Abstract:
:Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10 merosin-deficient patients were homogeneous, with severe floppiness at birth, delay in achievement of motor milestones, and magnetic resonance imaging findings of white matter changes with normal intelligence. The 10-kb laminin alpha2-coding sequence was screened for causative mutations by reverse transcriptase-polymerase chain reaction/single-stranded conformational polymorphism analysis in muscle biopsy specimens from 5 patients, followed by automatic sequencing of aberrant conformers. Clear loss-of-function deletion mutations were identified in both alleles of 1 patient. Muscle histopathology in this patient showed a striking inflammatory infiltrate of T cells and B cells. Reexamination of biopsy specimens from other laminin alpha2-deficient patients showed minor signs of inflammation in each. Based on these findings and the histological and clinical picture suggesting failure of muscle regeneration, a pathogenesis model for this major subset of congenital muscular dystrophy is proposed. Our data show that muscle histopathology showing a neonatal inflammatory process should be considered consistent with congenital muscular dystrophy.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Pegoraro E,Mancias P,Swerdlow SH,Raikow RB,Garcia C,Marks H,Crawford T,Carver V,Di Cianno B,Hoffman EPdoi
10.1002/ana.410400515subject
Has Abstractpub_date
1996-11-01 00:00:00pages
782-91issue
5eissn
0364-5134issn
1531-8249journal_volume
40pub_type
杂志文章abstract::We studied 21 patients with complex partial seizures during phenobarbital (PB) or primidone withdrawal. Blood levels were measured daily, and seizure frequency was monitored by nursing staff and EEG-video telemetry. Patients were monitored for one week of baseline and for five weeks after PB tapering was initiated (wi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220515
更新日期:1987-11-01 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::In Alzheimer's disease (AD), loss of cortical and hippocampal choline acetyltransferase (ChAT) activity has been correlated with dementia severity and disease duration, and it forms the basis for current therapies. However, the extent to which reductions in ChAT activity are associated with early cognitive decline has...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10069
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVE:It is estimated that one of four ischemic strokes are noticed upon awakening and are not candidates for intravenous recombinant tissue plasminogen activator (rtPA) because their symptoms are >3 hours from last seen normal (LSN). We tested the safety of rtPA in a multicenter, single-arm, prospective, open-labe...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/ana.24700
更新日期:2016-08-01 00:00:00
abstract::Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Ke...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260603
更新日期:1989-12-01 00:00:00
abstract:OBJECTIVE:To create a data-driven computational model that identifies brain regions most frequently influenced by successful deep brain stimulation (DBS) of the globus pallidus (GP) for advanced, medication-resistant, generalized dystonia. METHODS:We studied a retrospective cohort of 21 DYT1 primary dystonia patients ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24187
更新日期:2014-07-01 00:00:00
abstract::We carried out a comprehensive assessment of eye movements in 2 subjects with impaired facial learning and recognition to determine if the defect might be associated with abnormal scanning of faces. Standard electroculogram showed that fixation, pursuit, saccades, and scanning of salient features of scenes and faces w...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220111
更新日期:1987-07-01 00:00:00
abstract::The objective of this study was to assess which features of temporal lobe proton magnetic resonance spectroscopic imaging (1H-MRSI) are associated with satisfactory surgical outcome in patients with intractable temporal lobe epilepsy and bilateral hippocampal atrophy. We studied 21 patients with intractable temporal l...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00
abstract::Because the symptomatic treatments for multiple sclerosis (MS) are limited, new approaches have been sought. Anatomical studies of MS lesions show a relative preservation of axons, and clinical studies suggest that some of the neurological impairment in patients with MS is physiological. Electrophysiological studies s...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410360728
更新日期:1994-01-01 00:00:00
abstract::Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutar...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24998
更新日期:2017-09-01 00:00:00
abstract::The site of autonomic deficit was investigated in 4 patients with loss of thermoregulatory flushing and sweating on one side of the face but no associated miosis (harlequin syndrome). In 2 patients the sudomotor deficit included the hand. Signs of postganglionic sympathetic deficit included pathological lacrimal sweat...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340610
更新日期:1993-12-01 00:00:00
abstract::Monoclonal antibodies that target CD20 expressing B cells represent an important new treatment option for patients with multiple sclerosis (MS). B-cell-depleting therapy is highly effective against relapsing forms of the disease and is also the first treatment approach proven to protect against disability worsening in...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.25119
更新日期:2018-01-01 00:00:00
abstract::Five monkeys trained to perform with the extremity contralateral to a stimulus had unilateral neglect induced by frontal and reticular formation lesions. Postoperatively the performance of the animals was abnormal only on ipsilateral stimulation, which suggests that the mechanism underlying neglect in these subjects i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030609
更新日期:1978-06-01 00:00:00
abstract::Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor conce...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-05-01 00:00:00
abstract::Discussing the problem of multiple sclerosis and viruses should not be limited to reviewing the epidemiological evidence in favor, or against, a particular candidate, such as Epstein-Barr virus or human herpes virus 6. In this text, I discuss the difficulty of going from association to causation in human epidemiology;...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22057
更新日期:2010-07-01 00:00:00
abstract::Residual tumor cells remain beyond the margins of every glioblastoma (GBM) resection. Their resistance to postsurgical therapy is considered a major driving force of mortality, but their biology remains largely uncharacterized. In this study, residual tumor cells were derived via experimental biopsy of the resection m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22036
更新日期:2010-08-01 00:00:00
abstract::Understanding of the organization and function of a newly identified neuronal messenger molecule, nitric oxide, has progressed rapidly. Nitric oxide synthase has been purified and molecularly cloned from brain. Its localization is exclusively neuronal and endothelial. The catalytic activity of nitric oxide synthase ac...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410320302
更新日期:1992-09-01 00:00:00
abstract::We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first descr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10747
更新日期:2003-11-01 00:00:00
abstract::Cytogenetic analysis has become an important part of the diagnostic evaluation of most hematological neoplasms. However, there is limited information on the value of cytogenetic analysis in most solid tumors, including cerebral astrocytomas. This report summarizes a prospective cytogenetic study of 99 human cerebral a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310512
更新日期:1992-05-01 00:00:00
abstract::Clinical electrophysiological studies are important in the evaluation of patients with Guillain-Barré syndrome. Physiological evidence of demyelination occurs in almost all patients with Guillain-Barré syndrome, especially if serial studies are performed. Criteria for demyelination are proposed. Prognostic information...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410270706
更新日期:1990-01-01 00:00:00
abstract::Serological evidence of either acute cytomegalovirus (CMV) or Epstein-Barr virus (EBV) infection was sought in a large series of patients with Guillain-Barré syndrome (GBS) and control subjects. Using an indirect immunofluorescent technique, IgM antibody directed against CMV was found in the serum of 33 of 220 GBS pat...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090709
更新日期:1981-01-01 00:00:00
abstract::Bilateral ptosis is reported with unilateral hemispheric lesions, suggesting partial lateralization of the control of the levator palpebrae superioris. There is a tight synkinesis between vertical eye and eyelid movements, but a similar, lateralized control of vertical gaze has not been previously described. We report...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400320
更新日期:1996-09-01 00:00:00
abstract::A 41-year-old right-handed man developed disturbances of language and memory after a discrete thalamic infarction. Detailed neuropsychological assessment revealed deficits in verbal fluency, word finding, confrontation naming, and anterograde memory for verbal material. High-resolution computed tomography with stereot...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200604
更新日期:1986-12-01 00:00:00
abstract:OBJECTIVE:Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognized feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this st...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24997
更新日期:2017-08-01 00:00:00
abstract::Patterns of brain dysgenesis that resemble those in the Zellweger syndrome were demonstrated in a boy with an isolated defect of the peroxisomal bifunctional enzyme. There was bilateral centrosylvian pachygyria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell heterotopias...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410390218
更新日期:1996-02-01 00:00:00
abstract::The genetic architecture of common epilepsies is largely unknown. HCNs are excellent epilepsy candidate genes because of their fundamental neurophysiological roles. Screening in subjects with febrile seizures and genetic epilepsy with febrile seizures plus revealed that 2.4% carried a common triple proline deletion (d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21909
更新日期:2010-04-01 00:00:00
abstract::Cerebrospinal fluid (CSF) lymphocytes from three young patients undergoing acute exacerbations of multiple sclerosis were studied by flow cytometry. Using a new method that simultaneously measures cell-surface antigens and the cell-cycle phase, we determined that the CSF lymphocytes in these patients were activated. T...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180617
更新日期:1985-12-01 00:00:00
abstract::Traumatic coma was produced in 45 monkeys by accelerating the head without impact in one of three directions. The duration of coma, degree of neurological impairment, and amount of diffuse axonal injury (DAI) in the brain were directly related to the amount of coronal head motion used. Coma of less than 15 minutes (co...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410120611
更新日期:1982-12-01 00:00:00
abstract::There are no established treatments for patients with acute, severe neurological deficits caused by multiple sclerosis or other inflammatory demyelinating diseases of the central nervous system who fail to recover after treatment with high-dose corticosteroids. We conducted a randomized, sham-controlled, double-masked...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/1531-8249(199912)46:6<878::aid-ana10>3.0.c
更新日期:1999-12-01 00:00:00
abstract::Pallidopyramidal disease is a rare disease of young patients in which they manifest a parkinsonian syndrome and pyramidal signs. Pallidopyramidal disease has been attributed to a degeneration of the pallidum and the pyramidal tract, although only 1 patient has been studied postmortem. In the present report, [18F]fluor...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380618
更新日期:1995-12-01 00:00:00