Abstract：
:Spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular disease caused by expansion of a polyglutamine (polyQ) tract in the androgen receptor (AR). SBMA is triggered by the interaction between polyQ-AR and its natural ligands, testosterone and dihydrotestosterone (DHT). SBMA is characterized by the loss of lower motor neurons and skeletal muscle fasciculations, weakness, and atrophy. To test the hypothesis that the interaction between polyQ-AR and androgens exerts cell-autonomous toxicity in skeletal muscle, we characterized the process of myogenesis and polyQ-AR expression in DHT-treated satellite cells obtained from SBMA patients and age-matched healthy control subjects. Treatment with androgens increased the size and number of myonuclei in myotubes from control subjects, but not from SBMA patients. Myotubes from SBMA patients had a reduced number of nuclei, suggesting impaired myotube fusion and altered contractile structures. The lack of anabolic effects of androgens on myotubes from SBMA patients was not due to defects in myoblast proliferation, differentiation or apoptosis. DHT treatment of myotubes from SBMA patients increased nuclear accumulation of polyQ-AR and decreased the expression of interleukin-4 (IL-4) when compared to myotubes from control subjects. Following DHT treatment, exposure of myotubes from SBMA patients with IL-4 treatment rescued myonuclear number and size to control levels. This supports the hypothesis that androgens alter the fusion process in SBMA myogenesis. In conclusion, these results provide evidence of an androgen-dependent impairment of myogenesis in SBMA that could contribute to disease pathogenesis.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Malena A,Pennuto M,Tezze C,Querin G,D'Ascenzo C,Silani V,Cenacchi G,Scaramozza A,Romito S,Morandi L,Pegoraro E,Russell AP,Sorarù G,Vergani Ldoi
10.1007/s00401-013-1122-9subject
Has Abstractpub_date
2013-07-01 00:00:00pages
109-21issue
1eissn
0001-6322issn
1432-0533journal_volume
126pub_type
杂志文章abstract：:Defective interfering influenza virus particles lessened the yield of infective virus recovered from brain after intracerebral challange of 3-week old mice, but failed to affect the appearance of disease or lethality. In 7-week old mice, the presence of defective interfering influenza virus particles reduced both leth...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00684666
更新日期：1976-03-15 00:00:00
abstract：:Muscle fiber abnormalities are described in three cases of neonatal maple syrup disease. There were important variations in fiber diameters. Lesions consisted in focal or diffuse destruction of myofibrils. In view of recent biochemical and clinical data, a direct relation between elevated branched-chain amino acid lev...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00685251
更新日期：1984-01-01 00:00:00
abstract：:The immunoreactivity to the free radical-related enzymes, nitric oxide synthase (NOS) and superoxide dismutase (SOD), was examined in brain tissue in progressive supranuclear palsy (PSP). To determine the relationship between the immunoexpression of these enzymes and tau-positive, argyrophilic cytoplasmic inclusions, ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050808
更新日期：1998-04-01 00:00:00
abstract：:The occurrence of oligodendrocytes within astrocytes ("emperipolesis") has been described in demyelinating lesions in cases of multiple sclerosis and also in other non-demyelinating disorders. We found that this finding was common in the cerebral white matter of patients with Creutzfeldt-Jakob disease (CJD). Eight con...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-004-0880-9
更新日期：2004-09-01 00:00:00
abstract：:The alterations in oligodendrocytes in myelin basic protein-induced acute experimental autoimmune encephalomyelitis (EAE) in the Lewis rat were studied using the technique of pre-embedding immunolabelling with the Rip monoclonal antibody, which specifically labels the cytoplasm of the cell bodies and processes of olig...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010050763
更新日期：1998-01-01 00:00:00
abstract：:We investigated clinicopathologically pyramidal signs, including hyperreflexia, Babinski sign, and spasticity, and the involvement of the primary motor cortex and pyramidal tract, in eight Japanese autopsy cases of amyotrophic lateral sclerosis (ALS) with dementia. Pyramidal signs were observed in seven (88%) of the e...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-002-0543-7
更新日期：2002-09-01 00:00:00
abstract：:A 79-year-old woman had a 10-year history of dementia, initially presenting as non-fluent aphasia. Magnetic resonance imaging showed frontal atrophy (left greater than right) and hyperintense foci within white matter. Neuropathologically, there was severe frontal atrophy due to cortical neuronal loss with spongy chang...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-003-0719-9
更新日期：2003-08-01 00:00:00
abstract：:An unusual tumor of the pituitary gland is reported. The most characteristic finding of the present tumor was the presence of numerous "colloid" and mucoid secretions. The cells were stellate in shape and there were intra- or intercellular lumina which were lined by many microvilli and occasional cilia. There were als...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687617
更新日期：1984-01-01 00:00:00
abstract：:A case of cerebellar medullomyoblastoma in a young boy was investigated by electron microscopy. The neuroectodermal component shows the characteristics of a desmoplastic medulloblastoma. The mesodermal component consists of more or less differentiated cross-striated muscle cells. Undifferentiated muscle cells are very...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00690521
更新日期：1979-12-01 00:00:00
abstract：:Immunohistochemical techniques were employed to examine the changes in free ubiquitin within the hippocampus 1, 3, 7, 14, and 30 days after a unilateral perforant pathway lesion occurred in the rat brain. Immunoreactivity for ubiquitin was remarkably decreased in the cell body and proximal dendrites of neurons through...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-001-0489-1
更新日期：2002-05-01 00:00:00
abstract：:A newly developed in vitro labeling method with bromodeoxyuridine (BrdU) identifies S phase cells in situ in freshly obtained surgical tissue of human brain tumors which is subsequently fixed and embedded in paraffin for BrdU immunovisualization. For the first time, the BrdU labeling index (LI) is successfully compare...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687579
更新日期：1989-01-01 00:00:00
abstract：:The endothelial cells of three cases of cerebellar capillary hemangioblastoma were studied by means of electron microscopy. Crystalloid bodies, not previously described in the vessels of the central nervous system (CNS), were found in 5%-10% of the endothelial cells, more often in the capillaries with small irregular ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00688686
更新日期：1985-01-01 00:00:00
abstract：:The glial cytoplasmic inclusion (GCI) is a histological hallmark for multiple system atrophy (MSA): these inclusions are found in oligodendrocytes and consist of abnormal granule-coated fibrils of approximately 24- to 40-nm diameter. To clarify the significance of the presence of midkine (MK) in these GCIs, we carried...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010000214
更新日期：2000-11-01 00:00:00
abstract：:The long-term survival of oligodendrocytes in the absence of axons in adult animals was studied following Wallerian degeneration of the optic nerves of adult rats for periods up to 22 months. In contrast to the findings in development and in young animals, large numbers of oligodendrocytes survived during this time pe...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00308922
更新日期：1990-01-01 00:00:00
abstract：:Recent evidence suggests that brain-derived neurotrophic factor (BDNF) and its tyrosine kinase B (TrkB) receptor, in addition to promoting neuronal survival and differentiation, modulates synaptic transmission by increasing N-methyl-D-aspartic acid receptor (NMDAR) activity. Overexpression of BDNF may, then, interfere...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010000296
更新日期：2001-04-01 00:00:00
abstract：:We have developed a functional vegetative model by an 18-min clamping of the ascending aorta combined with a bypass formation between the aorta to right atrium and the aorta to femoral vein. Complete global brain ischemia (CGBI) induced for 18 min with this model provided the following distinct advantages: cardiopulmo...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00294614
更新日期：1990-01-01 00:00:00
abstract：:Newborn rats were exposed to daily intraperitoneal injections of 10 mg lead nitrate per kg body weight for the first 15 postnatal days. The growth and mortality of the lead-exposed animals did not differ from their control litter-mates, injected with vehicle only. In our previous studies, focal hemorrhages and spongy ...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00687071
更新日期：1987-01-01 00:00:00
abstract：:Focal cortical dysplasia (FCD) is a localized malformation of cortical development and is the commonest cause of severe childhood epilepsy in surgical practice. Children with FCD are severely disabled by their epilepsy, presenting with frequent seizures early in life. The commonest form of FCD in children is character...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-013-1135-4
更新日期：2013-08-01 00:00:00
abstract：:Hyper- and hypothyroidism repercussions on soma, nucleus and cytoplasm increases were studied by electron microscopy on 7-, 14-, 21-, and 35-day-old rats. Adult normal animals were compared with adult ones made hypothyroid until they were 35 days old. Also heat value restriction of food intake effects were compared wi...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：
更新日期：1978-09-15 00:00:00
abstract：:Focal cortical dysplasias (FCDs) are increasingly recognized as one of the most common causes of pharmaco-resistant epilepsies. FCDs were recently divided into various clinico-pathological subtypes due to distinct imaging, electrophysiological, and outcome characteristics. In this review, we will overview the internat...
journal_title：Acta neuropathologica
pub_type： 杂志文章,评审
doi：10.1007/s00401-014-1304-0
更新日期：2014-07-01 00:00:00
abstract：:MicroRNA (miRNA) expression was assessed in human cerebral cortical gray matter (GM) and white matter (WM) in order to provide the first insights into the difference between GM and WM miRNA repertoires across a range of Alzheimer's disease (AD) pathology. RNA was isolated separately from GM and WM portions of superior...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-010-0756-0
更新日期：2011-02-01 00:00:00
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journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-003-0686-1
更新日期：2003-06-01 00:00:00
abstract：:The identification of the alpha-synuclein gene on chromosome 4q as a locus for familial Lewy-body parkinsonism and of alpha-synuclein as a component of Lewy bodies has heralded a new era in the study of Parkinson's disease. We have identified a large family with Lewy body parkinsonism linked to a novel locus on chromo...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s004010051177
更新日期：2000-06-01 00:00:00
abstract：:Detailed neuropathologic and immunohistologic analysis of a case of serologically and polymerase chain reaction-confirmed human immunodeficiency virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is reported in a 73-year-old North American black woman. In addition to the usual neuropath...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00304136
更新日期：1993-01-01 00:00:00
abstract：:Emerging evidence has demonstrated the neuroprotection of estrogen in Alzheimer's disease (AD). The hippocampus, an important target of estrogen action, is severely affected in the Alzheimer process. The aim of present study was to detect the distribution of estrogen receptor-alpha (ER-alpha) and the relationship betw...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-003-0720-3
更新日期：2003-09-01 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：:This report describes three brothers belonging to a consanguineous family suffering from a progressive neurological disorder associated with L-2-hydroxyglutaric aciduria. Clinically this disorder is characterized by childhood onset, pyramidal signs, cerebellar and pseudobulbar syndromes and epilepsy. Pathological exam...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00310381
更新日期：1994-01-01 00:00:00
abstract：:Histamine dihydrochloride (10 micrograms of 500 micrograms/ml) was infused during 1 min into the lateral cerebral ventricle of rats, which resulted in a significant stimulation of pinocytosis in the endothelial cells. Systemic injections of mepyramine or metiamide could not prevent this activation. In contrast, raniti...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00686387
更新日期：1988-01-01 00:00:00
abstract：:Macroautophagy is a dynamic process whereby cytoplasmic components are initially sequestered within autophagosomes. Recent studies have shown that the autophagosome membrane can selectively recognize ubiquitinated proteins and organelles through interaction with adapter proteins such as p62 and NBR1. Both proteins are...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/s00401-012-0975-7
更新日期：2012-08-01 00:00:00
abstract：:A complex neuropathological study of two cases of Niemann-Pick disease (NPD) type C (NPDC) revealed some novel features in the chemical pathology of the neuronal storage. Lipid histochemistry showed the presence of a lipid which met the criteria of a neuronal glycosphingolipid. Sphingomyelin (SM) was not detected in t...
journal_title：Acta neuropathologica
pub_type： 杂志文章
doi：10.1007/BF00690966
更新日期：1985-01-01 00:00:00
