Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia.

abstract：OBJECTIVE:Neuronal channelopathies cause brain disorders, including epilepsy, migraine, and ataxia. Despite the development of mouse models, pathophysiological mechanisms for these disorders remain uncertain. One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typically cause...

journal_title：Annals of neurology

authors： Liu Y,Lopez-Santiago LF,Yuan Y,Jones JM,Zhang H,O'Malley HA,Patino GA,O'Brien JE,Rusconi R,Gupta A,Thompson RC,Natowicz MR,Meisler MH,Isom LL,Parent JM

更新日期：2013-07-01 00:00:00

abstract：:We used spin-echo magnetic resonance imaging and proton magnetic resonance spectroscopic imaging in 8 patients with probable Alzheimer's disease and in 10 age-matched elderly control subjects to assess the effects of Alzheimer's disease on the brain. On magnetic resonance images the patients showed significant ventric...

journal_title：Annals of neurology

authors： Meyerhoff DJ,MacKay S,Constans JM,Norman D,Van Dyke C,Fein G,Weiner MW

更新日期：1994-07-01 00:00:00

abstract：:We measured neurotransmitter markers in autopsied brain of infants with glycine encephalopathy (GE). Because patients with GE develop intractable seizures, special attention was devoted to those neurotransmitter systems implicated in human epilepsy. Mean levels of glycine in the frontal cortex of GE patients were thre...

journal_title：Annals of neurology

authors： Kish SJ,Dixon LM,Burnham WM,Perry TL,Becker L,Cheng J,Chang LJ,Rebbetoy M

更新日期：1988-09-01 00:00:00

abstract：:We evaluated the role of positron emission tomography (PET) with [18F]deoxyglucose (FDG) (FDG-PET) for planning surgery in 53 patients who had temporal lobectomy for uncontrolled seizures at National Institutes of Health from 1981 to 1990. Investigators blinded to PET data used results of telemetered video-electroence...

journal_title：Annals of neurology

authors： Theodore WH,Sato S,Kufta C,Balish MB,Bromfield EB,Leiderman DB

更新日期：1992-12-01 00:00:00

abstract：OBJECTIVE:The dose-response effects of dysferlin transgenesis were analyzed to determine if the dysferlin-deficient myopathies are good candidates for gene replacement therapy. METHODS:We have generated 3 lines of transgenic mice, expressing low, mid, and high levels of full-length human dysferlin from a muscle-specif...

journal_title：Annals of neurology

authors： Glover LE,Newton K,Krishnan G,Bronson R,Boyle A,Krivickas LS,Brown RH Jr

更新日期：2010-03-01 00:00:00

abstract：:In Alzheimer's disease (AD), loss of cortical and hippocampal choline acetyltransferase (ChAT) activity has been correlated with dementia severity and disease duration, and it forms the basis for current therapies. However, the extent to which reductions in ChAT activity are associated with early cognitive decline has...

journal_title：Annals of neurology

authors： DeKosky ST,Ikonomovic MD,Styren SD,Beckett L,Wisniewski S,Bennett DA,Cochran EJ,Kordower JH,Mufson EJ

更新日期：2002-02-01 00:00:00

abstract：OBJECTIVE:Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and ...

journal_title：Annals of neurology

authors： Wilmshurst JM,Lillis S,Zhou H,Pillay K,Henderson H,Kress W,Müller CR,Ndondo A,Cloke V,Cullup T,Bertini E,Boennemann C,Straub V,Quinlivan R,Dowling JJ,Al-Sarraj S,Treves S,Abbs S,Manzur AY,Sewry CA,Muntoni F,Jung

更新日期：2010-11-01 00:00:00

abstract：:A prospective study of 162 patients with adult-onset chronic epilepsy revealed 4 in whom computed tomographic scanning was the only diagnostic test that detected the presence of a surgically correctable cerebral lesion. These patients had suffered from seizures for 1 to 14 years and at the time of operation demonstrat...

journal_title：Annals of neurology

authors： Jabbari B,Huott AD,Di Chiro G,Martins AN,Youngblood LA,Harper MG

更新日期：1980-04-01 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：OBJECTIVE:Chronic demyelination can result in axonopathy and is associated with human neurological conditions such as multiple sclerosis (MS) in adults and cerebral palsy in infants. In these disorders, myelin regeneration is inhibited by impaired differentiation of oligodendrocyte progenitors into myelin-producing oli...

journal_title：Annals of neurology

authors： Fancy SP,Glasgow SM,Finley M,Rowitch DH,Deneen B

更新日期：2012-08-01 00:00:00

abstract：:The pharmacokinetics of levodopa (L-dopa) in plasma and in cisternal and lumbar cerebrospinal fluid (CSF) were studied in Rhesus monkeys that were given 2- to 3-hour intravenous infusions of L-dopa. Steady-state L-dopa concentrations in cisternal CSF correlated well with plasma levels, and yielded a CSF:plasma ratio o...

journal_title：Annals of neurology

authors： Hammerstad JP,Woodward WR,Gliessman P,Boucher B,Nutt JG

更新日期：1990-05-01 00:00:00

abstract：:Saturated very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high-performance liquid chromatography. Ratios of C26:0 to...

journal_title：Annals of neurology

authors： Antoku Y,Koike F,Ohtsuka Y,Sakai T,Tsukamoto K,Nagara H,Iwashita H,Goto I

更新日期：1991-07-01 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:Recent studies carried out on amyotrophic lateral sclerosis patients suggest that the disease might initiate in the motor cortex and spread to its targets along the corticofugal tracts. In this study, we aimed to test the corticofugal hypothesis of amyotrophic lateral sclerosis experimentally. METHODS:Sod1G8...

journal_title：Annals of neurology

authors： Burg T,Bichara C,Scekic-Zahirovic J,Fischer M,Stuart-Lopez G,Brunet A,Lefebvre F,Cordero-Erausquin M,Rouaux C

更新日期：2020-10-01 00:00:00

abstract：:N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body...

journal_title：Annals of neurology

authors： Martin E,Capone A,Schneider J,Hennig J,Thiel T

更新日期：2001-04-01 00:00:00

abstract：:The role of mitochondrial DNA (mtDNA) mutations in the pathogenesis of Leber's hereditary optic neuropathy (LHON) has yet to be characterized. Several clinical features of the disease imply that nuclear genes might also be involved in its expression. We have confirmed the presence of a severe NADH:coenzyme Q1 reductas...

journal_title：Annals of neurology

authors： Cock HR,Tabrizi SJ,Cooper JM,Schapira AH

更新日期：1998-08-01 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：:An inverse relationship between the cerebrospinal fluid (CSF) opening pressure and the corresponding protein value was found for patients with idiopathic pseudotumor cerebri who underwent their first lumbar puncture (LP) prior to the initiation of therapy. This relationship provides evidence for a pressure-dependent b...

journal_title：Annals of neurology

authors： Chandra V,Bellur SN,Anderson RJ

更新日期：1986-01-01 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

authors： Ruitenberg A,den Heijer T,Bakker SL,van Swieten JC,Koudstaal PJ,Hofman A,Breteler MM

更新日期：2005-06-01 00:00:00

abstract：OBJECTIVE:To determine whether brain activation changes in clinically and neurocognitively normal human immunodeficiency virus (HIV)-infected and in HIV-seronegative control (SN) participants over a 1-year period. METHODS:Functional magnetic resonance imaging (fMRI) was performed in 32 SN and 31 HIV patients (all with...

journal_title：Annals of neurology

authors： Ernst T,Yakupov R,Nakama H,Crocket G,Cole M,Watters M,Ricardo-Dukelow ML,Chang L

更新日期：2009-03-01 00:00:00

abstract：:The topography and magnitude of increase in peripheral type benzodiazepine binding sites (omega 3 sites) was investigated autoradiographically in the brains of patients with ischemic cerebrovascular disease, with multiple sclerosis, and with malignant glioma. 3H-PK 11195, a selective omega 3 site ligand, was employed....

journal_title：Annals of neurology

authors： Benavides J,Cornu P,Dennis T,Dubois A,Hauw JJ,MacKenzie ET,Sazdovitch V,Scatton B

更新日期：1988-12-01 00:00:00

abstract：:The etiology of neurodegenerative diseases remains enigmatic; however, evidence for defects in energy metabolism, excitotoxicity, and for oxidative damage is increasingly compelling. It is likely that there is a complex interplay between these mechanisms. A defect in energy metabolism may lead to neuronal depolarizati...

journal_title：Annals of neurology

authors： Beal MF

更新日期：1995-09-01 00:00:00

abstract：:During passive extension of the elbow, the triceps muscle normally shows a burst of electromyographic activity. This shortening reaction (SR) is known to be exaggerated in extrapyramidal disease states, but the effects of cerebellar disease are unknown. The SR was measured in both arms of a patient with hemiataxia, th...

journal_title：Annals of neurology

authors： Angel RW

更新日期：1982-03-01 00:00:00

abstract：:Fresh brain weight, gestational age, body weight, sex, and race were collected from autopsy records of 782 newborns over a 10-year period. The brain weight of the mature newborn does not differ between males and females or between white and black infants. For the premature, however, brain weight is heavier in white ma...

journal_title：Annals of neurology

authors： Ho KC,Roessmann U,Hause L,Monroe G

更新日期：1981-09-01 00:00:00

abstract：OBJECTIVE:The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative diseases. They are caused by expanded CAG tracts, encoding glutamine, in different genes. Longer CAG repeat tracts are associated with earlier ages ...

journal_title：Annals of neurology

authors： Bettencourt C,Hensman-Moss D,Flower M,Wiethoff S,Brice A,Goizet C,Stevanin G,Koutsis G,Karadima G,Panas M,Yescas-Gómez P,García-Velázquez LE,Alonso-Vilatela ME,Lima M,Raposo M,Traynor B,Sweeney M,Wood N,Giunti P,SPA

更新日期：2016-06-01 00:00:00

abstract：OBJECTIVE:Degeneration of chronically demyelinated axons is a major cause of irreversible neurological decline in the human central nervous system disease, multiple sclerosis (MS). Although the molecular mechanisms responsible for this axonal degeneration remain to be elucidated, dysfunction of axonal Na+/K+ ATPase is ...

journal_title：Annals of neurology

authors： Young EA,Fowler CD,Kidd GJ,Chang A,Rudick R,Fisher E,Trapp BD

更新日期：2008-04-01 00:00:00

abstract：:Imaging of cerebrovascular beta-amyloid (cerebral amyloid angiopathy) is complicated by the nearly universal overlap of this pathology with Alzheimer's pathology. We performed positron emission tomographic imaging with Pittsburgh Compound B on 42-year-old man with early manifestations of Iowa-type hereditary cerebral ...

journal_title：Annals of neurology

authors： Greenberg SM,Grabowski T,Gurol ME,Skehan ME,Nandigam RN,Becker JA,Garcia-Alloza M,Prada C,Frosch MP,Rosand J,Viswanathan A,Smith EE,Johnson KA

更新日期：2008-11-01 00:00:00

abstract：OBJECTIVE:Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. METHODS:Patients eva...

journal_title：Annals of neurology

authors： Norcliffe-Kaufmann L,Kaufmann H,Palma JA,Shibao CA,Biaggioni I,Peltier AC,Singer W,Low PA,Goldstein DS,Gibbons CH,Freeman R,Robertson D,Autonomic Disorders Consortium.

更新日期：2018-03-01 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：: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

authors： Ristori G,Cannoni S,Stazi MA,Vanacore N,Cotichini R,Alfò M,Pugliatti M,Sotgiu S,Solaro C,Bomprezzi R,Di Giovanni S,Figà Talamanca L,Nisticò L,Fagnani C,Neale MC,Cascino I,Giorgi G,Battaglia MA,Buttinelli C,Tosi R,

更新日期：2006-01-01 00:00:00