Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.

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：:Fuel utilization in two adult patients with the myopathic form of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and five healthy subjects was investigated with stable isotopes during exercise at 50% of VO2max. The findings indicate that residual VLCAD activity in the patients is sufficient to maintain norm...

journal_title：Annals of neurology

authors： ØRngreen MC,Nørgaard MG,Sacchetti M,van Engelen BG,Vissing J

更新日期：2004-08-01 00:00:00

abstract：:The cause of the selective degeneration of motor neurons in amyotrophic lateral sclerosis (ALS) remains unexplained. One potential pathogenetic mechanism is chronic toxicity due to disturbances of the glutamatergic neurotransmitter system, mediated via alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-s...

journal_title：Annals of neurology

authors： Williams TL,Day NC,Ince PG,Kamboj RK,Shaw PJ

更新日期：1997-08-01 00:00:00

abstract：:We compared the accuracy of saccades made to seen or remembered visual targets in 3 patients with saccadic dysmetria due to cerebellar lesions. Saccadic dysmetria was worse for saccades to remembered targets and for saccades to flashed targets visible for only 150 msec (i.e., invisible at the time of saccade). Further...

journal_title：Annals of neurology

authors： Gaymard B,Rivaud S,Amarenco P,Pierrot-Deseilligny C

更新日期：1994-01-01 00:00:00

abstract：:Effective surgical treatment of patients with intractable complex partial seizures depends on accurate preoperative seizure focus localization. We evaluated seizure localization with interictal and immediate postictal single photon emission computed tomographic images of cerebral perfusion using technetium-99m-hexamet...

journal_title：Annals of neurology

authors： Rowe CC,Berkovic SF,Sia ST,Austin M,McKay WJ,Kalnins RM,Bladin PF

更新日期：1989-11-01 00:00:00

abstract：:A 45-year-old woman was diagnosed as having the unclassified form of botulism. Her intestines may have been predisposed to colonization with Clostridium botulinum because of a jejunoileal bypass procedure that had been done several years earlier. One other similar case has been reported. ...

journal_title：Annals of neurology

authors： Freedman M,Armstrong RM,Killian JM,Boland D

更新日期：1986-11-01 00:00:00

abstract：OBJECTIVE:Central nervous system pathology in multiple sclerosis includes both focal inflammatory perivascular injury and injury to superficial structures, including the subpial region of the cortex, which reportedly exhibits a gradient of damage from the surface inward. We assessed how early in the multiple sclerosis ...

journal_title：Annals of neurology

authors： Fadda G,Brown RA,Magliozzi R,Aubert-Broche B,O'Mahony J,Shinohara RT,Banwell B,Marrie RA,Yeh EA,Collins DL,Arnold DL,Bar-Or A,Canadian Pediatric Demyelinating Disease Network.

更新日期：2019-03-01 00:00:00

abstract：:Units linked to stimulation of the superior sagittal sinus were identified and recorded from in the trigeminocervical complex of the anesthetized cat. Iontophoresis of glutamate NMDA receptor agonists increased the baseline-firing rate of these neurons. Coejection of sumatriptan, 4991W93, or ergometrine resulted in a ...

journal_title：Annals of neurology

authors： Goadsby PJ,Akerman S,Storer RJ

更新日期：2001-12-01 00:00:00

abstract：OBJECTIVE:Pituitary dysfunction is a recognized consequence of traumatic brain injury (TBI) that causes cognitive, psychological, and metabolic impairment. Hormone replacement offers a therapeutic opportunity. Blast TBI (bTBI) from improvised explosive devices is commonly seen in soldiers returning from recent conflict...

journal_title：Annals of neurology

authors： Baxter D,Sharp DJ,Feeney C,Papadopoulou D,Ham TE,Jilka S,Hellyer PJ,Patel MC,Bennett AN,Mistlin A,McGilloway E,Midwinter M,Goldstone AP

更新日期：2013-10-01 00:00:00

abstract：:From a population-based sample of 15,504 patients attending Canadian multiple sclerosis (MS) clinics, we have determined the frequency of conjugal MS and have estimated the recurrence risk in offspring of such matings. Twenty-three MS cases were found among 13,550 spouses of study probands for a crude conjugal rate of...

journal_title：Annals of neurology

authors： Ebers GC,Yee IM,Sadovnick AD,Duquette P

更新日期：2000-12-01 00:00:00

abstract：:Stereotaxic injection of kainic acid into rat striatum produces neuronal degeneration and neurochemical alterations resembling Huntington's disease (HD). Since correction of the deficiency in gamma-aminobutyric acid (GABA) in HD may be of therapeutic value, the efficacy of drugs that inhibit the GABA-degrading enzyme ...

journal_title：Annals of neurology

authors： Schwarcz R,Bennett JP Jr,Coyle JT

更新日期：1977-10-01 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：:We investigated a family with a new type of autosomal dominant cerebellar ataxia (ADCA) in which pure cerebellar ataxia is often accompanied with epilepsy. No CAG repeat expansions were detected at the spinocerebellar ataxia (SCA) type 1, 2, 3, 6, or 7 locus, and SCAs 4 and 5 were excluded by linkage analysis. We foun...

journal_title：Annals of neurology

authors： Matsuura T,Achari M,Khajavi M,Bachinski LL,Zoghbi HY,Ashizawa T

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVE:A study was undertaken to establish an enzyme-linked immunosorbent assay (ELISA) to detect JC virus (JCV)-specific antibodies in multiple sclerosis (MS) patients, and to evaluate its potential utility for identifying patients at higher or lower risk (ie, risk stratification) of developing progressive multifoc...

journal_title：Annals of neurology

authors： Gorelik L,Lerner M,Bixler S,Crossman M,Schlain B,Simon K,Pace A,Cheung A,Chen LL,Berman M,Zein F,Wilson E,Yednock T,Sandrock A,Goelz SE,Subramanyam M

更新日期：2010-09-01 00:00:00

abstract：:To explore the concept that dystonia may result from dysfunction of the sensory system, 14 patients with focal hand dystonia were tested during two somatosensory discrimination tasks. Compared with controls, patients had a higher threshold in a task involving discrimination of two electric stimuli closely related temp...

journal_title：Annals of neurology

authors： Bara-Jimenez W,Shelton P,Sanger TD,Hallett M

更新日期：2000-03-01 00:00:00

abstract：OBJECTIVE:Deletions of CACNA1A, encoding the α1 subunit of CaV 2.1 channels, cause epilepsy with ataxia in humans. Whereas the deletion of Cacna1a in γ-aminobutyric acidergic (GABAergic) interneurons (INs) derived from the medial ganglionic eminence (MGE) impairs cortical inhibition and causes generalized seizures in N...

journal_title：Annals of neurology

authors： Jiang X,Lupien-Meilleur A,Tazerart S,Lachance M,Samarova E,Araya R,Lacaille JC,Rossignol E

更新日期：2018-09-01 00:00:00

abstract：OBJECTIVES:African Americans are at greater risk for developing Alzheimer's disease (AD) dementia than non-Hispanic whites. In addition to biological considerations (eg, genetic influences and comorbid disorders), social and environmental factors may increase the risk of AD dementia. This paper (1) assesses neuroimagin...

journal_title：Annals of neurology

authors： Meeker KL,Wisch JK,Hudson D,Coble D,Xiong C,Babulal GM,Gordon BA,Schindler SE,Cruchaga C,Flores S,Dincer A,Benzinger TL,Morris JC,Ances BM

更新日期：2021-02-01 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：:Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n...

journal_title：Annals of neurology

authors： Smelt AH,Poorthuis BJ,Onkenhout W,Scholte HR,Andresen BS,van Duinen SG,Gregersen N,Wintzen AR

更新日期：1998-04-01 00:00:00

abstract：:Nine patients who had suffered strokes were examined between 10 and 34 days after onset using positron emission tomography. DMO labeled with carbon 11 was used to evaluate brain acid-base balance, and the oxygen-15 inhalation technique was used to measure regional cerebral blood flow, the oxygen extraction fraction, a...

journal_title：Annals of neurology

authors： Syrota A,Castaing M,Rougemont D,Berridge M,Baron JC,Bousser MG,Pocidalo JJ

更新日期：1983-10-01 00:00:00

abstract：:Epileptic patients experienced an irreversible loss of their peripheral visual field upon treatment with vigabatrin (gamma-vinyl GABA), an inhibitor of the GABA degrading enzyme, GABA transaminase. Subsequently, central visual function was reported to also be irreversibly altered. This visual loss is associated with a...

journal_title：Annals of neurology

authors： Duboc A,Hanoteau N,Simonutti M,Rudolf G,Nehlig A,Sahel JA,Picaud S

更新日期：2004-05-01 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：: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：: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:The study was undertaken to determine whether normobaric hypoxia causes elevated brain volume and intracranial pressure in individuals with symptoms consistent with acute mountain sickness (AMS). METHODS:Thirteen males age = (26 (sd 6)) years were exposed to normobaric hypoxia (12% O2 ) and normoxia (21% O2 ...

journal_title：Annals of neurology

authors： Lawley JS,Alperin N,Bagci AM,Lee SH,Mullins PG,Oliver SJ,Macdonald JH

更新日期：2014-06-01 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：OBJECTIVE:What mechanisms underlie the loss and recovery of consciousness after severe brain injury? We sought to establish, in the largest cohort of patients with disorders of consciousness (DOC) to date, the link between gold standard clinical measures of awareness and wakefulness, and specific patterns of local brai...

journal_title：Annals of neurology

authors： Lutkenhoff ES,Chiang J,Tshibanda L,Kamau E,Kirsch M,Pickard JD,Laureys S,Owen AM,Monti MM

更新日期：2015-07-01 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：:Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...

journal_title：Annals of neurology

authors： Lossos A,Meiner Z,Barash V,Soffer D,Schlesinger I,Abramsky O,Argov Z,Shpitzen S,Meiner V

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVE:Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutation...

journal_title：Annals of neurology

authors： Carelli V,Musumeci O,Caporali L,Zanna C,La Morgia C,Del Dotto V,Porcelli AM,Rugolo M,Valentino ML,Iommarini L,Maresca A,Barboni P,Carbonelli M,Trombetta C,Valente EM,Patergnani S,Giorgi C,Pinton P,Rizzo G,Tonon C,

更新日期：2015-07-01 00:00:00