Abstract:
:To this day, the cause of multiple system atrophy (MSA) remains stubbornly enigmatic. A growing body of observations regarding the clinical, morphological, and biochemical phenotypes of MSA has been published, but the interested student is still left without a clue as to its underlying cause. MSA has long been considered a rare cousin of Parkinson's disease and cerebellar degeneration; it is rich in acronyms but poor in genetic and environmental leads. Because of the worldwide research efforts conducted over the last two decades and the discovery of the alpha-synuclein-encoding SNCA gene as a cause of rare familial Parkinson's disease, the MSA field has seen advances on three fronts: the identification of its principal cellular target, that is, oligodendrocytes; the characterization of alpha-synuclein-rich glial cytoplasmic inclusions as a suitable marker at autopsy; and improved diagnostic accuracy in living patients resulting from detailed clinicopathological studies. The working model of MSA as a primary glial disorder was recently strengthened by the finding of dysregulation in the metabolism of myelin basic protein and p25alpha, a central nervous system-specific phosphoprotein (also called tubulin polymerization promoting protein, TPPP). Intriguingly, in early cases of MSA, the oligodendrocytic changes in myelin basic protein and p25alpha processing were recorded even before formation of glial cytoplasmic inclusions became detectable. Here, we review the evolving concept that MSA may not just be related to Parkinson's disease but also share traits with the family of demyelinating disorders. Although these syndromes vary in their respective cause of oligodendrogliopathy, they have in common myelin disruption that is often followed by axonal dysfunction.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Wenning GK,Stefanova N,Jellinger KA,Poewe W,Schlossmacher MGdoi
10.1002/ana.21465subject
Has Abstractpub_date
2008-09-01 00:00:00pages
239-46issue
3eissn
0364-5134issn
1531-8249journal_volume
64pub_type
杂志文章,评审abstract::Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 3...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20683
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:T2-weighted magnetic resonance imaging is a sensitive tool for monitoring progression of multiple sclerosis, but it does not provide information on the severity of the underlying tissue damage. Measurement of T1 hypointensities and magnetization transfer ratio (MTR) can potentially distinguish lesions with mo...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21113
更新日期:2007-09-01 00:00:00
abstract::Patients with senile dementia of the Alzheimer type frequently have difficulty performing visual tasks. These difficulties may be due, at least partially, to degenerative changes in both the primary visual pathway and the visual association areas. To determine whether retinal ganglion cell dysfunction contributes to v...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260208
更新日期:1989-08-01 00:00:00
abstract:OBJECTIVE:The Epi4K Consortium recently identified 4 de novo mutations in the γ-aminobutyric acid type A (GABAA ) receptor β3 subunit gene GABRB3 and 1 in the β1 subunit gene GABRB1 in children with one of the epileptic encephalopathies (EEs) Lennox-Gastaut syndrome (LGS) and infantile spasms (IS). Because the etiology...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24631
更新日期:2016-05-01 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::Infection by the human immunodeficiency virus type 1 (HIV-1) often results in neurological dysfunction including HIV dementia (HIVD). Alterations in cytokine and redox balance are thought to play important roles in the pathogenesis of HIVD, but the specific mechanisms underlying neuronal dysfunction and death are unkn...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10828
更新日期:2004-02-01 00:00:00
abstract::We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.10628
更新日期:2003-01-01 00:00:00
abstract::Brain tissue from normal individuals with incidental Lewy bodies and cell loss in pigmented substantia nigra neurons (asymptomatic Parkinson's disease) and age-matched control subjects without nigral Lewy bodies was examined biochemically. There was no difference in dopamine levels or dopamine turnover in the caudate ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350107
更新日期:1994-01-01 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::To determine the role of recombinant human erythropoietin as a possible treatment option in Friedreich's ataxia, we performed an open-label clinical pilot study. Primary outcome measure was the change of frataxin levels at week 8 versus baseline. Twelve Friedreich's ataxia patients received 5,000 units recombinant hum...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21177
更新日期:2007-11-01 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::Because of the association of D-penicillamine (DP) therapy with myasthenia gravis, we have studied long-term DP treatment in five inbred strains of mice with doses comparable to those used in patients with rheumatoid arthritis. No clinical weakness or anti-acetylcholine receptor (AChR) antibody developed with up to 6 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160103
更新日期:1984-07-01 00:00:00
abstract::Cylindrical spirals are unique membranous structures that were detected in skeletal muscle of a mother and one of her two children; all three have percussion myotonia but no evidence of weak or wasted skeletal muscles. Muscle cramps, stiffness, posteffort muscle tightness, myotonic lid lag, and the cylinders appear or...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070608
更新日期:1980-06-01 00:00:00
abstract::Twenty patients with Parkinson's disease were treated with the 8-alpha-ergoline derivative mesulergine. Participants were divided into two groups, and over a nine-week period, mesulergine dosage was increased to a maximum of either 10 or 20 mg daily. During this time levodopa-carbidopa (LD-CD) dosage was reduced and t...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410170405
更新日期:1985-04-01 00:00:00
abstract:OBJECTIVE:A 12-month double-blind sham-surgery-controlled trial assessing adeno-associated virus type 2 (AAV2)-neurturin injected into the putamen bilaterally failed to meet its primary endpoint, but showed positive results for the primary endpoint in the subgroup of subjects followed for 18 months and for several seco...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/ana.24436
更新日期:2015-08-01 00:00:00
abstract::Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11-13. This region encompasses three GABAA receptor subunit genes (beta3, alpha5, and gamma3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the mo...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400109
更新日期:1996-07-01 00:00:00
abstract::The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160109
更新日期:1984-07-01 00:00:00
abstract::Three young adults with intractable complex partial seizures were studied by electroencephalography, magnetoencephalography, and electrocorticography. Interictal electroencephalographic (EEG) spikes for each patient were grouped according to their morphological characteristics and distribution across channels. Mapping...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220311
更新日期:1987-09-01 00:00:00
abstract::Endoneurial fluid pressure (EFP) was recorded by an active, servo-null pressure system after a glass micropipette was inserted into rat sciatic nerve undergoing wallerian degeneration. The lesions were produced by crushing the left sciatic nerve of the anesthetized animal at its point of entry into the thigh. Eighty-f...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050610
更新日期:1979-06-01 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: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::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::A 65-year-old woman with normal pressure hydrocephalus experienced improved gait and hydrocephalus following surgical resection of a cauda equina neurinoma. Fibrinogen, detected in the cerebrospinal fluid, may be involved in the pathophysiological process of normal pressure hydrocephalus. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410270414
更新日期:1990-04-01 00:00:00
abstract::Regular, evidence-based assignment of patients to etiologic stroke categories is essential to enable valid comparison among studies. We designed an algorithm (SSS-TOAST) that incorporated recent advances in stroke imaging and epidemiology to identify the most probable TOAST category in the presence of evidence for mul...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20617
更新日期:2005-11-01 00:00:00
abstract::Previous studies using two seizure paradigms, electroconvulsive shock and kindling, suggested potential sites of endogenous thyrotropin-releasing hormone (TRH) action in specific epileptogenic areas. We studied TRH gene expression and TRH receptors in rat limbic areas using the kindling model of epilepsy. Immunoassaya...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330112
更新日期:1993-01-01 00:00:00
abstract::The activities of monoacylglycerol and diacylglycerol lipases were 6 to 8 times higher in plasma membrane and synaptosomal plasma membrane fractions of nucleus basalis from patients with Alzheimer's disease than in those membranes from normal human brains. Membranes from the hippocampus region of Alzheimer-affected br...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230317
更新日期:1988-03-01 00:00:00
abstract::Transcranial magnetic stimulation was performed in 2 patients with focal motor seizures in the right hand caused by a circumscribed tumor process affecting the left precentral gyrus. In both cases, paired-pulse transcranial magnetic stimulation showed a loss of intracortical inhibition for interstimulus intervals of 2...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10229
更新日期:2002-07-01 00:00:00
abstract::Gustatory sweating is an autonomic disorder that frequently occurs after parotid gland surgery. We investigated the action of intracutaneous injections of botulinum toxin (BTX) (1.0-2.0 mouse units/2.25-cm2 skin area) in 45 patients (mean age, 52 years) with gustatory sweating. The area of hyperhidrosis was determined...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410420619
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:To analyze the cumulative efficacy and safety of everolimus in treating subependymal giant cell astrocytomas (SEGA) associated with tuberous sclerosis complex (TSC) from an open-label phase II study (NCT00411619). Updated data became available from the conclusion of the extension phase and are presented in th...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24523
更新日期:2015-12-01 00:00:00
abstract::The development of a neuroprotective therapy that slows, stops, or reverses neurodegeneration in Parkinson's disease (PD) is the single most important unresolved issue in the management of this disorder. Current therapies provide effective control of symptoms, particularly in the early stages of the disease, but disea...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21461
更新日期:2008-12-01 00:00:00