Abstract:
:A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations. Patients with alpha-sarcoglycan gene mutations were clinically heterogeneous and showed either a rapid progressive or a late-onset slow course. In the slowly evolving group, a residual alpha-sarcoglycan protein was present, and its level correlated with a milder disease course and significant later inability to stand up from the floor (p < 0.00005). Most patients with beta- and gamma-sarcoglycan gene mutations presented a severe clinical course. There is a considerably different pattern of muscle involvement and disease course in these disorders, compared with dystrophinopathies.
journal_name
Neurologyjournal_title
Neurologyauthors
Angelini C,Fanin M,Freda MP,Duggan DJ,Siciliano G,Hoffman EPdoi
10.1212/wnl.52.1.176subject
Has Abstractpub_date
1999-01-01 00:00:00pages
176-9issue
1eissn
0028-3878issn
1526-632Xjournal_volume
52pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract:OBJECTIVE:To evaluate the presence of prodromal markers of Parkinson disease (PD) in patients with longstanding idiopathic REM sleep behavior disorder (IRBD), a small subgroup of individuals with IRBD with long-term follow-up thought not to be at risk of developing PD. METHODS:Demographic, clinical, and neuroimaging m...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000004121
更新日期:2017-07-18 00:00:00
abstract::To determine the frequency of subjective sleep problems in spinocerebellar ataxia type 6 (SCA6), the authors surveyed 25 patients and 25 age-matched controls with the Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI). The ESS was higher in patients with SCA6 (9.12 +/- 5.80; CI: 2.28) than in con...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000210485.37521.0b
更新日期:2006-05-09 00:00:00
abstract::Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory....
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000143060.98164.1a
更新日期:2004-11-09 00:00:00
abstract::Biochemical analysis of muscle in a 37-year-old man with exercise intolerance, myalgia, recurrent myoglobinuria, and retinitis pigmentosa showed phosphoglycerate kinase (PGK) deficiency. Kinetic and physical characteristics of the mutant enzyme differed from those of two previously reported cases, suggesting a distinc...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.43.2.387
更新日期:1993-02-01 00:00:00
abstract:OBJECTIVE:To assess the predominant type of cerebral small vessel disease (SVD) and recurrence risk in patients who present with a combination of lobar and deep intracerebral hemorrhage (ICH)/microbleed locations (mixed ICH). METHODS:Of 391 consecutive patients with primary ICH enrolled in a prospective registry, 75 (...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000004797
更新日期:2018-01-09 00:00:00
abstract::We performed a retrospective study to characterize the type, frequency, and timing of neurologic complications in patients with B-cell chronic lymphocytic leukemia (B-CLL). We reviewed 962 total charts with a median follow-up time of 57.5 months. There were 109 cases (11.3%) of neurologic complications, including 69 c...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.48.2.407
更新日期:1997-02-01 00:00:00
abstract::A 41-year-old man presented with bilateral posterior cerebral artery infarcts. He had visual object agnosia and prosopagnosia with preservation of reading abilities. There was also defective visual memory, topographic orientation, and color perception, as well as simultanagnosia. From the clinical facts and CT finding...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.7.947
更新日期:1984-07-01 00:00:00
abstract:OBJECTIVE:Glatiramer acetate (formerly known as copolymer 1) is the major noninterferon immunomodulatory agent used in the treatment of relapsing-remitting multiple sclerosis. Its mechanism of action over the past 40 years has evolved with our understanding of the immune response. METHODS:We review the various mechani...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/WNL.0b013e3181c97e39
更新日期:2010-01-05 00:00:00
abstract::The shortening reaction of tibialis anterior was observed in 6 of 25 normal subjects, in 6 of 40 patients with upper motor neuron syndromes, and in 11 of 17 patients with Parkinson's disease. The latency of the shortening reaction was comparable with that of the latter part of the long-latency stretch reflexes. The ma...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.2.242
更新日期:1984-02-01 00:00:00
abstract::Orthostatic hypotension is a fall in blood pressure on standing that causes symptoms of dizziness, visual changes, and discomfort in the head and neck. The goal of treatment is the improvement of the patient's functional capacity, rather than a target blood pressure. For treatment to be successful, it must be individu...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:
更新日期:1995-04-01 00:00:00
abstract:OBJECTIVE:To identify regional metabolic brain networks related specifically to the presence of tremor in PD. BACKGROUND:The pathophysiology of parkinsonian tremor is unknown. Because tremor in PD occurs mainly in repose, we used resting state PET with 18F-fluorodeoxyglucose (FDG) to identify specific metabolic brain ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.51.3.803
更新日期:1998-09-01 00:00:00
abstract::A 32-year-old patient with seizures experienced decreased right-ear hearing during electrocortical stimulation mapping of the left lateral superior temporal gyrus. Audiometric testing under headphones confirmed a reversible, moderate unilateral hearing loss. Under binaural listening conditions, auditory comprehension ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.WNL.0000149524.11371.B1
更新日期:2005-01-25 00:00:00
abstract::The authors report two patients with suspected brain death who required confirmatory tests other than clinical examination because of prolonged barbiturate administration for intracranial hypertension. Absence of intracranial blood flow was documented on CT angiography and confirmed by CT perfusion images. Cerebral an...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.62.4.652
更新日期:2004-02-24 00:00:00
abstract::Gamma hydroxybutyrate was administered to adult cats by intravenous infusion at varying dosages while an electroencephalogram (EEG) was recorded from electrodes placed stereotactically in the right and left hippocampus and thalamic intralaminar nucleus and from cortical electrodes. Blood cerebrospinal fluid samples we...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.26.1.51
更新日期:1976-01-01 00:00:00
abstract:BACKGROUND:Infection with HIV can result in a debilitating CNS disorder known as HIV dementia (HIV-D). Since the advent of highly active antiretroviral therapy (HAART), the incidence of HIV-D has declined, but the prevalence continues to increase. In this new era of HIV-D, traditional biomarkers such as CSF viral load ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000260610.79853.47
更新日期:2007-05-01 00:00:00
abstract::A patient developed an amnesic syndrome after cardiopulmonary arrest. Neuropathologic examination revealed pronounced anoxic injury to both hippocampi with little damage to other hemisphere structures. The clinical and pathologic findings suggest that lesions limited to the hippocampus can cause profound amnesia. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.5.679
更新日期:1984-05-01 00:00:00
abstract:OBJECTIVE:Evaluating the TBI incidence during the COVID-19 pandemic era compared with similar period in previous year. BACKGROUND:The emergence of SARS-CoV2 influenced the evolution of governmental and hospital policy worldwide, which might eventually impact many aspects. The incidence of many diseases in the Emergenc...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000719968.10580.81
更新日期:2020-11-17 00:00:00
abstract:OBJECTIVE:To estimate rates, predictors, and prognostic importance of recanalization in an unselected series of patients with stroke treated with IV thrombolysis. METHODS:We performed a CT angiography or transcranial Doppler (TCD) follow-up examination 24 hours after IV thrombolysis in 64 patients with documented occl...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000250341.38014.d2
更新日期:2007-01-02 00:00:00
abstract::Manipulation of afferent inputs may temporarily modulate dystonic spasms. Ten patients with writer's cramp were enrolled in a double-blind, randomized, crossover study in which the effects of transcutaneous electrical stimulation (TENS) and placebo treatment were compared. Patients were evaluated using four measures o...
journal_title:Neurology
pub_type: 杂志文章,随机对照试验
doi:10.1212/01.WNL.0000163851.70927.7E
更新日期:2005-06-14 00:00:00
abstract::A prospective trial of plasmapheresis and azathioprine or azathioprine alone was carrier out on 20 patients with chronic progressive MS. Seven of 10 patients in each group continued therapy for 12 months. When the groups were compared by disability ratings, the combination of plasmapheresis and azathioprine was no bet...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.32.7.739
更新日期:1982-07-01 00:00:00
abstract::We describe the clinical, pathologic, and ultrastructural findings in a case of juvenile onset neuronal ceroid-lipofuscinosis without visual symptoms or retinal abnormalities. The histochemical and ultrastructural characteristics of the neuronal lipopigment were similar to those in typical cases of neuronal ceroid-lip...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.28.7.710
更新日期:1978-07-01 00:00:00
abstract::Many new treatments under development for Alzheimer disease (AD) will be disease-modifying rather than symptomatic. Clinical evaluation of these treatments will require primary and secondary prevention trials. We describe some of the methodologic challenges in designing primary prevention trials for AD and illustrate ...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.67.9_suppl_3.s2
更新日期:2006-11-14 00:00:00
abstract:BACKGROUND:There is controversy over whether seizures, the most common manifestation of neonatal brain injury, may themselves damage the developing brain. OBJECTIVE:To determine if neonatal seizures are independently associated with brain injury in newborns with perinatal asphyxia. METHODS:Ninety term neonates were s...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.58.4.542
更新日期:2002-02-26 00:00:00
abstract:OBJECTIVE:To study and provide an update on the state of clinical research in neurology in the United States. METHODS:US American Academy of Neurology members and chairs of departments of neurology were surveyed regarding clinical research in 2016. NIH data on the neuroscience pipeline and extramural grant funding wer...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000005295
更新日期:2018-04-10 00:00:00
abstract:OBJECTIVE:To investigate the effect of optimal combination of evidence-based drug therapies including antihypertensive agents, lipid modifiers, and antithrombotic agents on risk of recurrent vascular events after stroke. METHODS:We analyzed the database of a multicenter trial involving 3,680 recent noncardioembolic st...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001099
更新日期:2015-01-06 00:00:00
abstract:OBJECTIVES:To identify gene mutations in patients with dystroglycanopathy and prove pathogenicity of those mutations using an in vitro cell assay. METHODS:We performed whole-exome sequencing on 20 patients, who were previously diagnosed with dystroglycanopathy by immunohistochemistry and/or Western blot analysis. We a...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001162
更新日期:2015-01-20 00:00:00
abstract:BACKGROUND:Photophobia is an abnormal sensitivity to light experienced by migraineurs during attacks. The pathophysiology of photophobia is poorly understood. Nevertheless, 2 facts appear to have a link with photophobia: visual cortex hyperexcitability on the one hand and interactions between visual pathway and trigemi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3182074a57
更新日期:2011-01-18 00:00:00
abstract::We studied 10 patients with transient global amnesia (TGA). Routine electroencephalograms (EEGs) were normal in six; two showed mild temporal lobe abnormalities, one had bitemporal delta activity with rare sharp waves, and one showed bioccipital rhythmic theta activity. Nasopharyngeal (NP) recordings were obtained in ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.29.6.869
更新日期:1979-06-01 00:00:00
abstract:OBJECTIVE:To use a combined neurogenetic-neuroimaging approach to examine the functional consequences of preclinical dopaminergic nigrostriatal dysfunction in the human motor system. Specifically, we examined how a single heterozygous mutation in different genes associated with recessively inherited Parkinson disease a...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000338699.56379.11
更新日期:2009-03-24 00:00:00
abstract::We evaluated cognitive outcome in a group of 37 patients who had undergone surgery for rupture and repair of a single intracranial aneurysm at least 6 months previously. We compared outcome--assessed by tests of intelligence, attention, executive functions sensitive to frontal lobe lesions, memory, neglect, and mood, ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.45.5.876
更新日期:1995-05-01 00:00:00