Abstract:
:We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a single copy of a novel SOD1 mutation, D96N. We propose that in this family both mutations are required for the development of disease.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Hand CK,Mayeux-Portas V,Khoris J,Briolotti V,Clavelou P,Camu W,Rouleau GAdoi
10.1002/1531-8249(20010201)49:2<267::aid-ana51>3.0keywords:
subject
Has Abstractpub_date
2001-02-01 00:00:00pages
267-71issue
2eissn
0364-5134issn
1531-8249journal_volume
49pub_type
杂志文章abstract::The consequences of axonal injuries in the adult nervous system depend on the location of the axons: complete anatomical and functional repair can occur in the peripheral but not the central nervous system. A quantitative electron microscopical comparison of the reactions to axonal injuries in a peripheral site (the s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030203
更新日期:1978-02-01 00:00:00
abstract::Cerebral blood flow (CBF) velocity is decreased in patients with Alzheimer's disease. It is being debated whether this reflects diminished demand because of advanced neurodegeneration or that cerebral hypoperfusion contributes to dementia. We examined the relation of CBF velocity as measured with transcranial Doppler ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20493
更新日期:2005-06-01 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::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::Based on earlier findings that the presence of word comprehension impairment (a deficit in the meaning of words, or lexical semantics) in acute stroke was strongly associated with the presence of hypoperfusion or infarct in Wernicke's area, we tested the hypothesis that the severity of word comprehension impairment wa...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.1265
更新日期:2001-11-01 00:00:00
abstract::A recent controlled clinical trial suggested a role for amantadine as a treatment for pathological gambling in patients with Parkinson disease (PD). Analyzing data from a large cross-sectional study of impulse control disorders (ICDs) in PD, amantadine use (n = 728), vs no amantadine use (n = 2,357), was positively as...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22164
更新日期:2010-12-01 00:00:00
abstract::Sera from 6 of 12 patients with paraneoplastic cerebellar degeneration (PCD) contained anti-Purkinje cell antibodies, as determined by indirect immunofluorescence on frozen sections of normal human cerebellum. Samples of cerebrospinal fluid from 2 of the patients with serum antibodies were tested, and both specimens c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180513
更新日期:1985-11-01 00:00:00
abstract::We report on 3 anti-Hu-positive patients who presented with clinical and electroencephalographic (EEG) features of epilepsia partialis continua (EPC). Two of the patients had an associated small cell carcinoma. Magnetic resonance imaging (MRI) disclosed a hyperintense nonenhancing focal lesion in T2-weighted images in...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199902)45:2<255::aid-ana18>3.0.c
更新日期:1999-02-01 00:00:00
abstract::The nucleotide sequence of human T-lymphotropic virus type I (HTLV-I) in central nervous system tissue was determined in 3 autopsy cases with HTLV-I-associated myelopathy (HAM)/tropical spastic paraparesis (TSP) and 1 seropositive carrier without HAM/TSP but with multiple sclerosis. All HAM/TSP samples (3 spinal cords...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360206
更新日期:1994-08-01 00:00:00
abstract::We previously reported that the monoclonal antibody Alz-50 recognizes a protein (A68) with an apparent molecular weight of 68,000 daltons in the brains of patients who died with Alzheimer's disease, but not in brain tissue from individuals free of neurological disease. We now report that substantial quantities of this...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220412
更新日期:1987-10-01 00:00:00
abstract::Apolipoprotein E has been implicated in modifying neurological outcome after traumatic brain injury, although the mechanisms by which this occurs remain poorly defined. To investigate the role of endogenous apolipoprotein E following acute brain injury, noninvasive magnetic resonance imaging was performed on anestheti...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10098
更新日期:2002-01-01 00:00:00
abstract::Unverricht-Lundborg disease is a clinically recognizable form of progressive myoclonus epilepsy. Recently, in several families of both Finnish and Mediterranean extraction segregating Unverricht-Lundborg disease, the gene for this disease was linked to the same region of the long arm of chromosome 21. We performed lin...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340519
更新日期:1993-11-01 00:00:00
abstract::The monoclonal antibodies anti-Leu-19 and anti-NKH-1 recognize the CD56 differentiation antigen expressed on natural killer (NK) cells and on a T-cell subset. Because CD56 is an isoform of neural cell adhesion molecule (N-CAM), we examined its expression on human muscle using antibodies to Leu-19, NKH-1, and purified ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310109
更新日期:1992-01-01 00:00:00
abstract::In aphasia due to stroke, language-related activity shifts not only to undamaged cortex within the dominant hemisphere but also toward right-sided areas homotopical to the left-sided lesion. We examined whether a rightward shift takes place in primary progressive aphasia (PPA). Nineteen PPA patients participated, 19 h...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.20588
更新日期:2005-09-01 00:00:00
abstract::A patient with generalized convulsions noted that seizures were reliably precipitated by mental arithmetic. The interictal electroencephalogram revealed only a mild, diffuse, nonspecific disturbance, but bursts of generalized epileptiform activity with no obvious clinical expression accompanied efforts at mental arith...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110609
更新日期:1982-06-01 00:00:00
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 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::Two extended haplotypes of the tau gene (H1 and H2) have been described. The frequency of H1 haplotype is increased in progressive supranuclear palsy (PSP). PSP is associated with filamentous tau lesions in neurons and glia, which are reportedly composed exclusively of tau isoforms with four repeats in the microtubule...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1159
更新日期:2001-10-01 00:00:00
abstract::A 40-year-old man with relapsing-remitting multiple sclerosis (MS) developed primary central nervous system lymphoma (PCNSL) after having received 21 doses of natalizumab monotherapy. PCNSL is a disease of the elderly, with the majority of patients being diagnosed in the 7th to 8th decade of life. Immunodeficiency, ia...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21782
更新日期:2009-09-01 00:00:00
abstract::Ferric ion-ferrocyanide (Fe-FeCN) staining was used to stain nodes of Ranvier in remyelinating central nervous system (CNS) axons following viral-induced demyelination. As at normal nodes, Fe-FeCN staining was observed on the cytoplasmic surface of the nodal axolemma of remyelinated fibers. These fibers were identifie...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080606
更新日期:1980-12-01 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::The mechanism by which iron enters the central nervous system from the blood is not well understood. Iron in blood plasma is totally bound to transferrin (Tf), a major plasma glycoprotein. Tf receptors are present on the blood-brain barrier (BBB) endothelium. It is not known whether iron separates from Tf during its p...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320709
更新日期:1992-01-01 00:00:00
abstract::One hundred fifty autopsy brains from patients with clinically diagnosed Alzheimer's disease (AD) were examined pathologically. The brains were received consecutively over a 3-year period from numerous sources as part of a research program in which one brain half was frozen for biochemical studies and the other half w...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240110
更新日期:1988-07-01 00:00:00
abstract::Growth hormone (GH) is neuroprotective, presumably through its actions on GH receptor-mediated pathways. Here, we examined the effects of GH using in vitro and in vivo assays of human immunodeficiency virus (HIV)-induced neuronal injury. Neuronal cultures were in assays of neurotoxicity induced by supernatants from HI...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10729
更新日期:2003-11-01 00:00:00
abstract::The effects on cerebral hemodynamics of venisection and a 4% albumin-saline infusion were studied in six patients with high hematocrit (mean, 51.5%). Cerebral blood flow (CBF) was measured using the xenon 133 intracarotid injection method. Blood gases were measured in arterial and jugular venous blood. Rapid two-stage...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090507
更新日期:1981-05-01 00:00:00
abstract::Oxidative damage to DNA may play a role in both normal aging and in neurodegenerative diseases. We examined whether Alzheimer's disease (AD) is associated with increased oxidative damage to nDNA and mtDNA in postmortem brain tissue. We measured the oxidized nucleoside, 8-hydroxy-2'-deoxyguanosine (OH8dG), in DNA isola...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360510
更新日期:1994-11-01 00:00:00
abstract::Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading fr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10675
更新日期:2003-09-01 00:00:00
abstract::Astrocytic necrosis is a prominent pathological feature of neuromyelitis optica (NMO) lesions and is clinically relevant. We report 5 NMO-related cases, all with longitudinally extensive lesions in the upper cervical cord, who underwent cervical cord (1) H-magnetic resonance spectroscopy. Lower myo-inositol/creatine v...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23909
更新日期:2013-08-01 00:00:00
abstract:OBJECTIVE:To design a new class of selective neuronal nitric oxide synthase (NOS) inhibitors, and demonstrate that administration in a rabbit model for cerebral palsy (CP) prevents hypoxia-ischemia-induced deaths and reduces the number of newborn kits exhibiting signs of CP. METHODS:We used a novel computer-based drug...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21555
更新日期:2009-02-01 00:00:00
abstract:OBJECTIVE:To understand how monosynaptic inputs onto adult-born dentate granule cells (DGCs) are altered in experimental mesial temporal lobe epilepsy (mTLE) and whether their integration differs from early-born DGCs that are mature at the time of epileptogenesis. METHODS:A dual-virus tracing strategy combining retrov...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24946
更新日期:2017-06-01 00:00:00