Abstract:
:Multiple sclerosis (MS) is the most common idiopathic inflammatory disease of the central nervous system. The distinction between MS and other benign or fulminant inflammatory demyelinating disorders is based on quantitative, rather than qualitative, differences in chronicity and severity. Primary progressive MS may differ from relapsing-remitting MS in MRI lesion frequency, immunogenetic profile, responsiveness to immunosuppressive treatment, and histology. In 60% of patients, MS begins as a relapsing-remitting disease and evolves secondarily into a progressive neurological illness. Life expectancy is not substantially altered in patients with MS, particularly in the early years of the illness. The rate of suicide has been reported to be increased sevenfold in MS patients. Up to 40% of patients with attacks severe enough to render them nonambulatory may not recover. At 15 years from MS onset, 50% of patients are disabled to the point at which they at least require a cane to walk a half block. Early age at onset, female sex, relapsing-remitting course at onset, and perhaps optic neuritis or sensory symptoms at onset and relatively few attacks in the first two years are associated with a favorable course.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Weinshenker BGdoi
10.1002/ana.410360704subject
Has Abstractpub_date
1994-01-01 00:00:00pages
S6-11eissn
0364-5134issn
1531-8249journal_volume
36 Supplpub_type
杂志文章,评审abstract::We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-04-01 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:OBJECTIVE:Amyotrophic lateral sclerosis (ALS) is associated with frontotemporal dementia (FTD) in 14% of cases. Five percent report a family history of ALS, and other ALS patients report a family history of other neurodegenerative diseases. The objective of this study was to conduct a family aggregation study of ALS, a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23969
更新日期:2013-11-01 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:This study was untaken to investigate the association of micro brain infarcts (MBIs) with antemortem global cognitive function (CF), and whether brain weight (BW) and Alzheimer lesions (neurofibrillary tangles [NFTs] or neuritic plaques [NPs]) mediate the association. METHODS:Subjects were 436 well-character...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22520
更新日期:2011-11-01 00:00:00
abstract::We here report the second and third mutations in alphaB-crystallin causing myofibrillar myopathy. Two patients had adult-onset muscle weakness. Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of respiratory failure. Patient 2 had proximal and distal leg muscle weakness. Both had myopathic...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10767
更新日期:2003-12-01 00:00:00
abstract:OBJECTIVE:Whether febrile status epilepticus (FSE) produces hippocampal sclerosis (HS) and temporal lobe epilepsy (TLE) has long been debated. Our objective is to determine whether FSE produces acute hippocampal injury that evolves to HS. METHODS:FEBSTAT and 2 affiliated studies prospectively recruited 226 children ag...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24081
更新日期:2014-02-01 00:00:00
abstract::We report a neurological disease among Cree Indian children in a northern Quebec village. The disease manifests as severe mental retardation, cerebral atrophy with white matter changes and calcifications, and systemic immunological abnormalities. Eleven cases are known in five families. The familial incidence of cases...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240402
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVE:A study was undertaken to describe the clinical spectrum, voltage-gated potassium channel (VGKC) complex antibody specificities, and central nervous system localization of antibody binding in 29 patients diagnosed with Morvan syndrome (MoS). METHODS:Clinical data were collected using questionnaires. Radioimm...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.23577
更新日期:2012-08-01 00:00:00
abstract::Homocarnosine, a dipeptide of gamma-aminobutyric acid (GABA) and histidine, is thought to be an inhibitory neuromodulator synthesized in subclasses of GABAergic neurons. Homocarnosine is present in human brain in greater amounts (0.4-1.0 micromol/g) than in other animals. The antiepileptic drug vigabatrin increases hu...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410440614
更新日期:1998-12-01 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::Patients with the acquired immunodeficiency syndrome (AIDS) commonly display evidence of gross cerebral atrophy, but its true incidence and pathophysiology in the general AIDS population are unknown. In this study, we measured cerebrospinal fluid (CSF) spaces in 64 consecutively autopsied patients with AIDS, compared ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320107
更新日期:1992-07-01 00:00:00
abstract:OBJECTIVE:Accurate identification of the ischemic penumbra, the therapeutic target in acute clinical stroke, is of critical importance to identify patients who might benefit from reperfusion therapies beyond the established time windows. Therefore, we aimed to validate magnetic resonance imaging (MRI) mismatch-based pe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25479
更新日期:2019-06-01 00:00:00
abstract:OBJECTIVE:Cerebellar dysfunction in multiple sclerosis (MS) contributes significantly to disability, is relatively refractory to symptomatic therapy, and often progresses despite treatment with disease-modifying agents. We previously observed that sodium channel Nav1.8, whose expression is normally restricted to the pe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22665
更新日期:2012-02-01 00:00:00
abstract::The possibility of detecting acute hypoxic-ischemic brain lesions by prenatal magnetic resonance imaging or ultrasound is low. We present a case of a fetus with a vein of Galen arteriovenous malformation in whom prenatal diffusion-weighted magnetic resonance imaging at 33 weeks of gestation clearly detected cerebral a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10255
更新日期:2002-08-01 00:00:00
abstract::GM1b is a minor ganglioside in human peripheral nerves. Serum anti-GM1b antibodies frequently are present in patients with Guillain-Barré syndrome (GBS). In this collaborative study, we investigated the antecedent infections, clinical features, and response to treatment of GBS patients with anti-GM1b antibodies. Of 13...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract::Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10503
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the human central nervous system. Although the clinical impact of gray matter pathology in MS brains is unknown, 30 to 40% of MS patients demonstrate memory impairment. The molecular basis of this memory dysfunction has not yet been investiga...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22337
更新日期:2011-03-01 00:00:00
abstract:OBJECTIVE:Cognitive impairment is common in epilepsy, particularly in memory function. Interictal spikes (IISs) are thought to disrupt cognition, but it is difficult to delineate their contribution from general impairments in memory produced by etiology and seizures. We investigated the transient impact of focal IISs o...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21896
更新日期:2010-02-01 00:00:00
abstract::Although the static encephalopathies of childhood are common, little is known of the underlying alterations in the neurochemical anatomy of the brain. Using quantitative morphological techniques, we examined the effect of perinatal hypoxia-ischemia on the number and distribution of cholinergic (ACh) neurons in a unila...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410270113
更新日期:1990-01-01 00:00:00
abstract:OBJECTIVE:To develop and validate a questionnaire for assessing cutaneous allodynia (CA), and to estimate the prevalence and severity of CA in the migraine population. METHODS:Migraineurs (n = 11,388) completed the Allodynia Symptom Checklist, assessing the frequency of allodynia symptoms during headache. Response opt...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21211
更新日期:2008-02-01 00:00:00
abstract:OBJECTIVE:To understand the mechanisms of skeletal muscle destruction and resistance to enzyme replacement therapy in Pompe disease, a deficiency of lysosomal acid alpha-glucosidase (GAA), in which glycogen accumulates in lysosomes primarily in cardiac and skeletal muscles. METHODS:We have analyzed compartments of the...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20807
更新日期:2006-04-01 00:00:00
abstract::The term Charcot-Wilbrand syndrome (CWS) denotes dream loss following focal brain damage. We report the first case of CWS, in whom neuropsychological functions, extension of the underlying lesion, and sleep architecture changes were assessed. A 73-year-old woman reported a total dream loss after acute, bilateral occip...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20246
更新日期:2004-10-01 00:00:00
abstract::The published information on glutamate levels in cerebrospinal fluid (CSF) and modifications in neurological disorders is controversial. In the present study, we demonstrated a metabolic instability of glutamate in untreated CSF and a spurious elevation of its levels by the current methods of CSF acidification. These ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330316
更新日期:1993-03-01 00:00:00
abstract::We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including chromosome 15q11-13 deletions (class I), uniparental disomy (class II), methylation imprinting abnormalities (class III), and mutation in the UBE3A gene (class IV). Twenty patients were prospectively selected based on clinical cytogene...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430412
更新日期:1998-04-01 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::An inverse relationship between the cerebrospinal fluid (CSF) opening pressure and the corresponding protein value was found for patients with idiopathic pseudotumor cerebri who underwent their first lumbar puncture (LP) prior to the initiation of therapy. This relationship provides evidence for a pressure-dependent b...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190116
更新日期:1986-01-01 00:00:00
abstract::Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We pres...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260412
更新日期:1989-10-01 00:00:00
abstract::Six patients with Parkinson's disease were followed for 10 to 72 months after human embryonic mesencephalic tissue from four to seven donors was grafted unilaterally into the putamen (4 patients) or putamen plus caudate (2 patients). After 8 to 12 months, positron emission tomography showed a 68% increase of 6-L-[18F]...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420115
更新日期:1997-07-01 00:00:00
abstract::The etiopathogenesis of Parkinson's disease (PD) has been elusive. Recently, several lines of evidence have converged to suggest that defects in the ubiquitin-proteasome system and proteolytic stress underlie nigral pathology in both familial and sporadic forms of the illness. In support of this concept, mutations in ...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.10512
更新日期:2003-01-01 00:00:00