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  • 1
    Electronic Resource
    Electronic Resource
    Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin α2 deficiency in skin biopsy (1997)
    Springer
    Acta neuropathologica 94 (1997), S. 103-108 
    Details
    ISSN: 1432-0533
    Keywords: Key words Congenital muscular dystrophy ; Laminin ; Merosin ; Skin biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We studied the immunohistochemical expression of laminin subunits α2, α1, β1 in muscle and skin biopsy samples from three patients with congenital muscular dystrophy (CMD), and from ten control patients investigated for various neuromuscular disorders. Merosin α2 chain was not detectable in the basement membrane of muscle fibers, or in the nerve endings, cutaneous nerves, and corium in the skin of the CMD patients, whereas it was clearly expressed in the skin biopsy samples from control patients, especially in the nerve endings of the arrector pili muscles. Laminin α1 chain was expressed in the corium, in the muscle fiber membranes of arrector pili muscles and in cutaneous nerve fibers, perineurium and blood vessels in controls and in CMD patients. Laminin β1 chain was faintly expressed in the corium, and a diffuse labeling was detected on arrector pili muscle with enhanced expression at nerve endings, intracutaneous nerves and capillaries, with similar findings in all biopsy specimens. For merosin-negative CMD patients, skin biopsy may provide a diagnostic alternative to muscle biopsy since merosin deficiency can be demonstrated in the skin neural structures, and in particular in the nerve endings of the arrector pili smooth muscles.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050680
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  • 2
    Electronic Resource
    Electronic Resource
    Hypertrophic neuropathy in Sjögren's syndrome (1982)
    Springer
    Acta neuropathologica 57 (1982), S. 309-312 
    Details
    ISSN: 1432-0533
    Keywords: Hypertrophic neuropathy ; Sjögren's syndrome ; Onion bulbs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 56-year-old woman suffering from primary Sjögren's syndrome showed a distal, symmetric, predominantly sensory neuropathy of the lower limbs, with slow nerve conduction velocity and raised CSF protein. Sural nerve biopsy demonstrated severe loss of myelinated fibers with increased collagen, prominent remyelination on teased fibers, and onion bulb formation on electron microscopy. On the basis of the findings of hypertrophic neuropathy (not previously reported in this disease) and of raised CSF protein, the polyneuropathy of Sjögren's syndrome is compared with chronic relapsing polyneuropathy and a possible role of immunologic mechanisms is suggested.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00692189
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  • 3
    Electronic Resource
    Electronic Resource
    Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous (1992)
    Springer
    Acta neuropathologica 83 (1992), S. 196-201 
    Details
    ISSN: 1432-0533
    Keywords: Peroneal muscular atrophy ; Hereditary spastic paraparesis ; Hereditary motor and sensory neuropathy ; Nerve biopsy ; Onion bulbs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Peroneal muscular atrophy (PMA) associated with hereditary spastic paraparesis (HSP) is a nosologically ill-defined disease, which has been classified by Dyck as hereditary motor and sensory neuropathy type V (HMSN V). Nerve biopsy has been rarely reported in this condition. We examined sural nerve biopsies in four patients, demonstrating the following: severe myelinated fiber loss especially of large fibers, with moderate (one case) or prominent (one case) onion bulb formation; selective decrease of large fibers with moderate Schwann cell hyperplasia (one case); normal myelinated fiber population with minimal changes (one case). After reviewing previously reported cases, we conclude that in PMA with HSP sural nerve biopsy may show features either of hypertrophic type of PMA, of neuronal type, or of spinal type; thus, it seems inappropriate to allocate PMA with HSP in a unique subtype of HMSN. In addition, HSP may be not associated with peripheral neuropathy, and thus the classification in the HMSN group may be incongrous. A proper classification of PMA with HSP may be in the “complicated” forms of HSP according to Harding [Lancet I: 1151–1155 (1983)]; however, the nosology of this condition needs to be further elucidated, possibly on the basis of the underlying molecular genetic mechanisms of HSP and PMA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00308479
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  • 4
    Electronic Resource
    Electronic Resource
    Sarcoid neuromyopathy with selective involvement of the intramuscular nerves (1998)
    Springer
    Acta neuropathologica 95 (1998), S. 437-441 
    Details
    ISSN: 1432-0533
    Keywords: Key words Neurosarcoidosis ; Sarcoid myopathy ; Intramuscular nerves ; Immunohistochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 35-year-old man affected with pulmonary sarcoidosis had a 12-year history of fatigue and pain in the limbs, with normal neurological examination, except for diffusely absent deep tendon reflexes. Muscle biopsy samples showed multiple noncaseating granulomas, most prominent around the intramuscular nerves, with predominance of CD4+ cells. Intramuscular nerve bundles surrounded by granulomas were immunolabelled with laminin α1, α2, β1 and γ1 chain, and collagen IV. Sural nerve biopsy samples were normal. This patient showed a unique histopathological pattern of sarcoid neuromyopathy characterized by distribution of granulomas or infiltrating cells around intramuscular nerve fibers. The clinical picture, restricted to nonspecific symptoms of fatigue and myalgia, and loss of deep tendon reflexes, correlated well with the selective localization of sarcoid lesions in contiguity with the intramuscular nerves. To our knowledge, this peculiar clinico-pathological correlation has not been reported previously.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050822
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  • 5
    Electronic Resource
    Electronic Resource
    Congenital myopathy with mosaic fibers and interlacing sarcomeres: a new structural myopathy (1998)
    Springer
    Acta neuropathologica 96 (1998), S. 643-650 
    Details
    ISSN: 1432-0533
    Keywords: Key words Congenital myopathy ; Muscle fibers ; Ultrastructure ; Myofibrillar disarray
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 44-year-old man presenting with dyspnoic attacks was found to be affected with congenital myopathy, rigid spine, restrictive respiratory insufficiency and cardiomyopathy. Muscle biopsy showed type 1 fiber predominance (65.7%) and hypotrophy, and characteristic changes in 43.9% of the type 1 fibers, consisting in alternating pale and dark staining on alkaline ATPase reacted sections in a mosaic pattern. Ultrastructural examination demonstrated bands of myofibrils at right angles or skew to the remaining myofibrils transversing the fibers. Myofibrillar disarray was always associated with loss of the Z-discs and actin filaments, and often with aggregation of mitochondria. The muscle biopsy findings in this patient suggest a new entity of congenital myopathy with clinical features of rigid spine, cardiomyopathy and restrictive respiratory insufficiency, characterized by peculiar abnormalities of ATPase staining in a mosaic pattern and, ultrastructurally, by zones of disorientation of the sarcomeres.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050946
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  • 6
    Electronic Resource
    Electronic Resource
    Anderson-Fabry's disease: Neuropathological and neurochemical investigation (1982)
    Springer
    Acta neuropathologica 56 (1982), S. 93-98 
    Details
    ISSN: 1432-0533
    Keywords: Anderson-Fabry's disease ; Neuropathology ; Neurochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A clinical, neuropathological and neurochemical study of a case of Anderson-Fabry's disease is described. The clinical course mainly consisted of repeated icuts with major involvement of the CNS. The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits on the walls, with reduction or occlusion of the lumen. This is correlated with secondary ischaemic foci scattered throughout the cortex as well as through the white matter. In addition, the cells of the cerebral cortex, thalamus, basal ganglia, amygdala, cerebellar and olivary nuclei show a marked accumulation of lipofuscin. Biochemical examination reveals a threefold increase in galactolipids due to the specific α-galactosidase deficiency. Cholesterol is reduced secondarily to ischaemic myelin damage. Glycosaminoglycans uronic acid is increased in cytosol and membrane-bound fractions which could be related to reactive gliosis. Glycoprotein sugars show a decrease in N-acetyl-neuraminic acid and fucose as well as an increase in hexosamines and hexoses in membrane-bound fraction, while in cytosol fraction all sugars are increased. This suggests that the α-galactosidase deficiency can alter not only the glycolipid but also the glycoprotein metabolism, resulting in a higher presence of hexosamines and hexoses-rich glycoproteins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00690579
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  • 7
    Electronic Resource
    Electronic Resource
    Platelet phenolsulphotransferase activity, monoamine oxidase activity and peripheral-type benzodiazepine binding in demented patients (1996)
    Springer
    Journal of neural transmission 103 (1996), S. 491-501 
    Details
    ISSN: 1435-1463
    Keywords: Dementia of Alzheimer type ; neurodegenerative diseases ; platelet peripheral-type bénzodiazepine binding sites ; platelet monoamine oxidase ; platelet phenolsulphotransferase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Blood platelet phenolsulphotransferase and monoamine oxidase activities, as well as platelet peripheral-type benzodiazepine binding have been studied in several neuropsychiatric disorders, in order to identify biochemical markers for altered brain functioning. In the present work, we determined platelet phenolsulphotransferase and monoamine oxidase activities in demented patients: they showed significantly higher phenolsulphotransferase and monoamine oxidase activities than controls. A significant positive correlation was found between enzyme activities and severity of illness. In the same subjects, we evaluated platelet peripheral-type benzodiazepine binding: a significant reduction of Bmax values was observed in demented patients, whereas Kd values did not substantially differ between the two subject groups. These findings are discussed with reference to central nervous system biochemical abnormalities of demented subjects: it may be that in Dementia of Alzheimer type either some central biochemical changes are reflected in certain peripheral tissues (such as platelets), or a systemic derangement occurs together with a cerebral involvement.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01276422
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  • 8
    Electronic Resource
    Electronic Resource
    Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers (1989)
    Springer
    Journal of neurology 236 (1989), S. 418-420 
    Details
    ISSN: 1432-1459
    Keywords: Debrancher deficiency ; Glycogenosis ; Neuromuscular disease ; Pseudohypertrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A neuromuscular disorder is reported in two brothers, aged 28 and 38 years, with glycogenosis type III. Both patients had proximal weakness, pseudohypertrophy of sternocleidomastoid. trapezius and quadriceps muscles, mild distal wasting and myopathic EMG changes. Pseudohypertrophy was more evident in the younger brother, whereas weakness was prominent in the older one. In the former, muscle biopsy revealed vacuolar myopathy and virtual absence of amylo-1,6-glucosidase enzyme. Few familial cases of debrancher deficiency neuromuscular disorder have been reported. Distal wasting has been considered a quite characteristic manifestation of the disease. It is also suggested that this particular kind of pseudohypertrophy may represent a distinctive feature of glycogenosis type III.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314902
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  • 9
    Electronic Resource
    Electronic Resource
    Tangier disease. A case with sensorimotor distal polyneuropathy and lipid accumulation in striated muscle and vasa nervorum (1985)
    Springer
    Acta neuropathologica 67 (1985), S. 121-127 
    Details
    ISSN: 1432-0533
    Keywords: Tangier disease ; Peripheral neuropathy ; Lipid storage ; Sural nerve
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 65-year-old man with Tangier disease (analphalipoproteinemia) had had a progressive sensorimotor distal neuropathy with sensory ataxia for 1 year. Muscle biopsy demonstrated excess lipid vacuoles on histochemical and electron-microscopic techniques. Sural nerve biopsy showed a marked loss of large fibers and an increase in small myelinated fibers, with presence of remyelinating fibers and clusters of regeneration; a few aspects of active demyelination and some onion-like formations were also present. Lipid accumulation chiefly affected the Schwann cells of unmyelinated fibers and, to a lesser degree, of myelinated fibers, endoneurial fibroblast, and vasa nervorum. Teased fibers showed prevalent aspects of de-/remyelination and, often in association, marked myelin wrinkling suggesting axonal atrophy. This Tangier patient differs from known cases for the presence of a distal symmetrical sensorimotor polyneuropathy (not previously reported in Tangier disease) and because of the morphological findings of de-/remyelination coexisting with aspects of axonal atrophy and previous degeneration, and of lipid accumulation within striated muscle and vasa nervorum. This latter finding contrasts with the assumption that in Tangier disease vessel walls are not a site of lipid storage: probably the vasa nervorum are different, in this respect, from other vessels, because of the intense lipid metabolism of the nervous tissue. Thus we suggest that involvement of vasa nervorum in Tangier disease may be more important than previously suspected, possibly playing a role in the causation of neuropathy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688132
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  • 10
    Electronic Resource
    Electronic Resource
    Neuronal loss in the basal nucleus of meynert in progressive supranuclear palsy (1983)
    Springer
    Acta neuropathologica 61 (1983), S. 157-160 
    Details
    ISSN: 1432-0533
    Keywords: Progressive supranuclear palsy (PSP) ; Subcortical dementia ; Basal nucleus of Meynert ; Neuropathology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A morphometric study of the basal nucleus of Meynert (bnM) has been performed in a 70-year-old man with a 4-year history of pathologically confirmed progressive supranuclear palsy (PSP). An important neuronal loss (52%) was demonstrated in the bnM. This finding has not been previously documented with morphometric methods in PSP, but the involvement of the bnM is well known in other related conditions, i.e., Parkinson's disease. Alzheimer's disease, and Parkinson-dementia complex of Guam. Our findings yield support to the view that the involvement of the bnM, a nucleus with complex connections with various subcortical structures and diffuse cholinergic projections on the neocortex, could play an important role in the physiopathogeny of subcortical dementia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00697397
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