Abstract:
:Exercise intolerance associated with myalgias, muscle cramps or myoglobinuria may be associated with a dystrophinopathy. A search for abnormal dystrophin expression (using immunohistochemistry, immunoblot and DNA analysis) was carried out in a series of 15 patients. They were selected because they presented exercise intolerance, negative biochemical tests (lipid, glycogen and mitochondrial metabolism) and abnormal immunohistochemistry with at least one anti-dystrophin antibody (anti-Dys 1, rod domain; anti-Dys 2, C terminus; anti-Dys 3, N terminus). Lack of anti-Dys 1 immunoreactivity was seen in three patients and abnormal immunoreactivity with all three anti-dystrophin antibodies in two. Immunoblot confirmed the dystrophinopathy in these five patients only, and multiplex polymerase chain reaction DNA analysis revealed a deletion in the dystrophin gene in two of these patients, affecting the proximal part of the rod domain in one and the distal part of this domain in the other. The clinical, biological and histopathological features of the five patients reported here, together with the previous cases reported in the literature, are described and reveal that exercise intolerance associated with dystrophinopathy displays characteristic clinical, biological and immunohistochemical features and defines a new dystrophinopathy phenotype. The absence of staining in the rod domain provides a secure diagnosis of this syndrome. Dystrophinopathy is one etiology of idiopathic myoglobinuria, requiring genetic counseling.
journal_name
Acta Neuropatholjournal_title
Acta neuropathologicaauthors
Figarella-Branger D,Baeta Machado AM,Putzu GA,Malzac P,Voelckel MA,Pellissier JFdoi
10.1007/s004010050671subject
Has Abstractpub_date
1997-07-01 00:00:00pages
48-53issue
1eissn
0001-6322issn
1432-0533journal_volume
94pub_type
杂志文章abstract::Neuronal intracytoplasmic inclusions were found in the ventrolateral and posterior nuclei of the thalamus of 3-month-old thiamine-deficient mice and quaking mice. An electron-microscopic study revealed that these inclusions were composed of condensation of parallel rectilinear 10-nm filaments with interconnecting cros...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691499
更新日期:1983-01-01 00:00:00
abstract::Using a photochemical method silver was demonstrated in the brains of 1-, 14-, and 45-day-old rats which had been exposed to silver on gestational days 18 and 19. In the brain tissue of new-born rats, silver was found in the lysosomes of neurons and astroglia. Minor changes in the anatomic distribution of silver were ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691995
更新日期:1983-01-01 00:00:00
abstract::Numbers of dystrophic neurites, seen with the electron microscope, in CA1 of the hippocampus of either C3H mice infected with 22C or 79A strains of scrapie, or LM mice infected with strain ME7 were greater than in age-matched control mice. Vacuolation, seen by light microscopy in CA1 of the hippocampus of mice infecte...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688263
更新日期:1987-01-01 00:00:00
abstract::A 40-year-old man suffering from amyotrophic lateral sclerosis with symmetrical degeneration of the thalamus and the substantia nigra is reported. The distribution pattern of the thalamic degeneration in the present case was characteristic in that the Nucleus centralis was the severest affected of the thalamic nuclei...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00691074
更新日期:1978-12-15 00:00:00
abstract::The activities of three enzymes of the hexose monophosphate pathway (HMP) were measured in frozen samples of rat cerebral cortex and ethylnitrosourea-induced tumors of the rat nervous system. Results show that in most tumors, adequate amounts of glucose-6-phosphate dehydrogenase (G6PDH), 6-phosphogluconate dehydrogena...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00690440
更新日期:1978-03-15 00:00:00
abstract::In a previous study the occurrence of nerve fibre degeneration with a distribution as in dying-back neuropathies was described in young rats subjected to severe protein deprivation (Oldfors 1981). In this study the ultrastructural appearance of the degeneration of the nerve fibres at different levels of the longitudin...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688871
更新日期:1982-01-01 00:00:00
abstract::Previous investigators have suggested that proteolysis by calpain, a Ca2+-dependent protease, causes muscle fiber degradation in Duchenne and Becker muscular dystrophies (DMD/BMD). Recent evidence indicates that the nonlysosomal ATP-ubiquitin-dependent proteolytic complex (proteasomes) participates in muscle wasting d...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010000229
更新日期:2000-12-01 00:00:00
abstract::Patients with von Hippel-Lindau disease carry a germline mutation of the Von Hippel-Lindau (VHL) tumor-suppressor gene. We discuss the molecular consequences of loss of VHL gene function and their impact on the nervous system. Dysfunction of the VHL protein causes accumulation and activation of hypoxia inducible facto...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-013-1091-z
更新日期:2013-03-01 00:00:00
abstract::Neuronal accumulation of oligomeric amyloid-beta (Alphabeta) is considered the proximal cause of neuronal demise in Alzheimer disease (AD) patients. Blood-borne macrophages might reduce Abeta stress to neurons by immigration into the brain and phagocytosis of Alphabeta. We tested migration and export across a blood-br...
journal_title:Acta neuropathologica
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doi:10.1007/s00401-008-0481-0
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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 thoracic sympathetic preganglionic outflow is important in the maintenance of postural normotension in man. Normative data on the intermediolateral column (ILC) neuron cell bodies is lacking. Counts and measurements on the right ILC cytons have been performed on the T6, T7 and T8 segments of 12 spinal cords of man...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00688573
更新日期:1977-09-26 00:00:00
abstract::Using both tumor specimen and cultured tumor cells, we have studied the differentiation of a pineocytoma by light and electron microscopy (EM) and immunohistochemical demonstration of glial, neuronal and neuroendocrine markers. Only interstitial cells were labeled with anti-glial fibrillary acidic protein and anti-S10...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050834
更新日期:1998-05-01 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::Human recombinant tumor necrosis factor-alpha (rTNF-alpha) was administered to normal Fischer 344 rats by stereotaxic intracerebral (IC) injection. Animals received a single injection of either 6 x 10(4) U rTNF-alpha or excipient in their right parietal lobe. Others received three consecutive daily injections of eithe...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00304638
更新日期:1992-01-01 00:00:00
abstract::To identify antigenic differences between gliomas and normal brain, we have immunohistochemically studied the expression of lymphocyte adhesion molecules (ICAM-1, ICAM-2, ICAM-3, VCAM-1, E-selectin and CD58), epidermal growth factor receptor (EGFR) and extracellular matrix proteins (collagen IV, fibronectin, laminin, ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050696
更新日期:1997-09-01 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::A quantitative study was performed on spinal cord lesions in seven patients with X-linked recessive spinal and bulbar muscular atrophy. The myelinated fiber density of the lateral corticospinal tracts at the T7 cord level was well preserved for both large and small myelinated fibers. On the other hand, neurons in the ...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050575
更新日期:1997-01-01 00:00:00
abstract::Two types of intranuclear inclusions were described in a brain biopsy from a patient with Creutzfeldt-Jakob disease. The first type of intranculear inclusion was papova virus-like and was observed within 20% of the nuclei of all astrocytes and neurons examined. The particles measured 32 nm in diameter and consisted of...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00687930
更新日期:1975-01-01 00:00:00
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 los...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-013-1122-9
更新日期:2013-07-01 00:00:00
abstract::The finding of novel fibroblastic onion bulb-like structures in peripheral nerves is reported for the first time in avian riboflavin deficiency. Day old broiler meat chickens were fed a riboflavin deficient diet (1.8 mg/kg) and were killed on postnatal days 6, 11, 16, 21 and 31, whereas control chickens were fed a con...
journal_title:Acta neuropathologica
pub_type: 杂志文章
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更新日期:2007-08-01 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
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journal_title:Acta neuropathologica
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更新日期:2005-07-01 00:00:00
abstract::The contribution of leukocyte apoptosis to the resolution of meningeal inflammation in bacterial meningitis was studied in the cerebrospinal fluid (CSF) and in meningeal infiltrates of humans and rabbits by in situ tailing, flow cytometry, agarose gel electrophoresis, and electron microscopy. In humans, the rate of ap...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s004010050921
更新日期:1998-11-01 00:00:00
abstract::With an incidence of approximately 350 in 100,000, stroke is the third leading cause of death and a major cause of disability in industrialized countries. At present, although progress has been made in understanding the molecular pathways that lead to ischemic cell death, the current clinical treatments remain poorly ...
journal_title:Acta neuropathologica
pub_type: 杂志文章,评审
doi:10.1007/s00401-009-0496-1
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/BF00696794
更新日期:1975-10-01 00:00:00
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-011-0940-x
更新日期:2012-07-01 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::Accumulation of the tau protein in fibrillar intracellular aggregates is a defining feature of multiple neurodegenerative diseases collectively referred to as tauopathies. Despite intensive study of tau, there is limited information on the formation and clearance dynamics of tau inclusions. Using rAAV vectors to media...
journal_title:Acta neuropathologica
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更新日期:2021-01-26 00:00:00
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journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-017-1800-0
更新日期:2018-02-01 00:00:00
abstract::Recent studies have documented carbonyl stress involvement in the pathogenesis of sporadic amyotrophic lateral sclerosis (ALS). The aim of the present study was to assess a role for carbonyl stress in motor neuron degeneration associated with superoxide dismutase-1 (SOD1) mutant familial ALS and its transgenic mouse m...
journal_title:Acta neuropathologica
pub_type: 杂志文章
doi:10.1007/s00401-002-0537-5
更新日期:2002-08-01 00:00:00