Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction.

abstract：:A 42-year-old homosexual man without evidence of immune deficiency developed cerebral granulomatous angiitis in association with the isolation of human T-lymphotropic virus type III (HTLV-III) from brain tissue and cerebrospinal fluid. This syndrome may be an additional neurological sequela of HTLV-III infection. ...

journal_title：Annals of neurology

authors： Yankner BA,Skolnik PR,Shoukimas GM,Gabuzda DH,Sobel RA,Ho DD

更新日期：1986-09-01 00:00:00

abstract：:Using placebo data from 3 randomized multiple sclerosis (MS) trials with uniform inclusion criteria, we investigated heterogeneity of Expanded Disability Status Scale (EDSS) progression by geographical areas. Our analysis revealed a significantly lower EDSS progression in Eastern European countries (10.8%) compared wi...

journal_title：Annals of neurology

authors： Bovis F,Signori A,Carmisciano L,Maietta I,Steinerman JR,Li T,Tansy AP,Sormani MP

更新日期：2018-10-01 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：:A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms,...

journal_title：Annals of neurology

authors： Luzi P,Rafi MA,Wenger DA

更新日期：1996-07-01 00:00:00

abstract：:A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-...

journal_title：Annals of neurology

authors： Meek D,Wolfe LS,Andermann E,Andermann F

更新日期：1984-04-01 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：: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：:Chronic progressive myelopathy (CPM) is a difficult clinical problem. Many patients who present with CPM turn out to have a spinal form of multiple sclerosis (MS), but until there is clear lesion dissemination, a definite clinical diagnosis cannot be made. We have looked for MS-related abnormalities in 72 patients wit...

journal_title：Annals of neurology

authors： Paty DW,Blume WT,Brown WF,Jaatoul N,Kertesz A,McInnis W

更新日期：1979-11-01 00:00:00

abstract：:Genomic triplication of the alpha-synuclein gene recently has been associated with familial Parkinson's disease in the Spellman-Muenter kindred. Here, we present an independent family, of Swedish-American descent, with hereditary early-onset parkinsonism with dementia due to alpha-synuclein triplication. Brain tissue ...

journal_title：Annals of neurology

authors： Farrer M,Kachergus J,Forno L,Lincoln S,Wang DS,Hulihan M,Maraganore D,Gwinn-Hardy K,Wszolek Z,Dickson D,Langston JW

更新日期：2004-02-01 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：OBJECTIVE:Neonatal white matter injury (NWMI) is a lesion found in preterm infants that can lead to cerebral palsy. Although antagonists of bone morphogenetic protein (BMP) signaling, such as Noggin, promote oligodendrocyte precursor cell (OPC) production after hypoxic-ischemic (HI) injury, the downstream functional ta...

journal_title：Annals of neurology

authors： Sabo JK,Heine V,Silbereis JC,Schirmer L,Levison SW,Rowitch DH

更新日期：2017-04-01 00:00:00

abstract：OBJECTIVE:To examine the functional neuroanatomy that could account for pure Gerstmann syndrome, which is the selective association of acalculia, finger agnosia, left-right disorientation, and agraphia. METHODS:We used structural and functional neuroimaging at high spatial resolution in healthy subjects to seek a shar...

journal_title：Annals of neurology

authors： Rusconi E,Pinel P,Eger E,LeBihan D,Thirion B,Dehaene S,Kleinschmidt A

更新日期：2009-11-01 00:00:00

abstract：:The worldwide epidemiology of Creutzfeldt-Jakob disease (CJD) is presented from an analysis of 1,435 patients. In the United States, the average annual mortality rate is at least 0.26 deaths per million. Temporal-spatial clustering of cases was not found in the United States, but reports from other countries indicate ...

journal_title：Annals of neurology

authors： Masters CL,Harris JO,Gajdusek DC,Gibbs CJ Jr,Bernoulli C,Asher DM

更新日期：1979-02-01 00:00:00

abstract：:In a prospective study, we repeatedly recorded fast goal-directed wrist movements of 8 patients who had experienced an acute cerebellar hypermetria due to a stroke and who had subsequently recovered clinically. Movements and the associated agonist and antagonist electromyographic (EMG) activities were recorded before ...

journal_title：Annals of neurology

authors： Manto M,Jacquy J,Hildebrand J,Godaux E

更新日期：1995-09-01 00:00:00

abstract：:A 50,000-dalton polypeptide has been purified from fractions enriched with neurofibrillary tangles of paired helical filaments from human autopsy specimens of Alzheimer disease and senile dementia of the Alzheimer type. An antiserum to this polypeptide was raised in a rabbit. This antiserum formed an immunoprecipitati...

journal_title：Annals of neurology

authors： Grundke-Iqbal I,Johnson AB,Terry RD,Wisniewski HM,Iqbal K

更新日期：1979-12-01 00:00:00

abstract：OBJECTIVE:Reducing levels of the microtubule-associated protein tau has shown promise as a potential treatment strategy for diseases with secondary epileptic features such as Alzheimer disease. We wanted to determine whether tau reduction may also be of benefit in intractable genetic epilepsies. METHODS:We studied a m...

journal_title：Annals of neurology

authors： Gheyara AL,Ponnusamy R,Djukic B,Craft RJ,Ho K,Guo W,Finucane MM,Sanchez PE,Mucke L

更新日期：2014-09-01 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：:We report on a 28-year-old man with long-standing intractable complex partial and secondary generalized seizures, whose magnetic resonance imaging scans 4 years apart documented progressive decrease in the left hippocampal volume. Left anterior temporal lobectomy with amygdalohippocampectomy rendered the patient seizu...

journal_title：Annals of neurology

authors： O'Brien TJ,So EL,Meyer FB,Parisi JE,Jack CR

更新日期：1999-04-01 00:00:00

abstract：:We describe a new cause of spinal cord ischemia illustrated by two cases--compression by the diaphragmatic crus of a lumbar artery giving rise to a spinal artery. The diagnosis has been established by dynamic spinal angiography, showing complete occlusion of the lumbar artery. Surgical section of the diaphragmatic cru...

journal_title：Annals of neurology

authors： Rogopoulos A,Benchimol D,Paquis P,Mahagne MH,Bourgeon A

更新日期：2000-08-01 00:00:00

abstract：:The activities of monoacylglycerol and diacylglycerol lipases were 6 to 8 times higher in plasma membrane and synaptosomal plasma membrane fractions of nucleus basalis from patients with Alzheimer's disease than in those membranes from normal human brains. Membranes from the hippocampus region of Alzheimer-affected br...

journal_title：Annals of neurology

authors： Farooqui AA,Liss L,Horrocks LA

更新日期：1988-03-01 00:00:00

abstract：:In this postmortem study, we investigated the relationship between multiple sclerosis (MS) lesions in the hypothalamus and the state of activity of corticotropin-releasing hormone (CRH)-producing neurons that control the hypothalamus-pituitary-adrenal (HPA) axis. A high incidence (15/16) of MS lesions was found in the...

journal_title：Annals of neurology

authors： Huitinga I,Erkut ZA,van Beurden D,Swaab DF

更新日期：2004-01-01 00:00:00

abstract：:We measured the activities of the enzymes responsible for the metabolism of the excitotoxin quinolinic acid, 3-hydroxyanthranilate oxygenase and quinolinic acid phosphoribosyltransferase, in autopsied brain of 11 patients with olivopontocerebellar atrophy. In cerebellar cortex, severe Purkinje cell loss was evident bu...

journal_title：Annals of neurology

authors： Kish SJ,Du F,Parks DA,Robitaille Y,Ball MJ,Schut L,Hornykiewicz O,Schwarcz R

更新日期：1991-01-01 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：: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：:The cervical nerves may play a significant role in primary headache disorders. We reviewed the patterns of pain evoked by stimulation of the first 3 cervical nerves (C1-C3) in 10 patients with chronic occipital pain, 6 of whom also had migraine. Stimulation at the C1 level evoked periorbital and frontal pain in 6 of 6...

journal_title：Annals of neurology

authors： Johnston MM,Jordan SE,Charles AC

更新日期：2013-07-01 00:00:00

abstract：OBJECTIVE:Myasthenia gravis (MG), a neuromuscular disease mediated by anti-acetylcholine receptor (AChR) autoantibodies, is associated with thymic hyperplasia characterized by ectopic germinal centers that contain pathogenic antibody-producing B cells. Our thymic transcriptome study demonstrated increased expression of...

journal_title：Annals of neurology

authors： Berrih-Aknin S,Ruhlmann N,Bismuth J,Cizeron-Clairac G,Zelman E,Shachar I,Dartevelle P,de Rosbo NK,Le Panse R

更新日期：2009-10-01 00:00:00

abstract：:Acute Epstein-Barr virus (EBV) infection of the central nervous system (CNS) is associated with meningoencephalitis and other neurological syndromes and with CNS lymphomas (CNSLs). Diagnosis is based on serological studies and more recently on detection of EBV DNA in cerebrospinal fluid (CSF) by polymerase chain react...

journal_title：Annals of neurology

authors： Weinberg A,Li S,Palmer M,Tyler KL

更新日期：2002-11-01 00:00:00

abstract：:Oxidative damage to DNA may play a role in both normal aging and in neurodegenerative diseases. We examined whether Alzheimer's disease (AD) is associated with increased oxidative damage to nDNA and mtDNA in postmortem brain tissue. We measured the oxidized nucleoside, 8-hydroxy-2'-deoxyguanosine (OH8dG), in DNA isola...

journal_title：Annals of neurology

authors： Mecocci P,MacGarvey U,Beal MF

更新日期：1994-11-01 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：:There are no established treatments for patients with acute, severe neurological deficits caused by multiple sclerosis or other inflammatory demyelinating diseases of the central nervous system who fail to recover after treatment with high-dose corticosteroids. We conducted a randomized, sham-controlled, double-masked...

journal_title：Annals of neurology

authors： Weinshenker BG,O'Brien PC,Petterson TM,Noseworthy JH,Lucchinetti CF,Dodick DW,Pineda AA,Stevens LN,Rodriguez M

更新日期：1999-12-01 00:00:00