Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.

abstract：:There is currently no effective pharmacological treatment for amyotrophic lateral sclerosis (ALS). Because evidence suggests that multiple pathways may contribute to ALS pathogenesis, we tested in a mouse model of ALS (SOD1(G37R) mice) a combination approach consisting of three drugs for distinct targets in the comple...

journal_title：Annals of neurology

authors： Kriz J,Gowing G,Julien JP

更新日期：2003-04-01 00:00:00

abstract：:A nested polymerase chain reaction was used for the detection of Epstein-Barr virus DNA in 1 patient with encephalitis, and in 1 patient with myelitis. Epstein-Barr virus DNA was detected in cerebrospinal fluid samples obtained at the onset of neurological symptoms in both patients, and serological findings indicated ...

journal_title：Annals of neurology

authors： Landgren M,Kyllerman M,Bergström T,Dotevall L,Ljungström L,Ricksten A

更新日期：1994-05-01 00:00:00

abstract：OBJECTIVE:Intracellular amyloid β-protein (Aβ) contributes to neurodegeneration in Alzheimer disease (AD). Apomorphine (APO) is a dopamine receptor agonist for Parkinson disease and also protects against oxidative stress. Efficacy of APO for an AD mouse model and effects of APO on cell cultures are studied. METHODS:Th...

journal_title：Annals of neurology

authors： Himeno E,Ohyagi Y,Ma L,Nakamura N,Miyoshi K,Sakae N,Motomura K,Soejima N,Yamasaki R,Hashimoto T,Tabira T,LaFerla FM,Kira J

更新日期：2011-02-01 00:00:00

abstract：OBJECTIVE:Amyotrophic lateral sclerosis/parkinsonism-dementia complex has been described in Guam, Western Papua, and the Kii Peninsula of Japan. The etiology and pathogenesis of this complex neurodegenerative disease remains enigmatic. METHODS:In this study, we have used targeted genomic sequencing to evaluate the con...

journal_title：Annals of neurology

authors： Steele JC,Guella I,Szu-Tu C,Lin MK,Thompson C,Evans DM,Sherman HE,Vilariño-Güell C,Gwinn K,Morris H,Dickson DW,Farrer MJ

更新日期：2015-03-01 00:00:00

abstract：:Most clinically demented elderly patients are found at autopsy to have Alzheimer's disease, multi-infarct dementia, Parkinson's disease, Pick's disease, or Creutzfeldt-Jakob disease. We studied 5 patients clinically characterized by late onset dementia whose brains showed no pathological evidence of Alzheimer's diseas...

journal_title：Annals of neurology

authors： Masliah E,Hansen LA,Quijada S,DeTeresa R,Alford M,Kauss J,Terry R

更新日期：1991-04-01 00:00:00

abstract：:A 71-year-old woman presented with a short history of episodes of severe left-sided orbital and temporal pain in paroxysms lasting 60 to 90 seconds, and accompanied by ipsilateral lacrimation of the eye, rhinorrhea, and conjunctival injection. Results of clinical examination and structural imaging were normal and a cl...

journal_title：Annals of neurology

authors： May A,Bahra A,Büchel C,Turner R,Goadsby PJ

更新日期：1999-11-01 00:00:00

abstract：:To understand the pathogenesis of human immunodeficiency virus-induced neuropathology, it is critical to know the dynamics of viral replication in the central nervous system. Viral decay kinetics were mathematically analyzed from multiple serial specimens of ventricular cerebrospinal fluid and plasma during antiretrov...

journal_title：Annals of neurology

authors： Eggers C,Stuerenburg HJ,Schafft T,Zöllner B,Feucht HH,Stellbrink HJ,van Lunzen J

更新日期：2000-06-01 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：: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

authors： Maker HS,Weiss C,Weissbarth S,Silides DJ,Whetsell W

更新日期：1981-10-01 00:00:00

abstract：:A brief description is given of neurofibrillary changes of the paired helical filament type in a variety of chronic neurological diseases. These include subacute sclerosing panencephalitis, lead encephalopathy, tuberous sclerosis, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis. In these conditions, with...

journal_title：Annals of neurology

authors： Wisniewski K,Jervis GA,Moretz RC,Wisniewski HM

更新日期：1979-03-01 00:00:00

abstract：:To elucidate the role of D-serine in human central nervous system, we analyzed D-serine, L-serine, and glycine concentrations in cerebrospinal fluid of healthy children and children with a defective L-serine biosynthesis (3-phosphoglycerate dehydrogenase deficiency). Healthy children showed high D-serine concentration...

journal_title：Annals of neurology

authors： Fuchs SA,Dorland L,de Sain-van der Velden MG,Hendriks M,Klomp LW,Berger R,de Koning TJ

更新日期：2006-10-01 00:00:00

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 conside...

journal_title：Annals of neurology

authors： Wenning GK,Stefanova N,Jellinger KA,Poewe W,Schlossmacher MG

更新日期：2008-09-01 00:00:00

abstract：OBJECTIVE:The aim of the study was to evaluate whether the visual analysis of muscle magnetic resonance imaging scans can identify specific patterns of muscle involvement. METHODS:We assessed scans from 83 patients with muscle disorders characterized by rigidity of the spine secondary to mutations in 4 different genes...

journal_title：Annals of neurology

authors： Mercuri E,Clements E,Offiah A,Pichiecchio A,Vasco G,Bianco F,Berardinelli A,Manzur A,Pane M,Messina S,Gualandi F,Ricci E,Rutherford M,Muntoni F

更新日期：2010-02-01 00:00:00

abstract：:An artificial system is described in which anti-dinitrophenyl (DNP) antibody attaches to hapten-conjugated human brain tissue. Treatment of this material with acetic acid at pH 2.5 to 3.0 for 90 seconds followed by immediate neutralization results in dissociation of antibody from the hapten-conjugated brain. Less than...

journal_title：Annals of neurology

authors： Gilden D,Devlin M,Wroblewska Z

更新日期：1978-05-01 00:00:00

abstract：:Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low ...

journal_title：Annals of neurology

authors： Arnold DL,Silver K,Andermann F

更新日期：1993-06-01 00:00:00

abstract：:Adult GM2 gangliosidosis is a rare disorder that often presents with both neurological and psychiatric syndromes. Effective treatment of the psychotic and affective symptoms associated with this disorder has been complicated by poor treatment response and the concern that many psychotropic agents may worsen the underl...

journal_title：Annals of neurology

authors： Renshaw PF,Stern TA,Welch C,Schouten R,Kolodny EH

更新日期：1992-03-01 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

authors： Wenning GK,Odin P,Morrish P,Rehncrona S,Widner H,Brundin P,Rothwell JC,Brown R,Gustavii B,Hagell P,Jahanshahi M,Sawle G,Björklund A,Brooks DJ,Marsden CD,Quinn NP,Lindvall O

更新日期：1997-07-01 00:00:00

abstract：:We report the clinical features of 12 patients with drop attacks associated with Meniere's syndrome. Each described a sensation of being pushed, thrown, or knocked to the ground or a sudden illusion of movement of the environment that led to a fall. These episodes were not accompanied by symptoms of their typical atta...

journal_title：Annals of neurology

authors： Baloh RW,Jacobson K,Winder T

更新日期：1990-09-01 00:00:00

abstract：:We report on a 12-year-old girl with a severe subacute to chronic bifrontal leukoencephalopathy. By clinical, biochemical, radiological, and neuropathological criteria, a diagnosis of inflammatory myelinoclastic diffuse sclerosis was reached. This is the third fully documented case. ...

journal_title：Annals of neurology

authors： Mehler MF,Rabinowich L

更新日期：1988-04-01 00:00:00

abstract：:The effect of focal ischemia on tissue pH was studied at various times up to 6 hours after permanent middle cerebral artery occlusion in rats. Tissue pH was imaged by using umbelliferone fluorescence and correlated with cerebral blood flow, ATP content, and recordings of the steady potential. Circumscribed foci of all...

journal_title：Annals of neurology

authors： Back T,Hoehn M,Mies G,Busch E,Schmitz B,Kohno K,Hossmann KA

更新日期：2000-04-01 00:00:00

abstract：:Prevalence and titer of total, free, and bound cerebrospinal fluid anti-myelin basic protein (MBP) antibodies as well as free/bound ratios were determined in four groups of patients with multiple sclerosis (MS) and three groups of controls. All patients with clinically active MS have elevated levels of total anti-MBP,...

journal_title：Annals of neurology

authors： Warren KG,Catz I

更新日期：1986-07-01 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：:The mechanism whereby dystrophin deficiency leads to excessive fibrosis and muscle degeneration is not known. The absence of dystrophin in skeletal muscle is associated with reduced plasma membrane stability as evidenced by elevated serum levels of the cytoplasmic enzyme creatine kinase. Basic fibroblast growth factor...

journal_title：Annals of neurology

authors： D'Amore PA,Brown RH Jr,Ku PT,Hoffman EP,Watanabe H,Arahata K,Ishihara T,Folkman J

更新日期：1994-03-01 00:00:00

abstract：:We performed a population-based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04-2.14), and the number of individuals who either had SCA6 or are at risk of developing SC...

journal_title：Annals of neurology

authors： Craig K,Keers SM,Archibald K,Curtis A,Chinnery PF

更新日期：2004-05-01 00:00:00

abstract：:It is well recognized that plasma fluctuations resulting from oral levodopa therapy may cause an unstable clinical response in parkinsonian patients. We have therefore developed a slow-release polymer matrix system that can deliver levodopa continuously for extended periods of time (at least 225 days) after subcutaneo...

journal_title：Annals of neurology

authors： Sabel BA,Dominiak P,Hüaser W,During MJ,Freese A

更新日期：1990-11-01 00:00:00

abstract：:Solitary neoplastic proliferation of plasma cells (plasmacytoma) rarely occurs in the central nervous system. The longest follow-Up in nine previously reported patients was 5 years. We have followed two patients with solitary intracranial plasmacytoma for 8 and 13 years, respectively. At the time of biopsy diagnosis, ...

journal_title：Annals of neurology

authors： Krumholz A,Weiss HD,Jiji VH,Bakal D,Kirsh MB

更新日期：1982-05-01 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

authors： McNaught KS,Olanow CW

更新日期：2003-01-01 00:00:00

abstract：:The causes of amyotrophic lateral sclerosis, Parkinson disease, and Alzheimer disease are unknown. Furthermore, treatment for two of these conditions is almost totally lacking. The thesis is presented that each of these disorders is due to lack of a disorder-specific neurotrophic hormone. The hormone would be elaborat...

journal_title：Annals of neurology

authors： Appel SH

更新日期：1981-12-01 00:00:00

abstract：:Four guanidino compounds that have been found to be markedly increased in cerebrospinal fluid and brain tissue of uremic patients, namely, guanidine, methylguanidine, creatinine, and guanidinosuccinic acid, were applied to mouse spinal cord neurons in primary dissociated cell culture to evaluate their effects on posts...

journal_title：Annals of neurology

authors： De Deyn PP,Macdonald RL

更新日期：1990-11-01 00:00:00

abstract：:Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...

journal_title：Annals of neurology

authors： Becher MW,Kotzuk JA,Davis LE,Bear DG

更新日期：2000-11-01 00:00:00