Abstract:
:Actin filaments in skin fibroblasts from patients with Huntington's disease (HD) were examined using immunofluorescent methods. Actin filaments were seen along the axis of cell elongation (stress or sheath filaments) as well as in areas of membrane ruffling (lattice filaments). In some cases, filaments appeared to radiate from foci within the cell. Bundles of these filaments radiated in various directions at different depths within a cell. These structures are similar, in cells from both normal individuals and HD patients, to actin filaments observed in other cell types. The higher-than-normal confluent densities achieved in culture by fibroblasts from patients with Huntington's chorea do not involve alterations in the ultrastructure of actin filaments.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Geary LE,Lazarides E,Goetz I,Roberts Edoi
10.1002/ana.410040614keywords:
subject
Has Abstractpub_date
1978-12-01 00:00:00pages
554-6issue
6eissn
0364-5134issn
1531-8249journal_volume
4pub_type
杂志文章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::We report an immunohistochemical study of the mitochondrial alpha-ketoglutarate dehydrogenase complex (KGDHC) in the substantia nigra in Parkinson's disease. The KGDHC, the three enzyme complex catalyzing the oxidation of alpha-ketoglutarate to succinate through succinic semialdehyde, is the rate-regulating enzyme of ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350212
更新日期:1994-02-01 00:00:00
abstract::We have observed many focal dilatations or very small aneurysms in terminal arterioles and capillaries of 4 of 5 patients and 6 dogs who had recently undergone cardiopulmonary bypass. A smaller number of sausagelike dilatations distended medium-sized arterioles. Two other patients had a small number of the same microv...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280403
更新日期:1990-10-01 00:00:00
abstract:OBJECTIVE:Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits. ME...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25433
更新日期:2019-04-01 00:00:00
abstract::Recently, the excitatory amino acid neurotransmitter glutamate was implicated in the pathogenesis of a variety of chronic degenerative neurological diseases in humans and animals. This report describes abnormalities in excitatory amino acids in the central nervous system of 18 patients with amyotrophic lateral scleros...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280106
更新日期:1990-07-01 00:00:00
abstract::Concanavalin A (Con A)-activated suppressor cell activity was determined in multiple sclerosis (MS) patients who had been assigned to one of three subgroups, those with active disease, those recovering from a flare-up, and those with stable disease. The level of suppression induced by the Con A-activated suppressor ce...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050406
更新日期:1979-04-01 00:00:00
abstract:OBJECTIVE:Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS:Over the past 9 years, we have enrolled and studied a cohort of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25198
更新日期:2018-04-01 00:00:00
abstract::Neurotrophic factors have been demonstrated to prevent the development of peripheral neuropathy in animal models, but the therapeutic use of these factors in human disease has been limited by the short serum half-life and dose-limiting side effects of these potent peptides. We used peripheral subcutaneous inoculation ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10061
更新日期:2002-01-01 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::MK-801 and ketamine are noncompetitive N-methyl-D-aspartate (NMDA) receptor blockers that decrease brain injury in animal models of focal and global ischemia. Recent reports, however, suggested that MK-801 itself can damage neurons. Here we show that MK-801 (0.1 to 5.0 mg/kg) and ketamine (40 to 100 mg/kg) typically i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300609
更新日期:1991-12-01 00:00:00
abstract::Indirect evidence suggests that an autoimmune response to myelin basic protein (MBP) may be involved in the pathogenesis of multiple sclerosis (MS). In MS, several reports have suggested that restricted T-cell populations respond to MPB, as in inbred rodents with the MS disease model experimental allergic encephalomye...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340313
更新日期:1993-09-01 00:00:00
abstract::The accuracy of a variety of finger and color confrontation tests in identifying chiasmal and optic nerve visual field defects was assessed in patients whose field defects had been established beforehand by a conventional achromatic kinetic technique on the Goldmann perimeter. Kinetic and static finger confrontation m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410100105
更新日期:1981-07-01 00:00:00
abstract::A 37-year-old homosexual man with the acquired immune deficiency syndrome (AIDS) developed progressive, ultimately fatal, neurological deficits 12 weeks after a course of cutaneous zoster. Premortem radiological procedures and cerebrospinal fluid analyses were nondiagnostic. At postmortem examination, several opportun...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190212
更新日期:1986-02-01 00:00:00
abstract::Units linked to stimulation of the superior sagittal sinus were identified and recorded from in the trigeminocervical complex of the anesthetized cat. Iontophoresis of glutamate NMDA receptor agonists increased the baseline-firing rate of these neurons. Coejection of sumatriptan, 4991W93, or ergometrine resulted in a ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10066
更新日期:2001-12-01 00:00:00
abstract:OBJECTIVE:The relationship between genetic variation in the T-type calcium channel gene CACNA1H and childhood absence epilepsy is well established. The purpose of this study was to investigate the range of epilepsy syndromes for which CACNA1H variants may contribute to the genetic susceptibility architecture and determ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21169
更新日期:2007-12-01 00:00:00
abstract::We prospectively recruited 10 patients who presented with urinary retention as a neurological deficit that was attributable to lateral medullary infarction. Of these, 9 patients underwent a urodynamic study, which demonstrated detrusor underactivity of the bladder in 7 patients. Urinary retention developed mainly when...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24379
更新日期:2015-04-01 00:00:00
abstract::Ten patients developed a subacute lower motor neuron syndrome as a remote effect of Hodgkin's disease or other lymphoma. The illness usually followed a benign course independent of the activity of the underlying neoplasm. Seven of the patients improved spontaneously, and 3 became neurologically normal. Two patients di...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050310
更新日期:1979-03-01 00:00:00
abstract:OBJECTIVE:The cellular and molecular mechanisms underlying magnetic resonance imaging-defined white matter (WM) changes associated with age-related cognitive decline remain poorly defined. We tested the hypothesis that WM lesions in older adults, defined by diffusion tensor imaging (DTI), arise in the setting of vascul...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22484
更新日期:2011-09-01 00:00:00
abstract::A 51-year-old man with non-HLA-DR2 histocompatibility developed classic signs and symptoms of the narcoleptic tetrad soon after recovering from an episode of cardiopulmonary insufficiency, which occurred during induction of surgical anesthesia. Symptoms included excessive daytime sleepiness, hypnagogic hallucinations,...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190516
更新日期:1986-05-01 00:00:00
abstract::A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X)....
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10404
更新日期:2002-12-01 00:00:00
abstract::Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. It has been hypothesized that it is caused by loss of "pause" neuronal inhibition of "burst" neuron function in the paramedian pontine reticular formation (PPRF); however, there have been no imaging studies confirmi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1140
更新日期:2001-09-01 00:00:00
abstract::We performed magnetic resonance imaging and magnetic resonance spectroscopic imaging on 28 patients with multiple sclerosis stratified for disability and clinical course (relapsing with at least partial remissions or secondary progressive disease). Lesions were segmented on the conventional proton density and T2-weigh...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410410314
更新日期:1997-03-01 00:00:00
abstract::Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract::Interpretation of biochemical measurements in the human brain after death is complicated by a variety of premortem, perimortem, and postmortem factors. The activity of glutamic acid decarboxylase (GAD) in particular has been found to vary considerably among human brains. In contrast to neurotransmitter-associated enzy...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410100410
更新日期:1981-10-01 00:00:00
abstract::The detection of 14-3-3 protein by Western immunoblot is a sensitive and specific cerebrospinal fluid marker of Creutzfeldt-Jakob disease (CJD). We developed a quantitative enzyme-linked immunosorbent assay (ELISA) that reliably detects 14-3-3 in cerebrospinal fluid. In a prospective study of 147 cerebrospinal fluid s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract::We registered 366 families in a study of dominantly inherited amyotrophic lateral sclerosis. Two hundred ninety families were screened for mutations in the gene encoding copper-zinc cytosolic superoxide dismutase (SOD1). Mutations were detected in 68 families. The most common SOD1 mutation is an alanine for valine sub...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410410212
更新日期:1997-02-01 00:00:00
abstract::Axonal loss is thought to be a likely cause of persistent disability after a multiple sclerosis relapse; therefore, noninvasive in vivo markers specific for axonal loss are needed. We used optic neuritis as a model of multiple sclerosis relapse to quantify axonal loss of the retinal nerve fiber layer (RNFL) and second...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20575
更新日期:2005-09-01 00:00:00
abstract::Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is defici...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-02-01 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::The prevalence and titer of serum antibodies to several Epstein-Barr virus (EBV) antigens were compared among patients with multiple sclerosis, healthy siblings of multiple sclerosis patients, patients with other neurological diseases, and healthy non-blood-related subjects. Serum-cerebrospinal fluid (serum-CSF) pairs...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170412
更新日期:1985-04-01 00:00:00