Abstract:
:Charcot-Marie-Tooth disease type 1A (CMT1A) is a common hereditary demyelinating neuropathy caused by a duplication of the gene for the myelin protein PMP22, resulting in overexpression of PMP22 in young patients. Although genetically well defined, the pathogenesis of the hereditary demyelinating neuropathy CMT1A is still unclear. Homology of PMP22 cDNA to the growth arrest-specific gene gas3 and experiments in vitro showing decreased proliferation in PMP22-overexpressing Schwann cells suggest a role of PMP22 in Schwann cell differentiation. Furthermore, overexpression of PMP22 in fibroblasts induces programmed cell death. In this report we applied morphometrical methods using electron micrographs and immunohistochemistry to further characterise Schwann cells in CMT1A nerve biopsy samples from CMT1A patients. We show that the total number of PMP22-expressing Schwann cells, i.e. Schwann cells that are in a 1:1 relationship with axons, was not reduced in sural nerve biopsy samples from six young CMT1A patients. We excluded non-specific secondary Schwann cell proliferation. Thus, in young CMT1A patients with increased PMP22 overexpression there seems to be no evidence for altered initial Schwann cell proliferation in achieving a 1:1 relationship to axons prior to the process of de- and remyelination. Further, using electron microscopy we found no evidence for apoptosis of Schwann cells in CMT1A. However, we provide additional support for an abnormal Schwann cell phenotype in CMT1A by showing the expression of neural cell adhesion molecule immunoreactivity in onion bulbs. Thus, the role of PMP22 in cell growth and differentiation does not lead to an altered number of myelinating Schwann cells but to altered Schwann cell differentiation in CMT1A.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Hanemann CO,Gabreëls-Festen AA,Stoll G,Müller HWdoi
10.1007/s004010050712subject
Has Abstractpub_date
1997-10-01 00:00:00pages
310-5issue
4eissn
0001-6322issn
1432-0533journal_volume
94pub_type
杂志文章abstract::Abuse of the club drugs Methamphetamine (Meth) and Ecstasy (MDMA) is an international problem. The seriousness of this problem is the result of what appears to be programmed cell death (PCD) occurring within the brain following their use. This follow up study focused on determining which cell types, neurons and/or gli...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-007-0259-9
更新日期:2007-09-01 00:00:00
abstract::A 77-year-old man suffered intermittent hemiconvulsions of unknown etiology on the left side for a period of about 5 weeks. At the autopsy, there was marked neuronal loss, severe proliferation of astrocytes and spongiform changes in the right cerebral cortex. The cerebral white matter showed loosening with astroglial ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687782
更新日期:1988-01-01 00:00:00
abstract::A retrospective study of 450 consecutive AIDS autopsy cases (397 males, 53 females; mean age at death 38.4 years) in Vienna, Austria, between 1984 and 1999 compares the central nervous system (CNS) findings in three cohorts: 1984-1992 (190 cases), 1993-1995 (162 cases) and 1996-1999 (98 cases, after introduction of tr...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000245
更新日期:2000-08-01 00:00:00
abstract::Immunohistochemical analysis of inflammatory cell density and infiltrate subpopulations in 42 meningiomas was performed. Evaluation of infiltrating cell density was carried out by cell counting. Meningothelial and fibroblastic meningiomas contained an average of 3% mononuclear cells; the few lymphocytes were localized...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00294381
更新日期:1989-01-01 00:00:00
abstract::Involvement of the choroid plexus by lymphoma (Hodgkin) is a hitherto undescribed complication. We report herein the case of a 49-year-old man who developed, shortly before death, neurologic symptoms seemingly related to extensive involvement of choroid plexus and surrounding ventricular structures by lymphoma (Hodgki...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00692063
更新日期:1977-02-28 00:00:00
abstract::MicroRNAs are recognized as important regulators of many facets of physiological brain function while also being implicated in the pathogenesis of several neurological disorders. Dysregulation of miR155 is widely reported across a variety of neurodegenerative conditions, including Alzheimer's disease (AD), Parkinson's...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-020-02185-z
更新日期:2020-09-01 00:00:00
abstract::Isocitrate dehydrogenase 1 (IDH1) mutations are frequent in astrocytomas, oligoastrocytomas and oligodendrogliomas. We previously reported the generation of a mutation-specific antibody that specifically detects R132H mutated IDH1 protein (clone H09). Here, we investigate the feasibility of H09 immunohistochemistry to...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-010-0770-2
更新日期:2011-02-01 00:00:00
abstract::Motor neuron disease (MND) may be complicated by frontotemporal dementia and/or an extrapyramidal movement disorder. Several studies have identified the pathological substrate for dementia in MND as being ubiquitin-immunoreactive inclusions and dystrophic neurites in the extramotor neocortex and hippocampus. Although ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-003-0814-y
更新日期:2004-04-01 00:00:00
abstract::Rats were given daily injections of 0.2 or 0.5 g/kg chlorophenoxyisobutyrate (clofibrate) for 9 to 46 days. Lower leg muscles were studied with light and electron microscopy. Daily treatment with 0.5 g/kg of the drug for 26--46 days caused myopathic changes. ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00703319
更新日期:1977-08-16 00:00:00
abstract::Synucleinopathies, such as Parkinson's disease (PD), multiple system atrophy (MSA), and dementia with Lewy bodies (DLB), are defined by the presence of α-synuclein (αSYN) aggregates throughout the nervous system but diverge from one another with regard to their clinical and pathological phenotype. The recent generatio...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-020-02157-3
更新日期:2020-06-01 00:00:00
abstract::Psammoma bodies in meningocytic whorls were investigated by electron microscopy. In some whorls, connective tissue fibers were seen and membrane-bound vesicles were contiguous to degenerated cells. Some small vesicles, 0.1 to 0.5 micron in diameter, were outlined by plasma membrane (matrix vesicles), other larger ones...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00686081
更新日期:1986-01-01 00:00:00
abstract::Intracranial germ cell tumors (iGCTs) are the second most common brain tumors among children under 14 in Japan. The World Health Organization classification recognizes several subtypes of iGCTs, which are conventionally subclassified into pure germinoma or non-germinomatous GCTs. Recent exhaustive genomic studies show...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-017-1673-2
更新日期:2017-03-01 00:00:00
abstract::Alpha-synuclein is known to play an important role in several neurodegenerative diseases. Moreover, it is expressed in central nervous system neuronal tumors, and another member of the synuclein family, gamma-synuclein, is overexpressed in breast and ovarian carcinomas. However, the expression of alpha-synuclein has n...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010100443
更新日期:2002-02-01 00:00:00
abstract::Following maternal chicken pox in the 14th week of pregnancy, a male infant was born with low birth weight, muscle wasting and limb contractures, hypotonia and areflexia. A rising titre of varicella-zoster-specific IgM (by enzyme-linked immunoabsorbent assay) confirmed congenital infection, and electromyogram showed w...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687781
更新日期:1988-01-01 00:00:00
abstract::Head and neck paragangliomas, rare neoplasms of the paraganglia composed of nests of neurosecretory and glial cells embedded in vascular stroma, provide a remarkable example of organoid tumor architecture. To identify genes and pathways commonly deregulated in head and neck paraganglioma, we integrated high-density ge...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-013-1165-y
更新日期:2013-10-01 00:00:00
abstract::Presence and distribution of S-100 protein (S-100), neuron-specific enolase (NSE), cytokeratin polypeptides, glial fibrillary acidic protein (GFAP), vimentin, actin, lysozyme and pituitary hormones (prolactin, hGH, ACTH, beta-FSH, beta-LH, beta-TSH, alpha subunit) in folliculo-stellate cells (FSC) were studied in seve...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00689825
更新日期:1984-01-01 00:00:00
abstract::Cerebral β-amyloidosis can be exogenously induced by the intracerebral injection of brain extracts containing aggregated β-amyloid (Aβ) into young, pre-depositing Aβ precursor protein- (APP) transgenic mice. Previous work has shown that the induction involves a prion-like seeding mechanism in which the seeding agent i...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-014-1339-2
更新日期:2014-10-01 00:00:00
abstract::We present a case of progressive supranuclear palsy (PSP) with palatal myoclonus occurred in a 64-year-old man. The nucleus olivaris of the medulla oblongata showed high signal intensity on T2-weighted MR images, indicating brainstem tegmental atrophy, which were confirmed as hypertrophy of the nucleus inferior olivar...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050706
更新日期:1997-09-01 00:00:00
abstract::Experimental allergic neuritis was induced in Lewis rats by inoculation with autoreactive T cell lines sensitized to residue 57-81 of P2 myelin protein. Control rats received cells derived from immunization to complete Freund's adjuvant alone. Endoneurial fluid pressure (EFP) was measured in both sciatic nerves at 0, ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00296547
更新日期:1991-01-01 00:00:00
abstract::Endoneurial cell response and type of nerve fibre damage were studied after perineural injections of 7% phenol-aqua and pure glycerol. Our previous studies have shown that phenol and glycerol induce different types of nerve fibre degeneration after intraneural injections: phenol dissolves axons and Schwann cells insid...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-004-0896-1
更新日期:2004-10-01 00:00:00
abstract::Amyloid-beta (Abeta) deposition in cerebral blood vessel walls is one of the key features of Alzheimer's disease (AD). Abeta(1-40) carrying the "Dutch" mutation (DAbeta(1-40)) induces rapid degeneration of cultured human brain pericytes (HBP). To study the mechanisms of this Abeta-induced toxicity, a comparative cDNA ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0585-x
更新日期:2002-11-01 00:00:00
abstract::In Alzheimer's disease (AD) and other tauopathies, the cytosolic protein Tau misfolds and forms intracellular aggregates which accumulate within the brain leading to neurodegeneration. Clinical progression is tightly linked to the progressive spread of Tau pathology throughout the brain, and several lines of evidence ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-018-1911-2
更新日期:2018-11-01 00:00:00
abstract::We present the neuropathological findings in a female patient with clinically definite multiple sclerosis (MS), who at autopsy had multifocal amyloid deposits in the white matter of the brain without other signs of amyloidosis. The patient had relapsing/remitting MS between the ages of 26 and 45, and during her last 1...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s004010050604
更新日期:1997-02-01 00:00:00
abstract::In order to elucidate the immunohistochemical features of hydrocephalic ependyma, immunohistochemical examination was undertaken in 11 normal, postmortem brains (age range, 11 weeks' postconception to 6 months after birth) and 12 hydrocephalic brains (three cases each of congenital aqueductal stenosis, Dandy-Walker ma...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050493
更新日期:1996-07-01 00:00:00
abstract::In addition to motor neurone degeneration, up to 50% of amyotrophic lateral sclerosis (ALS) patients present with cognitive decline. Understanding the neurobiological changes underlying these cognitive deficits is critical, as cognitively impaired patients exhibit a shorter survival time from symptom onset. Given the ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-017-1797-4
更新日期:2018-02-01 00:00:00
abstract::Alzheimer's disease (AD) is a major cause of dementia. Characteristic neuropathological features of AD include neurofibrillary tangles, senile plaques, amyloid angiopathy and microvascular atrophy. The ultra-structure of the microvascular atrophy in AD and its pathogenetic significance have not been defined. This repo...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050386
更新日期:1996-01-01 00:00:00
abstract::The regional distribution of the postsynaptic microtubule-associated protein 2 (MAP2) and the presynaptic marker protein synaptophysin was investigated by immunohistochemistry in brains of rats submitted to 30-min forebrain ischemia by four-vessel occlusion. The following brain temperature profiles during ischemia wer...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00230493
更新日期:1993-01-01 00:00:00
abstract::The cerebrovascular lesions of severe chronic hypertension were studied by light microscopy in perfusion-fixed, subserially sectioned brains from stroke-prone spontaneously hypertensive rats (SHRSP). The leakage and spread of plasma proteins were visualized by immunohistochemical detection of extravasated fibrinogen a...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690831
更新日期:1985-01-01 00:00:00
abstract::Neurofibromas represent one of the hallmarks of neurofibromatosis 1 (NF1) patients. Tumor progression of neurofibromas to malignant peripheral nerve sheath tumors (MPNST) is a frequent and life threatening complication. To learn more about processes involved in malignant transformation, we evaluated differential gene ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-003-0797-8
更新日期:2004-02-01 00:00:00
abstract::Cerebral capillaries in "overgrown" neural tissue of chick embryo brains ranging in age from 5-18 days of incubation were studied by means of electron microscopy. The vessels in the abnormal tissue showed more extensive and prolonged interdigitations and overlapping of adjacent endothelial cells than did those in norm...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00684800
更新日期:1979-04-12 00:00:00