Abstract:
OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid and biceps muscles, snap-frozen at resting length, were cryosectioned, indirectly immunolabeled with fluorescent antibodies to sarcolemmal and myofibrillar markers, and examined with confocal microscopy to localize the immunolabeled proteins. Glutaraldehyde-fixed samples were stained with heavy metals, embedded, thin-sectioned, and examined with electron microscopy to determine the relationship between the sarcolemma and the underlying myofibrils. RESULTS:Confocal microscopy showed that some of the structures at the sarcolemma in FSHD samples were misaligned with respect to the underlying contractile apparatus. Electron microscopy showed a significant increase in the distance between the sarcolemma and the nearest myofibrils, from less than 100 nm in controls to values as high as 550 nm in FSHD. INTERPRETATION:Our results show that the pathophysiology of FSHD includes novel changes in the organization of the sarcolemma and its association with nearby contractile structures and suggest that, as in other muscular dystrophies, the integrity of the sarcolemma may be compromised in FSHD.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Reed P,Porter NC,Strong J,Pumplin DW,Corse AM,Luther PW,Flanigan KM,Bloch RJdoi
10.1002/ana.20750keywords:
subject
Has Abstractpub_date
2006-02-01 00:00:00pages
289-97issue
2eissn
0364-5134issn
1531-8249journal_volume
59pub_type
杂志文章abstract::D2 dopamine receptor densities were measured in postmortem samples of the caudate nucleus and putamen from 36 parkinsonian patients. The relationship between the age of the patient, duration of the disease, and duration of L-dopa therapy versus density of brain D2 dopamine receptors was examined using [3H]spiperone. R...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190510
更新日期:1986-05-01 00:00:00
abstract::A patient with recessive generalized congenital myotonia and severe, disabling weakness underwent various forms of treatment while being monitored electrophysiologically. Phenytoin, verapamil, and acetazolamide were ineffective, but tocainide yielded good results. Improvement was dose-dependent, and was limited by irr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190515
更新日期:1986-05-01 00:00:00
abstract::Human T-cell lymphotropic virus type III (HTLV-III) has been isolated from neural tissues and cerebrospinal fluid (CSF) of patients with neurological syndromes associated with the acquired immune deficiency syndrome (AIDS) and the virus may be directly involved in the pathogenesis of the syndromes. To detect HTLV-III ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200304
更新日期:1986-09-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy and safety of BHT-3009 in relapsing-remitting multiple sclerosis (MS) and to confirm that BHT-3009 causes immune tolerance. METHODS:BHT-3009 is a tolerizing DNA vaccine for MS, encoding full-length human myelin basic protein. Relapsing-remitting MS patients were randomized 1:1:1 into...
journal_title:Annals of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1002/ana.21370
更新日期:2008-05-01 00:00:00
abstract::The duration of the antiparkinsonian action of levodopa was studied in 48 patients with various response patterns to the oral administration of the dopamine precursor. Deterioration in motor scores after abrupt cessation of a steady-state intravenous levodopa infusion occurred at two successive rates: an initial rapid...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240303
更新日期:1988-09-01 00:00:00
abstract::Thirty patients in whom the initial diagnosis of multiple sclerosis was clinically entertained underwent cranial magnetic resonance imaging (MRI) in close temporal relationship to cranial x-ray computed tomography (CT), electrodiagnostic studies (visual evoked responses, brainstem auditory evoked responses, and somato...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170509
更新日期:1985-05-01 00:00:00
abstract:OBJECTIVE:To investigate whether soluble growth stimulation expressed gene 2 (sST2), a prognostic marker in cardiovascular and inflammatory disorders, is associated with neurological injury after aneurysmal subarachnoid hemorrhage (SAH). METHODS:We studied SAH patients from 2 independent cohorts. Outcome assessments i...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25545
更新日期:2019-09-01 00:00:00
abstract:OBJECTIVE:To clarify the histopathological alterations of microglia in the brains of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS) caused by mutations of the gene encoding the colony stimulating factor-1 receptor (CSF-1R). METHODS:We examined 5 autopsied brains and 1 biopsy specimen from a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24754
更新日期:2016-10-01 00:00:00
abstract::We describe a kindred with 7 confirmed and 2 probable cases of subacute dementia accompanied by myoclonus. The inheritance pattern is consistent with autosomal dominance and shows anticipation. The pathological changes involve marked gliosis with neuronal loss of the dorsomedial and midline thalamic nuclei, with lesse...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200209
更新日期:1986-08-01 00:00:00
abstract::We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but diffe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380412
更新日期:1995-10-01 00:00:00
abstract::The monoclonal antibodies anti-Leu-19 and anti-NKH-1 recognize the CD56 differentiation antigen expressed on natural killer (NK) cells and on a T-cell subset. Because CD56 is an isoform of neural cell adhesion molecule (N-CAM), we examined its expression on human muscle using antibodies to Leu-19, NKH-1, and purified ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310109
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVE:Traumatic brain injury (TBI) often results in traumatic axonal injury (TAI). This can be difficult to identify using conventional imaging. Diffusion tensor imaging (DTI) offers a method of assessing axonal damage in vivo, but has previously mainly been used to investigate groups of patients. Machine learning ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23824
更新日期:2013-04-01 00:00:00
abstract:OBJECTIVE:Loss of function mutations in PINK1 typically lead to early onset Parkinson disease (PD). Zebrafish (Danio rerio) are emerging as a powerful new vertebrate model to study neurodegenerative diseases. We used a pink1 mutant (pink(-/-) ) zebrafish line with a premature stop mutation (Y431*) in the PINK1 kinase d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23999
更新日期:2013-12-01 00:00:00
abstract::To elucidate immunopathogenetic roles of aquaporin-4 antibodies in the cerebrospinal fluid (CSF) of neuromyelitis optica spectrum disorders (NMOSD), we analyzed aquaporin-4 antibody titers, cellular and inflammatory markers in the CSF collected from 11 aquaporin-4 antibody seropositive patients. The CSF aquaporin-4 an...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24208
更新日期:2014-08-01 00:00:00
abstract::One hundred fifty autopsy brains from patients with clinically diagnosed Alzheimer's disease (AD) were examined pathologically. The brains were received consecutively over a 3-year period from numerous sources as part of a research program in which one brain half was frozen for biochemical studies and the other half w...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240110
更新日期:1988-07-01 00:00:00
abstract:OBJECTIVE:Brain-computer interfaces (BCIs) could potentially be used to interact with pathological brain signals to intervene and ameliorate their effects in disease states. Here, we provide proof-of-principle of this approach by using a BCI to interpret pathological brain activity in patients with advanced Parkinson d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23951
更新日期:2013-09-01 00:00:00
abstract::Central motor conduction times for the adductor pollicis muscle, the twitch force of that muscle to scalp magnetic motor cortex stimulation, and the maximum force of phasic voluntary contraction of the same muscle were measured in 15 patients with multiple sclerosis. Two tests of manual dexterity of the same hand also...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290104
更新日期:1991-01-01 00:00:00
abstract::We studied local cerebral blood flow, as measured by autoradiography with digital image processing and by tissue morphology, in six rats 4 hours after occlusion of the proximal middle cerebral artery. A consistent, three-dimensional pattern of graded reductions in local cerebral blood flow involved the affected hemisp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150608
更新日期:1984-06-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20548
更新日期:2005-08-01 00:00:00
abstract::To examine the antiparkinsonian effects of blocking glycineB receptors, we designed a pilot study testing the potent and selective antagonist, PAMQX, in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated primates. PAMQX had no intrinsic effects but markedly potentiated the antiparkinsonian action of levodopa. In a d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20279
更新日期:2004-11-01 00:00:00
abstract::We report the use of a new stable isotope-labeled form of levodopa (LD) to examine in vivo central LD metabolism in Parkinson's disease (PD). Eight patients representing a wide spectrum of disease severity were administered 50 mg of carbidopa orally followed in 1 hour by an intravenous bolus of 150 mg of stable isotop...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420305
更新日期:1997-09-01 00:00:00
abstract::Axonal transport was studied in sciatic motor neurons of rats with neuropathy induced by p-bromophenylacetylurea (BPAU) in dimethylsulfoxide solution. Control rats were treated with the vehicle alone. To label rapidly transported proteins, the rats received an injection of 35S-methionine into the ventral horn of the s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190506
更新日期:1986-05-01 00:00:00
abstract::Interferon beta-1b reduces clinical exacerbations and disease activity in multiple sclerosis as shown by magnetic resonance imaging, but the mechanism of action is unknown. We investigated the correlation between the levels of soluble adhesion molecules and a reduction in contrast-enhancing lesions on gadopentetate di...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410410517
更新日期:1997-05-01 00:00:00
abstract::A case-control study was performed to determine the possible roles of various environmental factors, prior illnesses, drug use, and personal habits in the development of Alzheimer's disease. Such information was collected from 40 patients with onset of dementia prior to age 70 and from 80 community control subjects ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150406
更新日期:1984-04-01 00:00:00
abstract::Twenty-six patients with late-stage Parkinson disease were given 0.4 to 15 mg of pergolide mesylate daily in addition to, or as replacement for, levodopa or bromocriptine therapy. Despite treatment with individually determined optimum doses of levodopa, bromocriptine, and anticholinergics, they had shown response fail...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410120305
更新日期:1982-09-01 00:00:00
abstract::Noradrenergic fibers were identified in rat cervical lymph nodes by fluorescence histochemistry and confirmed by radioenzymatic determination of norepinephrine. After superior cervical ganglionectomy, lymph node norepinephrine and noradrenergic fluorescence were strikingly decreased. The alpha-adrenergic radioligand [...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080509
更新日期:1980-11-01 00:00:00
abstract::The tyrosine kinase receptor RON and its ligand, macrophage stimulating protein (MSP), exert inhibitory effects on systemic innate immunity, but their CNS expression and impact on human neuroinflammatory diseases are unknown were RON and MSP present in human brain perivascular macrophages and microglia, but RON mRNA a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20502
更新日期:2005-06-01 00:00:00
abstract::This study reports a case of type VII mucopolysaccharidosis (beta-glucuronidase deficiency) presenting as lethal hydrops fetalis. Skin fibroblast cultures established postmortem revealed deficient beta-glucuronidase activity. Mucopolysaccharides were stored in various cells of the brain, heart, kidney, liver, and sple...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140415
更新日期:1983-10-01 00:00:00
abstract:OBJECTIVE:Right-handedness and left-sided language lateralization is an unresolved mystery with unknown cause/effect relations. Most studies suggest that the language lateralization is related to a fundamental brain asymmetry: right-handedness may be secondary. We analyzed the possibility of an opposite cause/effect re...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21538
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:Neonatal white matter injury (NWMI) is a lesion found in preterm infants that can lead to cerebral palsy. Although antagonists of bone morphogenetic protein (BMP) signaling, such as Noggin, promote oligodendrocyte precursor cell (OPC) production after hypoxic-ischemic (HI) injury, the downstream functional ta...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24907
更新日期:2017-04-01 00:00:00