Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis.

abstract：:The pontine tegmentum contains the neurons responsible for generation of saccadic eye movements and certain phases of sleep. We studied two genetically unrelated patients with spinocerebellar degeneration and slow saccadic eye movements. Multiple all-night sleep studies in both patients disclosed absence of REM and st...

journal_title：Annals of neurology

authors： Osorio I,Daroff RB

更新日期：1980-03-01 00:00:00

abstract：OBJECTIVE:Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which m...

journal_title：Annals of neurology

authors： Joureau B,de Winter JM,Conijn S,Bogaards SJP,Kovacevic I,Kalganov A,Persson M,Lindqvist J,Stienen GJM,Irving TC,Ma W,Yuen M,Clarke NF,Rassier DE,Malfatti E,Romero NB,Beggs AH,Ottenheijm CAC

更新日期：2018-02-01 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

authors： Joachim CL,Morris JH,Selkoe DJ

更新日期：1988-07-01 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

authors： Guerrini R,De Lorey TM,Bonanni P,Moncla A,Dravet C,Suisse G,Livet MO,Bureau M,Malzac P,Genton P,Thomas P,Sartucci F,Simi P,Serratosa JM

更新日期：1996-07-01 00:00:00

abstract：:We studied patients with partial and primary generalized seizures using fluorine-18-labeled 2-fluorodeoxyglucose and positron emission tomography. Interictal studies of patients with partial seizures showed regions of focal or lateralized hypometabolism in 15 of 17 patients with unilateral electroencephalographic foci...

journal_title：Annals of neurology

authors： Theodore WH,Brooks R,Sato S,Patronas N,Margolin R,Di Chiro G,Porter RJ

更新日期：1984-01-01 00:00:00

abstract：:A sensitive enzyme-linked immunosorbent assay method was employed to measure interleukin-2 (IL-2) levels in cerebrospinal fluid (CSF) and sera from 30 patients with multiple sclerosis (MS) and 8 patients with other neurological diseases. Detectable levels of IL-2 were found in 6 sera and 9 CSF samples of 21 patients w...

journal_title：Annals of neurology

authors： Gallo P,Piccinno M,Pagni S,Tavolato B

更新日期：1988-12-01 00:00:00

abstract：OBJECTIVE:Ischemic injury of axons is a feature of periventricular leukomalacia, a pathological correlate of cerebral palsy. Recent evidence suggests that axons are damaged before they receive the first layer of compact myelin. Here we examine the cellular mechanisms underlying ischemic-type injury of premyelinated cen...

journal_title：Annals of neurology

authors： Alix JJ,Fern R

更新日期：2009-11-01 00:00:00

abstract：:Characteristic visual symptoms and signs in 12 patients with neoplasms or aneurysms involving the optic tract are summarized. Blurred vision was the most common initial manifestation. Optic atrophy became apparent in 7 of the 12 patients. Most patients had uniocular central scotomas with reduced visual acuity, and 2 h...

journal_title：Annals of neurology

authors： Bender MB,Bodis-Wollner I

更新日期：1978-03-01 00:00:00

abstract：:Hereditary canine spinal muscular atrophy (HCSMA) features rapidly progressive muscle weakness that affects muscles in an apparent proximal-to-distal gradient. In the medial gastrocnemius (MG) muscle of homozygous HCSMA animals, motor unit tetanic failure is apparent before the appearance of muscle weakness and appear...

journal_title：Annals of neurology

authors： Balice-Gordon RJ,Smith DB,Goldman J,Cork LC,Shirley A,Cope TC,Pinter MJ

更新日期：2000-05-01 00:00:00

abstract：OBJECTIVE:To identify brain regions, cell types, or both that generate abnormal electrical discharge in tuberous sclerosis complex (TSC). Here we examined excitatory and inhibitory synaptic currents in human tissue samples obtained from a TSC patient with no discernible cortical tubers and acute neocortical brain slice...

journal_title：Annals of neurology

authors： Wang Y,Greenwood JS,Calcagnotto ME,Kirsch HE,Barbaro NM,Baraban SC

更新日期：2007-02-01 00:00:00

abstract：:Paraneoplastic chorea is described in 16 patients: 11 with limited small-cell carcinoma, 2 with lung cancer revealed by imaging, 1 with renal cell carcinoma, and 1 with lymphoma. All had CRMP-5-IgG; 6 also had ANNA-1 (anti-Hu), including 1 without evident cancer. Chorea was the initial and most prominent symptom in 11...

journal_title：Annals of neurology

authors： Vernino S,Tuite P,Adler CH,Meschia JF,Boeve BF,Boasberg P,Parisi JE,Lennon VA

更新日期：2002-05-01 00:00:00

abstract：:Selective neuronal vulnerability is a key feature of the neuropathology of Huntington's disease. We used [3H]CP-55,940, a synthetic cannabinoid, to label cannabinoid receptors in tissue sections from individuals dying with Huntington's disease and from normal control subjects. The density of cannabinoid receptors in s...

journal_title：Annals of neurology

authors： Richfield EK,Herkenham M

更新日期：1994-10-01 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

authors： Gelman BB,Guinto FC Jr

更新日期：1992-07-01 00:00:00

abstract：OBJECTIVE:Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK w...

journal_title：Annals of neurology

authors： Mendell JR,Shilling C,Leslie ND,Flanigan KM,al-Dahhak R,Gastier-Foster J,Kneile K,Dunn DM,Duval B,Aoyagi A,Hamil C,Mahmoud M,Roush K,Bird L,Rankin C,Lilly H,Street N,Chandrasekar R,Weiss RB

更新日期：2012-03-01 00:00:00

abstract：:We describe the clinical and oculographic findings in 4 families with episodic ataxia and interictal nystagmus (EA-2) linked to chromosome 19p. Episodes varied from pure ataxia to combinations of symptoms suggesting involvement of the cerebellum, brainstem, and cortex. Some affected individuals exhibited a progressive...

journal_title：Annals of neurology

authors： Baloh RW,Yue Q,Furman JM,Nelson SF

更新日期：1997-01-01 00:00:00

abstract：:Emotional blunting can be found after cerebellar lesions. However, the mechanism of such a modification is not clear. We present a patient with emotional flattening and increased risk taking after left cerebellar infarct who had an impaired autonomic reactivity to negative as compared with positive reinforcement. This...

journal_title：Annals of neurology

authors： Annoni JM,Ptak R,Caldara-Schnetzer AS,Khateb A,Pollermann BZ

更新日期：2003-05-01 00:00:00

abstract：:Actin filaments in skin fibroblasts from patients with Huntington's disease (HD) were examined using immunofluorescent methods. Actin filaments were seen along the axis of cell elongation (stress or sheath filaments) as well as in areas of membrane ruffling (lattice filaments). In some cases, filaments appeared to rad...

journal_title：Annals of neurology

authors： Geary LE,Lazarides E,Goetz I,Roberts E

更新日期：1978-12-01 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：:Nineteen patients aged 4 to 44 years with generalized epilepsy and generalized 3 Hz spike-and-wave activity, were monitored for 24 or 36 hours on one to nine occasions to determine the time distribution of ictal and interictal electroencephalographic discharges and the consistency of the time patterns observed. Two pa...

journal_title：Annals of neurology

authors： Kellaway P,Frost JD Jr,Crawley JW

更新日期：1980-11-01 00:00:00

abstract：OBJECTIVE:Rapid reversal of the anticoagulatory effect of vitamin K antagonists represents the primary emergency treatment for oral anticoagulant-related intracerebral hemorrhage (OAC-ICH). Predicting the amount of prothrombin complex concentrate (PCC) needed to reverse OAC in individual patients is difficult, and repe...

journal_title：Annals of neurology

authors： Rizos T,Jenetzky E,Herweh C,Hug A,Hacke W,Steiner T,Veltkamp R

更新日期：2010-06-01 00:00:00

abstract：OBJECTIVE:Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits. ME...

journal_title：Annals of neurology

authors： Chao CC,Hsueh HW,Kan HW,Liao CH,Jiang HH,Chiang H,Lin WM,Yeh TY,Lin YH,Cheng YY,Hsieh ST

更新日期：2019-04-01 00:00:00

abstract：OBJECTIVE:Whether intracerebral hemorrhage (ICH) associated with non-vitamin K antagonist oral anticoagulants (NOAC-ICH) has a better outcome compared to ICH associated with vitamin K antagonists (VKA-ICH) is uncertain. METHODS:We performed a systematic review and individual patient data meta-analysis of cohort studie...

journal_title：Annals of neurology

authors： Tsivgoulis G,Wilson D,Katsanos AH,Sargento-Freitas J,Marques-Matos C,Azevedo E,Adachi T,von der Brelie C,Aizawa Y,Abe H,Tomita H,Okumura K,Hagii J,Seiffge DJ,Lioutas VA,Traenka C,Varelas P,Basir G,Krogias C,Purrucke

更新日期：2018-11-01 00:00:00

abstract：:Results of intensive prevalence surveys on multiple sclerosis carried out in different small regions of Italy have suggested that this country falls into the high-frequency zone for the disease. To verify this hypothesis by studying a large population, we conducted intensive incidence and prevalence survey in the prov...

journal_title：Annals of neurology

authors： Granieri E,Tola R,Paolino E,Rosati G,Carreras M,Monetti VC

更新日期：1985-01-01 00:00:00

abstract：:Six polypeptides resolved by two-dimensional electrophoresis of homogenates from human skeletal muscle have been identified as tropomyosin by electrophoretic and immunochemical methods. The 6 proteins are consistently present in approximately the same abundance in normal biceps, deltoid, gastrocnemius, and quadriceps ...

journal_title：Annals of neurology

authors： Giometti CS,Danon MJ

更新日期：1985-08-01 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：:In CAG repeat diseases, affected neurons possess many cytoplasmic granules immunopositive for expanded polyglutamine stretches. Electron microscopic immunohistochemistry showed that the granules corresponded to lysosomes of primitive type. The results suggest that, in addition to the ubiquitin/proteasome pathway, muta...

journal_title：Annals of neurology

authors： Yamada M,Tsuji S,Takahashi H

更新日期：2002-10-01 00:00:00

abstract：:A 30-year-old male drug abuser developed ophthalmoplegia, bulbar paralysis, and limb weakness responsive to edrophonium. However, potentiation of a low-amplitude evoked muscle action potential was produced with repetitive nerve stimulation at 10 Hz, and the clinical and electrophysiological data suggested the diagnosi...

journal_title：Annals of neurology

authors： Rapoport S,Watkins PB

更新日期：1984-09-01 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

authors： Wolozin B,Davies P

更新日期：1987-10-01 00:00:00

abstract：OBJECTIVE:Migraine aura is sparsely studied due to the highly challenging task of capturing patients during aura. Cortical spreading depression (CSD) is likely the underlying phenomenon of aura. The possible correlation between the multifaceted phenomenology of aura symptoms and the effects of CSD on the brain has not ...

journal_title：Annals of neurology

authors： Arngrim N,Hougaard A,Ahmadi K,Vestergaard MB,Schytz HW,Amin FM,Larsson HBW,Olesen J,Hoffmann MB,Ashina M

更新日期：2017-12-01 00:00:00

abstract：:The factors contributing to selective motoneuron loss in amyotrophic lateral sclerosis (ALS) remain undefined. To investigate whether calcium-binding proteins contribute to selective motoneuron vulnerability in ALS, we compared calbindin-D28K and parvalbumin immunoreactivity in motoneuron populations in human ALS, and...

journal_title：Annals of neurology

authors： Alexianu ME,Ho BK,Mohamed AH,La Bella V,Smith RG,Appel SH

更新日期：1994-12-01 00:00:00