was not a feature in the other neuropathies. The quantity of types IV, V and VI collagen was increased around the endoneurial microvessels in the diabetic patients and, to a lesser extent, in those with hereditary motor and sensory neuropathy (HMSN). Increased deposition of types IV and V collagen was observed in the perineurium in the diabetic nerves, the latter being most evident in the innermost lamellae where the amount of laminin was possibly also increased. The diameter of the general endoneurial collagen fibrils was greater in the diabetic nerves, although this was not more than in a disease control (HMSN). The collagen fibrils that were present within the basal laminal tubes that had surrounded degenerated myelinated fibres in the diabetic nerves, and those within the onion bulbs of the HMSN cases, were of the normal endoneurial calibre. The expression of laminin by Büngner bands in diabetic neuropathy did not differ from that in disease control nerves, nor were any differences detected for fibronectin. Whether the changes observed are important for the impaired regenerative capacity in diabetic neuropathy requires further investigation.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 11 (1968), S. 93-102 
    ISSN: 1432-0533
    Keywords: Diabetic Neuropathy ; Hypertrophic Changes ; Nerve Biopsy ; Electron Microscopy ; Segmental Demyelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Beobachtungen an Nervenbiopsien bei 10 aufeinanderfolgenden Patienten mit diabetischer Neuropathie wurden unternommen. 1 Patient wies die für eine hypertrophische Neuropathie typischen licht-und elektronenmikroskopischen Veränderungen auf. 5 zeigten typische hypertrophische Veränderungen, die aber nur bei elektronenmikroskopischer Untersuchung sichtbar waren; bei weiteren wurden ähnliche geringe Veränderungen entdeckt. Es wird angenommen, daß diese Veränderungen durch segmentale Demyelinisation verursacht wurden.
    Notes: Summary Observations have been made on 10 consecutive nerve biopsies from patients with diabetic neuropathy. 1 patient showed the typical appearances of hypertrophic neuropathy on light and electron microscopy. 5 displayed typical hypertrophic changes visible only on electron microscopy and minor abnormalities of a similar nature were seen in 2 others. It was considered that they were likely to have resulted from recurrent segmental demyelination.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 14 (1969), S. 237-249 
    ISSN: 1432-0533
    Keywords: Electron Microscopy ; Wallerian Degeneration ; Nodal Changes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über ultrastrukturelle Veränderungen in den Ranvierschen Knoten des N.suralis der Ratte im Laufe der Wallerschen Degeneration berichtet. Die Untersuchungen erfolgten 12 und 120 Std nach einer örtlichen Quetschungsverletzung. Die ersten bemerkbaren Veränderungen finden sich im Axon. Nodale und paranodale Anhäufungen von Mitochondrien, multivesikulären und lamellären Körpern, wie auch kleinen blasen- und röhrenartigen Bildungen sind teilweise in den Knoten sichtbar und am deutlichsten nach 24–36 Std erkennbar. Gleichzeitig erfolgt eine Aufsplitterung der Neurofilamente und Neurotubuli, die ihre Liniengestaltung verlieren und sich zusammenballen. Die Zone der erhöhten Dichte gerade unterhalb des nodalen Axolemmas bleibt erhalten. Veränderungen im Myelin beginnen etwas später und bestehen in einem vesikulären Verfall der Endomyelinlamellen und einer Trennung der Endomyelinschlaufen vom Axolemma durch Schwannzellenfortsätze. Dieser Vorgang schien mit einem Zurückziehen des Myelins vom Knoten im Zusammenhang zu stehen. Schwannzellenfortsätze erstrecken sich auch so weit, daß sie das nodale Axon bedecken, wobei sie die nodalen Schwannzellenfortsätze vom Axolemma trennen. Das Endstadium ist die Unterbrechung des nodalen Axons und die Verschmelzung der Myelinenden als Teil der Ovoidbildung.
    Notes: Summary Observations are reported on the ultrastructural alterations at the nodes of Ranvier in the rat sural nerve during the course of Wallerian degeneration. These were examined between 12 and 120 hours after a localized crush injury. The earliest detectable changes are in the axon. Nodal and paranodal accumulations of mitochondria, multivesicular bodies, lamellar bodies and small vesicular and tubular profiles are seen at a proportion of the nodes and are most evident at 24–36 hours. Concomitantly with this, the neurofilaments and neurotubulus fragment, lose their alignment and clump together. The zone of increased density just beneath the nodal axolemma is preserved. Changes in the myelin begin slightly later and consist of vesicular breakdown of the terminal myelin lamellae, and separation of the terminal myelin loops from the axolemma by Schwann cell processes. The latter event appeared to be associated with retraction of the myelin from the node. Schwann cell processes also extend to cover the nodal axon, separating the Schwann cell nodal processes from the axolemma. The final stage is the interruption of the nodal axon and the fusion of the ends of the myelin as part of ovoid formation.
    Type of Medium: Electronic Resource
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