Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA.

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

authors： Janve VS,Hernandez CC,Verdier KM,Hu N,Macdonald RL

更新日期：2016-05-01 00:00:00

abstract：:Pathological evidence suggests that alterations of the blood-brain barrier (BBB) may occur in association with human immunodeficiency virus (HIV) dementia (HIVD). Increased BBB permeability could contribute to the development of dementia by facilitating the entry of activated and infected monocytes, as well as potenti...

journal_title：Annals of neurology

authors： Conant K,McArthur JC,Griffin DE,Sjulson L,Wahl LM,Irani DN

更新日期：1999-09-01 00:00:00

abstract：:Paired-helical filaments (PHFs) are an important diagnostic criterion of the inclusion-body myositis (IBM) muscle biopsy; but, until now, their presence could be identified only by electronmicroscopy. In this report, we describe an easy immunocytochemical procedure, utilizing commercially available antibody, that enab...

journal_title：Annals of neurology

authors： Askanas V,Alvarez RB,Mirabella M,Engel WK

更新日期：1996-03-01 00:00:00

abstract：:We measured the intrinsic mechanical properties and protein content of single skinned muscle fibers obtained from patients who had Duchenne muscular dystrophy. To check for possible nonspecific changes caused by muscle disease per se, we also studied the properties of muscle fibers obtained from patients exhibiting se...

journal_title：Annals of neurology

authors： Horowits R,Dalakas MC,Podolsky RJ

更新日期：1990-06-01 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

authors： Fukuda T,Ewan L,Bauer M,Mattaliano RJ,Zaal K,Ralston E,Plotz PH,Raben N

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVE:Migraine with aura is a severe debilitating neurological disorder with few relatively specific therapeutic options. METHODS:We used amiloride, a blocker of epithelial sodium channels, to evaluate its pharmacological potential and explored the biology of a potential mechanism of action in well-established exp...

journal_title：Annals of neurology

authors： Holland PR,Akerman S,Andreou AP,Karsan N,Wemmie JA,Goadsby PJ

更新日期：2012-10-01 00:00:00

abstract：:Posterior choroidal artery (PChA) territory infarcts remain the least well-known type of thalamic infarcts. Our study of 10 personal cases, selected from 2,925 stroke patients admitted consecutively to a community-based primary care center, and 10 published cases of unilateral PChA territory infarct suggests that they...

journal_title：Annals of neurology

authors： Neau JP,Bogousslavsky J

更新日期：1996-06-01 00:00:00

abstract：:Although nerve conduction slowing is a well-accepted abnormality in rats with acute experimental diabetes, reports of neuropathological changes in diabetic rat nerves have been inconsistent. To examine this further, we studied electrophysiological and morphological features of posterior tibial nerves and their distal ...

journal_title：Annals of neurology

authors： Brown MJ,Sumner AJ,Greene DA,Diamond SM,Asbury AK

更新日期：1980-08-01 00:00:00

abstract：:Electroencephalographic (EEG) and evoked potential data were recorded during behavioral testing from 8 dyslexic and 10 normal boys aged 9 to 11 years. Topographic mapping of their brain electrical activity revealed four discrete regions of difference between the two groups involving both hemispheres, left more than ri...

journal_title：Annals of neurology

authors： Duffy FH,Denckla MB,Bartels PH,Sandini G

更新日期：1980-05-01 00:00:00

abstract：:Although genome-wide association studies (GWAS) have proven remarkably effective at identifying reliably associated genetic variants, the biology underlying these discoveries is rarely immediately apparent and in most cases seems bound to require extensive fine mapping and functional analysis before it is revealed. In...

journal_title：Annals of neurology

authors： Sawcer S,Wason J

更新日期：2012-10-01 00:00:00

abstract：:Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK ge...

journal_title：Annals of neurology

authors： Hsueh YP

更新日期：2009-10-01 00:00:00

abstract：:Brainstem auditory evoked responses (BAERs) were recorded from 202 patients with definite, probable, or possible multiple sclerosis (MS). Definitions of abnormality were based only on interwave separations and the wave I/wave V amplitude ratio. Thirty-two percent of the patients had abnormal BAERs, and the presence of...

journal_title：Annals of neurology

authors： Chiappa KH,Harrison JL,Brooks EB,Young RR

更新日期：1980-02-01 00:00:00

abstract：:The subtype IV of Machado-Joseph disease (MJD), characterized by parkinsonism variably combined with ataxia, distal atrophy, and sensory loss, has been all but ignored in recent reports of MJD, including those describing the molecular biologic substrate of the disease. We have demonstrated expansion of the CAG trinucl...

journal_title：Annals of neurology

authors： Tuite PJ,Rogaeva EA,St George-Hyslop PH,Lang AE

更新日期：1995-10-01 00:00:00

abstract：:Powerful new methods for imaging both brain anatomy and brain function are appearing at an increasing rate. The modern era of minimally invasive, highly informative, neurological diagnostic imaging methods began with the introduction of x-ray computed tomography in the 1970s. More recently, positron emission tomograph...

journal_title：Annals of neurology

authors： Prichard JW,Brass LM

更新日期：1992-09-01 00:00:00

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 sin...

journal_title：Annals of neurology

authors： Hand CK,Mayeux-Portas V,Khoris J,Briolotti V,Clavelou P,Camu W,Rouleau GA

更新日期：2001-02-01 00:00:00

abstract：OBJECTIVE:To evaluate the ability of mesenchymal stem cells (MSCs), a subset of adult stem cells from bone marrow, to cure experimental autoimmune encephalomyelitis. METHODS:The outcome of the injection of MSCs, in mice immunized with the peptide 139-151 of the proteolipid protein (PLP), was studied analyzing clinical...

journal_title：Annals of neurology

authors： Gerdoni E,Gallo B,Casazza S,Musio S,Bonanni I,Pedemonte E,Mantegazza R,Frassoni F,Mancardi G,Pedotti R,Uccelli A

更新日期：2007-03-01 00:00:00

abstract：:Auditory evoked magnetic fields to noise/square-wave sequences, presented once every 2.2 seconds, were recorded in 8 patients who had ischemic lesions in the auditory cortex or in its vicinity. In 2 patients with large temporoparietal lesions, the magnetic 100-msec deflection (N100m) was absent over the damaged side. ...

journal_title：Annals of neurology

authors： Mäkelä JP,Hari R,Valanne L,Ahonen A

更新日期：1991-07-01 00:00:00

abstract：OBJECTIVE:A workgroup commissioned by the Alzheimer's Association (AA) and the National Institute on Aging (NIA) recently published research criteria for preclinical Alzheimer disease (AD). We performed a preliminary assessment of these guidelines. METHODS:We employed Pittsburgh compound B positron emission tomography...

journal_title：Annals of neurology

authors： Jack CR Jr,Knopman DS,Weigand SD,Wiste HJ,Vemuri P,Lowe V,Kantarci K,Gunter JL,Senjem ML,Ivnik RJ,Roberts RO,Rocca WA,Boeve BF,Petersen RC

更新日期：2012-06-01 00:00:00

abstract：:We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes revealed complex I deficiency...

journal_title：Annals of neurology

authors： Andreu AL,Tanji K,Bruno C,Hadjigeorgiou GM,Sue CM,Jay C,Ohnishi T,Shanske S,Bonilla E,DiMauro S

更新日期：1999-06-01 00:00:00

abstract：:Patients with atrial fibrillation are at risk for cerebral embolism; however, the roles of chronic anticoagulation or antiplatelet therapy for stroke prevention in patients with nonvalvular atrial fibrillation have been controversial. Recently, the results of three large prospective randomized trials that examined the...

journal_title：Annals of neurology

authors： Albers GW,Sherman DG,Gress DR,Paulseth JE,Petersen P

更新日期：1991-10-01 00:00:00

abstract：:For unknown reasons, placebos reduce seizures in clinical trials in many patients. It is also unclear why some drugs showing statistical superiority to placebo in one trial may fail to do so in another. Using Seizuretracker.com, a patient-centered database of 684,825 seizures, we simulated "placebo" and "drug" trials....

journal_title：Annals of neurology

authors： Goldenholz DM,Moss R,Scott J,Auh S,Theodore WH

更新日期：2015-09-01 00:00:00

abstract：:The rate of local cerebral glucose utilization was determined for quantification of energy metabolism in macrostructures of the sensorimotor system during propagation of focal motor seizures in 24-month-old monkeys. The rate was measured in 4 control animals and in 4 monkeys each with seizures limited to the contralat...

journal_title：Annals of neurology

authors： Caveness WF,Kato M,Malamut BL,Hosokawa S,Wakisaka S,O'Neill RR

更新日期：1980-03-01 00:00:00

abstract：:Benign familial neonatal convulsions (BFNC) is a rare dominantly inherited epileptic syndrome characterized by frequent brief seizures within the first days of life. The disease is caused by mutations in one of two recently identified voltage-gated potassium channel genes, KCNQ2 or KCNQ3. Here, we describe a four-gene...

journal_title：Annals of neurology

authors： Lerche H,Biervert C,Alekov AK,Schleithoff L,Lindner M,Klinger W,Bretschneider F,Mitrovic N,Jurkat-Rott K,Bode H,Lehmann-Horn F,Steinlein OK

更新日期：1999-09-01 00:00:00

abstract：:Clinical evidence is presented to support the contention that the sternocleidomastoid muscle is innervated primarily by undecussated fibers from the ipsilateral hemisphere. Stroke patients often show contralateral hemiparesis accompanied by weakness in head turning to the side of the paresis. ...

journal_title：Annals of neurology

authors： Balagura S,Katz RG

更新日期：1980-01-01 00:00:00

abstract：:Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of th...

journal_title：Annals of neurology

authors： Dionisi-Vici C,Ruitenbeek W,Fariello G,Bentlage H,Wanders RJ,Schägger H,Bosman C,Piantadosi C,Sabetta G,Bertini E

更新日期：1997-10-01 00:00:00

abstract：:To identify those factors associated with cerebral hemorrhage among brains with cerebral amyloid angiopathy (CAA), we undertook a comparative postmortem histopathological study of amyloid-containing vessels in the brains of patients with and without hemorrhage. Those without hemorrhage were represented by the followin...

journal_title：Annals of neurology

authors： Vonsattel JP,Myers RH,Hedley-Whyte ET,Ropper AH,Bird ED,Richardson EP Jr

更新日期：1991-11-01 00:00:00

abstract：:We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM

更新日期：2001-11-01 00:00:00

abstract：:Infantile spasms are generalized seizures specific to early infancy, and are believed to result from complex cortical-subcortical interactions during a critical period of development. We used positron emission tomography (PET) to determine local cerebral metabolic rates for glucose (1CMRG1c) in 44 infants with spasms,...

journal_title：Annals of neurology

authors： Chugani HT,Shewmon DA,Sankar R,Chen BC,Phelps ME

更新日期：1992-02-01 00:00:00

abstract：:A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Gale...

journal_title：Annals of neurology

authors： Waybright EA,Selhorst JB,Rosenblum WI,Suter CG

更新日期：1978-05-01 00:00:00

abstract：OBJECTIVE:Lacunar strokes are a leading cause of cognitive impairment and vascular dementia. However, adequate characterization of cognitive impairment is lacking. The aim of this study was to estimate the prevalence and characterize the neuropsychological impairment in lacunar stroke patients. METHODS:All English-spe...

journal_title：Annals of neurology

authors： Jacova C,Pearce LA,Costello R,McClure LA,Holliday SL,Hart RG,Benavente OR

更新日期：2012-09-01 00:00:00