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1.
Shinde A Nakano S Kusaka H Nakaya Y Sawada H Kohara N Shibasaki H 《Acta neuropathologica》2004,107(3):265-271
Reducing body myopathy is a rare muscle disease defined by abnormal inclusions in affected muscle fibers that can be stained with menadione-nitroblue tetrazolium. The origin of these inclusions has not been determined. Here we show that reducing bodies bear characteristics of nucleoli. Ultrastructurally, muscle biopsy specimens of a patient with adult-onset reducing body myopathy showed granular structures of reducing bodies with features similar to the granules of nucleoli, which consisted of pre-ribosomes. In addition, reducing bodies were positive for histochemistry of argyrophilic nucleolar organizer regions (a method for detecting the areas where ribosomal RNA is actively transcribed in the nucleolus), and for antibodies against nucleoli and nuclear ribonucleoprotein. The current findings suggest that reducing bodies contain pre-ribosomes and their associated proteins of the nucleolus and that formation of reducing bodies may result from defects of processing and assembly of ribosomes. 相似文献
2.
A. Saito Yoichi Nakazato Junko Hirato Atsushi Sasaki Hideaki Yokoo Junichi Yamaguchi Tsuneo Shimizu 《Acta neuropathologica》1997,93(4):421-425
Intracytoplasmic inclusion bodies are rarely found in meningiomas. A 74-year-old woman had an anaplastic meningioma with
intracytoplasmic chromophobe inclusion bodies (CIB) histologically. These CIB were various shapes, e.g. round, teardrop-like,
fusiform, horseshoe-like, crescentic and perinuclear. The size of CIB ranged from 7 to 14 μm and the nuclei of the tumor cells
with CIB were often eccentric. Most CIB were immunopositive only for vimentin, staining more intensely than surrounding cytoplasm
in a comparative study using adjacent sections stained with hematoxylin-eosin and vimentin. CIB showed loosely textured filamentous
structures which were in parallel and entangled arrangements ultrastructurally. The diameter of the filaments was 13–14 nm
and they were thicker than normal intermediate filaments. Moreover, these filaments appeared to be studded with granular and
fuzzy substances. These findings suggest that CIB are mainly composed of abnormally synthesized and arranged vimentin filaments.
Received: 1 July 1996 / Revised: 20 September 1996 / Accepted: 27 September 1996 相似文献
3.
C. Rodolico A. Toscano A. Patitucci M. Muglia M. Gaeta G. D’Arrigo A. Migliorato S. Messina A. Quattrone C. Messina G. Vita 《Neurological sciences》2005,26(5):303-309
Abstract The objective was to report a clinical, pathological and muscle magnetic resonance (MR) study of an Italian family with an
autosomal dominant inclusion body myopathy (AD-IBM). Eight subjects (age range 20–56 years; 5 females and 3 males) belonging
to four generations were studied. Onset of disturbances (distal weakness at lower limbs) ranged from 20 to 28 years. CK levels
were increased to five times. Only in an early stage oedema of involved muscles has been demonstrated by muscle MR. Quadriceps
femoris was characteristically spared; in the last phases a mild involvement of the vasti became evident with persistent sparing
of the rectus femori. Rimmed vacuoles and hyperphosphorylated tau filaments were evident at muscle biopsy. Linkage analysis
excluded the association of the disease to chromosome loci 14q11, 17p13.1, 2p13, 19p13. The study suggests that quadriceps
sparing is a characteristic feature also of AD-IBM. This finding could represent a muscle-image hallmark helpful in diagnosis
of autosomal dominant muscular disorders. 相似文献
4.
Frontotemporal dementia with inclusion body myopathy and Paget’s disease of bone (IBMPFD) is a rare, autosomal dominant disorder
caused by mutations in the gene valosin-containing protein (VCP). The CNS pathology is characterized by a novel pattern of ubiquitin pathology distinct from sporadic and familial frontotemporal
lobar degeneration with ubiquitin-positive inclusions without VCP mutations. Yet, the ubiquitin-positive inclusions in IBMPFD
also stain for TAR DNA binding protein, a feature that links this rare disease with the pathology associated with the majority
of sporadic FTD as well as disease resulting from different genetic alterations. VCP, a member of the AAA-ATPase gene family,
associates with a plethora of protein adaptors to perform a variety of cellular processes including Golgi assembly/disassembly
and regulation of the ubiquitin–proteasome system. However, the mechanism whereby mutations in VCP lead to CNS, muscle, and
bone disease is largely unknown. In this report, we review current literature on IBMPFD, focusing on the pathology of the
disease and the biology of VCP with respect to IBMPFD. 相似文献
5.
Summary The cellular expression of estrogen receptor-related small heat-shock protein (HSP27) in meningiomas was investigated immunologically. A cytoplasmic distribution of HSP27 was demonstrated in surgical specimens of 22 of 26 cases with meningiomas and cultured meningioma cells derived from two individuals. By Western blotting, HSP27 was detected in every tissue homogenate of 17 cases studied. Thus, HSP27 appears to be constitutively expressed in most meningiomas. In anaplastic portions of one papillary meningioma, there were numerous granulofilamentous inclusion bodies [Goldman JE et al. (1980) Cancer 46:156–161]. The inclusion bodies were immunopositive for HSP27 despite the negativity of the tumor cytoplasms. Thus, HSP27 seems to participate in the formation of certain inclusion bodies in meningioma cells, like B-crystallin which participates in the formation of Rosenthal fibers in astrocytes.Supported by a Grant-in-Aid for General Scientific Research (No. 04670213) from the Ministry of Education, Science and Culture of Japan (T.I.) 相似文献
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7.
Summary The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms. 相似文献
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9.
We report two adult familial cases of inclusion body myopathy (IBM) with desmin storage in skeletal muscle. Clinically, both
patients presented late-onset, progressive, symmetrical, both proximal and distal muscle weakness. Muscle biopsy findings
were identical in both cases and consisted of marked variability in fiber size, increased number of central nuclei and vacuolation
involving 10% of fibers. Single or multiple vacuoles were located subsarcolemmally or in the center, and were rimmed by basophilic
material. At the ultrastructural level, tubulofilamentous nuclear and cytoplasmic inclusions of 16–21 nm in diameter were
frequently observed. In addition, large subsarcolemmal and central deposits composed of electron-dense granular material were
present in many fibers. Immunocytochemistry revealed staining for desmin, vimentin and ubiquitin within both inclusions and
vacuolated fibers. Possible structural and functional associations between these two types of muscle changes remain unclear.
They may either represent two coexistent disease processes or merely reflect an abnormal form of muscle fiber degradation,
with unidentifiable specificity.
Received: 30 January 1998 / Revised: 15 June 1998 / Accepted: 20 October 1998 相似文献
10.
Karima Mokhtari Toshiki Uchihara Stéphane Clémenceau Michel Baulac Charles Duyckaerts J.-J. Hauw 《Acta neuropathologica》1998,96(1):91-96
A case of meningioangiomatosis not associated with neurofibromatosis 2 in a 24-year-old man is reported. Abundant neurofibrillary
tangles and threads, shown by immunohistochemistry and ultrastructural analysis to be similar to those seen in Alzheimer’s
disease, were found in the residual neuropil. Another lesion consisting of argyrophilic globular inclusion bodies with radial
fibrils was found at the periphery. Single and double immunostaining with a panel of antibodies showed similarities between
these inclusions and Pick bodies.
Received: 18 August 1997 / Revised, accepted: 10 December 1997 相似文献
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12.
We describe the clinical and pathological features of a patient with an acute painless proximal myopathy due to hypokalaemia associated with alcoholism. There was an excellent response to treatment with potassium supplements. The importance of recognition of low potassium states in alcohol-dependent patients with muscular weakness is emphasized. 相似文献
13.
In 11 patients with distal myopathy with rimmed vacuole formation (DMRV), a well-known autosomal recessively inherited disorder, the rimmed vacuole formation appears to be the main pathological change accounting for the progressive muscle fiber degeneration. To gain a better understanding of the pathophysiology of the vacuole formation, we applied Congo red and immunohistochemical stains to muscle biopsies from these patients and the results were compared with those of patients with inclusion body myositis (IBM). The vacuoles in DMRV contained Congophilic amyloid material and deposits immunoreactive for -amyloid protein, both the NH2 and COOH termini of -amyloid protein precursor, ubiquitin, and tau protein. These results were similar to those seen in our present cases of IBM as well as in previously reported cases. Therefore, there may be no pathogenetic differences in the formation of rimmed vacuoles in DMRV and IBM. Nevertheless, the degenerative process involved in rimmed vacuole formation in various diseases may share a common pathogenetic mechanism with that in amyloid-plaque formation in Alzheimer's disease brain as has been proposed previously. 相似文献
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15.
Fidziańska A Rowińska-Marcińska K Hausmanowa-Petrusewicz I 《Acta neuropathologica》2004,107(3):197-203
We reported three cases (two familial and one sporadic) of X-linked Emery-Dreifuss muscular dystrophy (EDMD), genetically documented. Two patients demonstrated a typical inclusion body myositis (IBM)-like morphology. The third patient had only minor changes. Patients had elbow and ankle contractures, progressive wasting of humeroperoneal muscles and cardiac failure (pacemaker implantation in all). There was a mutation within the Xq28 gene and complete absence of emerin in the nuclear membrane. Mononuclear cell infiltrations, rimmed vacuoles, amyloid deposits, as well as cytoplasmic and nuclear tubulofilamentous muscle inclusions were most unusual findings. Coexistence of IBM-like morphology and X-linked recessive EDMD might indicate that pathological features of IBM are nonspecific and may be present in other neuromuscular disorders. 相似文献
16.
D. Figarella-Branger J. F. Pellissier N. Bianco B. Devictor M. Toga 《Acta neuropathologica》1990,79(5):528-536
Summary In ten patients with inclusion body myositis (IBM) five muscular biopsies showed profuse inflammatory exudates and three showed a few scattered inflammatory cells with partial invasion in some muscle fibers. No inflammatory cells were seen in two cases. In all patients, histopathological, histomorphometric and immunocytochemical studies were performed. Immunocytochemistry for the class I and class II major histocompatibility complex gene product (MHC) was performed in all cases and in ten control muscles including: normal muscles [3], dermatomyositis [3], polymyositis [3], scleroderma [1]. In the five cases of IBM with inflammatory exudates, subsets of lymphocytes were analyzed with a panel of monoclonal antibodies against B cells, T4 cells, T8 cells, K and natural killer cells and macrophages. Some muscle fibers expressed class I MHC antigens in the inflammatory cases of IBM. These fibers were near the inflammatory exudates and occasionally showed a partial invasion. No expression of class I MHC was found in normal muscles and in non-inflammatory cases of IBM. The antigen which triggers the mononuclear cells in the inflammatory forms of IBM is probably not the filamentous inclusions in rimmed vacuoles. In other inflammatory myopathies, expression of class I MHC was present on all fibers in polymyositis, only in the perifascicular area in dermatomyositis and in scleroderma. It could be suggested that the term inclusion body muscle disease be applied to cases with rimmed vacuoles and IBM-like filaments without inflammatory cells. 相似文献
17.
M. Castro-Gago I. Novo-Rodríguez E. Pintos Martínez A. Beiras Iglesias J. Eirís Puñal 《Child's nervous system》1996,12(5):262-265
An unusual congenital neuromuscular disease characterized by atypically small type II muscle fibers is reported. The patients were a 9-year-old boy and a 3-year-old boy, both of whom showed motor retardation with proximal muscle wasting and hypotonia. Muscle biopsy revealed hypoplastic type II fibers and normal type I fibers. The observed hypoplasia seems to be a primary alteration. 相似文献
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19.
We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive
asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens
were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids
and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological
features are described and compared with those of other previously reported families with IBM. 相似文献
20.
A case of acute myopathy was observed in the course of treatment of respiratory failure with mechanical ventilation combined with prolonged neuromuscular blockade and administration of corticosteroids. A muscle biopsy revealed degeneration of muscle fibres. Electron microscopy showed loss of thick filaments as well as nemaline rods, vacuoles and cytoplasmic bodies. The mitochondria were increased in number, many harbouring paracrystalline inclusions, which were hitherto unknown in this condition. 相似文献