Abstract:
:We measured the intrinsic mechanical properties and protein content of single skinned muscle fibers obtained from patients who had Duchenne muscular dystrophy. To check for possible nonspecific changes caused by muscle disease per se, we also studied the properties of muscle fibers obtained from patients exhibiting severe muscle weakness due to polymyositis. Relative to control fibers obtained from 4 patients with normal or nonmyopathic muscle, we found no significant changes in the ability of muscle fibers from the patients with Duchenne muscular dystrophy or polymyositis to generate active tension in response to calcium or resting tension in response to stretch. In addition, we found no significant changes in the concentrations of the major contractile proteins myosin and actin, of the elastic protein titin, or of the structural proteins nebulin and alpha-actinin. In contrast, immunocytochemical studies showed that dystrophin was absent in the biopsy specimens from the patients with Duchenne muscular dystrophy, but localized at the cell membrane in all of the other muscle biopsy specimens used in this study. These results indicate that myofibrils assemble and function normally in Duchenne muscular dystrophy. Therefore, the absence of dystrophin, which is the primary biochemical defect in this disease, leads to clinical weakness by causing the breakdown of muscle fibers that were once capable of generating normal force, while the surviving fibers exhibit normal contractility.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Horowits R,Dalakas MC,Podolsky RJdoi
10.1002/ana.410270609subject
Has Abstractpub_date
1990-06-01 00:00:00pages
636-41issue
6eissn
0364-5134issn
1531-8249journal_volume
27pub_type
杂志文章abstract:OBJECTIVE:The dose-response effects of dysferlin transgenesis were analyzed to determine if the dysferlin-deficient myopathies are good candidates for gene replacement therapy. METHODS:We have generated 3 lines of transgenic mice, expressing low, mid, and high levels of full-length human dysferlin from a muscle-specif...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21926
更新日期:2010-03-01 00:00:00
abstract::Early differential diagnosis of motor neuropathies (MN) and lower motor neuron diseases (LMND) is important, as prognosis and therapeutic approaches are different. We evaluated the diagnostic contribution of the biopsy of the motor branch of the obturator nerve and gracilis muscle in 21 consecutive patients in which, ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22110
更新日期:2011-01-01 00:00:00
abstract::As more small peptidergic components of the central nervous system are isolated, their role in disease states is being investigated. Several of these neuropeptides, especially the opioidlike peptides, adrenocorticotropic hormone, and some hypothalamic releasing factors, have been found to alter neuronal excitability. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160707
更新日期:1984-01-01 00:00:00
abstract::WAIS performance was compared in 35 pairs of left- and right-handed subjects who had been individually matched for lateralization, cause of brain damage, age, education, and gender. WAIS results were similar in the two groups as well as in two subgroups of subjects with unilateral brain damage. No differences between ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020514
更新日期:1977-11-01 00:00:00
abstract::Seven patients with postfacial palsy contracture and mass contractions were investigated electrophysiologically. In 3 patients the early blink reflex showed an unusually high amplitude, which can be attributed to enhanced excitability of facial motor neurons. In 5 patients the early blink reflex had acquired a crossed...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020114
更新日期:1977-07-01 00:00:00
abstract:OBJECTIVE:Predicting hemorrhagic transformation (HT) is critical in the setting of recanalization therapy for acute stroke. Dedicated magnetic resonance imaging (MRI) sequences for detection of increased blood-brain barrier (BBB) permeability recently have been developed. We evaluated the ability of a novel MRI permeab...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21174
更新日期:2007-08-01 00:00:00
abstract::We performed a population-based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04-2.14), and the number of individuals who either had SCA6 or are at risk of developing SC...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20110
更新日期:2004-05-01 00:00:00
abstract::We studied neuronal activity and its relation to the accumulation of neurofibrillary tangles in Alzheimer's disease (AD) neurons by in situ hybridization to cytochrome oxidase subunit III messenger RNA, a marker of mitochondrial energy metabolism. In AD midtemporal cortex, levels of cytochrome oxidase subunit III mess...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400310
更新日期:1996-09-01 00:00:00
abstract::Unilateral lesions of the occipital visual areas performed on postnatal day 5 (P5) in the ferret are not compensated by the appearance, in the lesioned hemisphere, of visual responses at ectopic locations. Instead, when parts of the visual areas are spared, they show abnormal retinotopic organizations; furthermore, ca...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10591
更新日期:2003-07-01 00:00:00
abstract::Postmortem frontal, temporal, and occipital regions of the brain from adult patients who had a diagnosis of Tourette's syndrome were analyzed for neurochemical alterations. In 3 of 4 TS-affected brains, the concentration of adenosine 3',5'-monophosphate (cyclic AMP) was reduced in all brain regions evaluated. This dim...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410270415
更新日期:1990-04-01 00:00:00
abstract::Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 J...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420609
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:The objective of this study was to evaluate patients with ganglionic acetylcholine receptor antibody (gAChR-Ab) positive autoimmune autonomic ganglionopathy using a multimodal testing protocol to characterize their full clinical phenotype and explore biomarkers to quantify immunotherapy response. METHODS:We ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.26018
更新日期:2021-01-13 00:00:00
abstract::A 9-year-old, blind boy with severe mental retardation with a chronic sleep/wake disturbance had a circadian rhythm of 24.75 hours and an internal desynchronization of the endogenous rhythms. Treatment with oral melatonin given at 6 PM induced a regular sleep/wake pattern. Melatonin, in this patient, convincingly entr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290318
更新日期:1991-03-01 00:00:00
abstract::We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240612
更新日期:1988-12-01 00:00:00
abstract::We prepared RNA probes from cloned segments of human and murine enteroviruses (EVs) for in situ hybridization of skeletal muscle biopsies from patients with dermatomyositis (DM), polymyositis, other inflammatory myopathies, and noninflammatory muscle diseases, and from normal control subjects. A probe derived from The...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260204
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVE:Somnambulism affects up to 4% of adults and constitutes one of the leading causes of sleep-related violence and self-injury. Diagnosing somnambulism with objective instruments is often difficult because episodes rarely occur in the laboratory. Because sleep deprivation can precipitate sleepwalking, we aimed t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21339
更新日期:2008-04-01 00:00:00
abstract::It has been known for some time that patients with Parkinson's disease (PD) have difficulty executing simultaneous motor acts, yet the pathophysiology underlying this impairment remains uncertain. We examined the possibility that these dual-task deficits stem from defective sensorimotor mechanisms producing interferen...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310110
更新日期:1992-01-01 00:00:00
abstract::A recent observation has shown that a common polymorphism in the alpha1-antichymotrypsin (ACT) gene modifies the apolipoprotein E (ApoE) epsilon4-associated Alzheimer's disease (AD) risk identifying the combination of the ACT/AA and ApoE epsilon4/epsilon4 genotypes as a potential susceptibility marker for AD. We analy...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400420
更新日期:1996-10-01 00:00:00
abstract::Disorders of neuronal migration in cerebral cortex are associated with neurological impairments, including mental retardation and epilepsy. Their causes and pathophysiology remain largely unknown, however. In patients with Zellweger disease, a lethal panperoxisomal disorder, and in mice lacking the Pxr1 import recepto...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract::Human T-lymphotropic virus type I (HTLV-I) has been associated with adult T-cell leukemia/lymphoma (ATL), a malignancy of mature CD4-positive lymphocytes, and with tropical spastic paraparesis (TSP), a demyelinating neurological syndrome. This article describes the clinical and pathological features of ATL and reviews...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410230739
更新日期:1988-01-01 00:00:00
abstract:OBJECTIVE:Pituitary dysfunction is a recognized consequence of traumatic brain injury (TBI) that causes cognitive, psychological, and metabolic impairment. Hormone replacement offers a therapeutic opportunity. Blast TBI (bTBI) from improvised explosive devices is commonly seen in soldiers returning from recent conflict...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23958
更新日期:2013-10-01 00:00:00
abstract::beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseas...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400617
更新日期:1996-12-01 00:00:00
abstract::The mechanism by which iron enters the central nervous system from the blood is not well understood. Iron in blood plasma is totally bound to transferrin (Tf), a major plasma glycoprotein. Tf receptors are present on the blood-brain barrier (BBB) endothelium. It is not known whether iron separates from Tf during its p...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320709
更新日期:1992-01-01 00:00:00
abstract::Genomic triplication of the alpha-synuclein gene recently has been associated with familial Parkinson's disease in the Spellman-Muenter kindred. Here, we present an independent family, of Swedish-American descent, with hereditary early-onset parkinsonism with dementia due to alpha-synuclein triplication. Brain tissue ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10846
更新日期:2004-02-01 00:00:00
abstract::In a double-blind crossover study in which patients received placebo or active drug for varying periods, we evaluated the ability of guanidine hydrochloride (20 to 35 mg/kg per day perorally) to improve the rate of recovery in patients with moderate or severe botulism, type A, intoxication. Among 14 patients who recei...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410060117
更新日期:1979-07-01 00:00:00
abstract::Brainstem auditory evoked responses (BAERs) were recorded from 202 patients with definite, probable, or possible multiple sclerosis (MS). Definitions of abnormality were based only on interwave separations and the wave I/wave V amplitude ratio. Thirty-two percent of the patients had abnormal BAERs, and the presence of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070208
更新日期:1980-02-01 00:00:00
abstract::A young man presented with apparent transient ischemic attacks following a motorcycle accident in which he sustained minor injuries only. Computerized axial tomography demonstrated a small right frontal infarct, and angiography revealed an aneurysm of the right internal carotid artery in its extracranial course. This ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410040118
更新日期:1978-07-01 00:00:00
abstract::Between 36 and 44 weeks after conception, telencephalic white matter in the newborn appears to be particularly vulnerable to insults that result in morphological disturbances. Available evidence indicates that this disorder (or group of disorders), named acquired perinatal leukoencephalopathy, reflects a decrease in b...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160102
更新日期:1984-07-01 00:00:00
abstract::Stereotaxic injection of kainic acid into rat striatum produces neuronal degeneration and neurochemical alterations resembling Huntington's disease (HD). Since correction of the deficiency in gamma-aminobutyric acid (GABA) in HD may be of therapeutic value, the efficacy of drugs that inhibit the GABA-degrading enzyme ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020407
更新日期:1977-10-01 00:00:00
abstract::Patients are understandably anxious if seizures occur immediately after temporal lobectomy. Such "neighborhood" seizures are commonly regarded as irrelevant to seizure outcome and discounted in outcome measurement. We conducted an in-depth examination of early postoperative seizures (<28 days) and outcome. The risk of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20372
更新日期:2005-02-01 00:00:00