Natural History of Adult Patients with GM2 Gangliosidosis.

abstract：:The site of autonomic deficit was investigated in 4 patients with loss of thermoregulatory flushing and sweating on one side of the face but no associated miosis (harlequin syndrome). In 2 patients the sudomotor deficit included the hand. Signs of postganglionic sympathetic deficit included pathological lacrimal sweat...

journal_title：Annals of neurology

authors： Drummond PD,Lance JW

更新日期：1993-12-01 00:00:00

abstract：:Persons affected with tuberous sclerosis complex (TSC) develop a wide range of neurological abnormalities including aberrant neuronal migration and seizures. In an effort to model TSC-associated central nervous system abnormalities in mice, we generated two independent lines of astrocyte-specific Tsc1 conditional knoc...

journal_title：Annals of neurology

authors： Uhlmann EJ,Wong M,Baldwin RL,Bajenaru ML,Onda H,Kwiatkowski DJ,Yamada K,Gutmann DH

更新日期：2002-09-01 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：OBJECTIVE:Huntington's disease (HD) is a monogenic, fully penetrant neurodegenerative disorder, providing an ideal model for understanding brain changes occurring in the years prior to disease onset. Diffusion tensor imaging (DTI) studies show widespread white matter disorganization in the early premanifest stages (pre...

journal_title：Annals of neurology

authors： Zhang J,Gregory S,Scahill RI,Durr A,Thomas DL,Lehericy S,Rees G,Tabrizi SJ,Zhang H,TrackOn-HD investigators.

更新日期：2018-10-01 00:00:00

abstract：OBJECTIVE:Wide interindividual variability exists in response to tissue plasminogen activator (t-PA) treatment in the acute phase of ischemic stroke. We aimed to find genetic variations associated with hemorrhagic transformation (HT) and mortality rates after t-PA. We then generated a clinical-genetic model for predict...

journal_title：Annals of neurology

authors： del Río-Espínola A,Fernández-Cadenas I,Giralt D,Quiroga A,Gutiérrez-Agulló M,Quintana M,Fernández-Álvarez P,Domingues-Montanari S,Mendióroz M,Delgado P,Turck N,Ruíz A,Ribó M,Castellanos M,Obach V,Martínez S,Freijo MM,Ji

更新日期：2012-11-01 00:00:00

abstract：:The ability to distinguish adaptive cortical reorganization may help to target future therapeutic strategies after neurological insult. We investigated cortical plasticity by prospectively applying visual functional magnetic resonance imaging (fMRI) and optic nerve MRI to 20 patients with acute optic neuritis at basel...

journal_title：Annals of neurology

authors： Toosy AT,Hickman SJ,Miszkiel KA,Jones SJ,Plant GT,Altmann DR,Barker GJ,Miller DH,Thompson AJ

更新日期：2005-05-01 00:00:00

abstract：:Understanding of the organization and function of a newly identified neuronal messenger molecule, nitric oxide, has progressed rapidly. Nitric oxide synthase has been purified and molecularly cloned from brain. Its localization is exclusively neuronal and endothelial. The catalytic activity of nitric oxide synthase ac...

journal_title：Annals of neurology

authors： Dawson TM,Dawson VL,Snyder SH

更新日期：1992-09-01 00:00:00

abstract：:Lead intoxication in rats reliably produces segmental demyelination. Following a single intravenous injection of radioactive lead, localization of tracer was observed sequentially by quantitative electron microscopical autoradiography. The animals injected had been on a lead-containing diet for 70 days; as a result, t...

journal_title：Annals of neurology

authors： Windebank AJ,Dyck PJ

更新日期：1985-08-01 00:00:00

abstract：:Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy. Using single-strand conformational polymorphism analysis and direct sequencing, a mutation within exon 3 of the gene encoding proteolipid protei...

journal_title：Annals of neurology

authors： Kaye EM,Doll RF,Natowicz MR,Smith FI

更新日期：1994-12-01 00:00:00

abstract：:Although genome-wide association studies (GWAS) have proven remarkably effective at identifying reliably associated genetic variants, the biology underlying these discoveries is rarely immediately apparent and in most cases seems bound to require extensive fine mapping and functional analysis before it is revealed. In...

journal_title：Annals of neurology

authors： Sawcer S,Wason J

更新日期：2012-10-01 00:00:00

abstract：:Systems for automatic assessment of cutaneous touch-pressure, vibratory, and thermal sensation have been developed. These systems use stimuli which are quantified and reproducible, a two-alternative forced-choice technique, and programmed steps to test, score, and report. If normal responses from series of healthy per...

journal_title：Annals of neurology

authors： Dyck PJ,Zimmerman IR,O'Brien PC,Ness A,Caskey PE,Karnes J,Bushek W

更新日期：1978-12-01 00:00:00

abstract：:The need for novel, efficacious, antiseizure therapies is widely acknowledged. This study investigates in humans the feasibility, safety, and efficacy of high-frequency electrical stimulation (HFES; 100-500 Hz) triggered by automated seizure detections. Eight patients were enrolled in this study, which consisted of a ...

journal_title：Annals of neurology

authors： Osorio I,Frei MG,Sunderam S,Giftakis J,Bhavaraju NC,Schaffner SF,Wilkinson SB

更新日期：2005-02-01 00:00:00

abstract：:A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Gale...

journal_title：Annals of neurology

authors： Waybright EA,Selhorst JB,Rosenblum WI,Suter CG

更新日期：1978-05-01 00:00:00

abstract：:We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian...

journal_title：Annals of neurology

authors： Valente EM,Salvi S,Ialongo T,Marongiu R,Elia AE,Caputo V,Romito L,Albanese A,Dallapiccola B,Bentivoglio AR

更新日期：2004-09-01 00:00:00

abstract：:Pallidopyramidal disease is a rare disease of young patients in which they manifest a parkinsonian syndrome and pyramidal signs. Pallidopyramidal disease has been attributed to a degeneration of the pallidum and the pyramidal tract, although only 1 patient has been studied postmortem. In the present report, [18F]fluor...

journal_title：Annals of neurology

authors： Remy P,Hosseini H,Degos JD,Samson Y,Agid Y,Warter JM,Vidailhet M

更新日期：1995-12-01 00:00:00

abstract：:Cerebrospinal fluid (CSF) lymphocytes from three young patients undergoing acute exacerbations of multiple sclerosis were studied by flow cytometry. Using a new method that simultaneously measures cell-surface antigens and the cell-cycle phase, we determined that the CSF lymphocytes in these patients were activated. T...

journal_title：Annals of neurology

authors： Noronha A,Richman DP,Arnason BG

更新日期：1985-12-01 00:00:00

abstract：:This report describes, for what may be only the second time, a ruptured miliary aneurysm within a cerebral hemorrhage. The report is unique in that the aneurysm has arisen at the site of a dissection within the wall of an arteriole at a site of fibrinoid necrosis. The case not only is a unique illustration of this pat...

journal_title：Annals of neurology

authors： Rosenblum WI

更新日期：2003-09-01 00:00:00

abstract：OBJECTIVE:To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. METHODS:We analyzed patients from five separate kindreds and characterized their periph...

journal_title：Annals of neurology

authors： Shy ME,Scavina MT,Clark A,Krajewski KM,Li J,Kamholz J,Kolodny E,Szigeti K,Fischer RA,Saifi GM,Scherer SS,Lupski JR

更新日期：2006-02-01 00:00:00

abstract：OBJECTIVE:To identify novel autoantibodies for neuropathic pain (NeP). METHODS:We screened autoantibodies that selectively bind to mouse unmyelinated C-fiber type dorsal root ganglion (DRG) neurons using tissue-based indirect immunofluorescence assays (IFA) with sera from 110 NeP patients with various inflammatory and...

journal_title：Annals of neurology

authors： Fujii T,Yamasaki R,Iinuma K,Tsuchimoto D,Hayashi Y,Saitoh BY,Matsushita T,Kido MA,Aishima S,Nakanishi H,Nakabeppu Y,Kira JI

更新日期：2018-08-01 00:00:00

abstract：:We report motor cortical function in the left occipital cortex of a subject who suffered a left middle cerebral artery stroke early in development. Transcranial magnetic stimulation of the left occipital cortex evoked contraction of right hand muscles. Electroencephalogram recorded over the left occipital cortex showe...

journal_title：Annals of neurology

authors： Basu A,Graziadio S,Smith M,Clowry GJ,Cioni G,Eyre JA

更新日期：2010-01-01 00:00:00

abstract：:Neuronal injury resulting from glutamate receptor-mediated excitotoxicity has been implicated in a wide spectrum of neurological disease states, including ischemia, central nervous system trauma, and some types of neurodegenerative diseases. Excitotoxicity may interact with other pathophysiological processes to enhanc...

journal_title：Annals of neurology

authors： Dugan LL,Choi DW

更新日期：1994-01-01 00:00:00

abstract：:Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of th...

journal_title：Annals of neurology

authors： Dionisi-Vici C,Ruitenbeek W,Fariello G,Bentlage H,Wanders RJ,Schägger H,Bosman C,Piantadosi C,Sabetta G,Bertini E

更新日期：1997-10-01 00:00:00

abstract：:Cognitive and extrapyramidal effects of cholinomimetic therapy were evaluated in 8 patients with progressive supranuclear palsy. Each was randomized to a 10-day double-blind crossover trial of physostigmine and placebo. Physostigmine treatment was associated with marginal and inconsistent changes in long-term memory, ...

journal_title：Annals of neurology

authors： Litvan I,Gomez C,Atack JR,Gillespie M,Kask AM,Mouradian MM,Chase TN

更新日期：1989-09-01 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：:Posterior choroidal artery (PChA) territory infarcts remain the least well-known type of thalamic infarcts. Our study of 10 personal cases, selected from 2,925 stroke patients admitted consecutively to a community-based primary care center, and 10 published cases of unilateral PChA territory infarct suggests that they...

journal_title：Annals of neurology

authors： Neau JP,Bogousslavsky J

更新日期：1996-06-01 00:00:00

abstract：OBJECTIVE:Determining if traumatic brain injury (TBI) and post-traumatic stress disorder (PTSD) are risk factors for Parkinson's disease (PD). This constitutes a research priority for the Veterans Administration (VA) with implications for screening policy and prevention. METHODS:Population-based, matched case-control ...

journal_title：Annals of neurology

authors： White DL,Kunik ME,Yu H,Lin HL,Richardson PA,Moore S,Sarwar AI,Marsh L,Jorge RE

更新日期：2020-07-01 00:00:00

abstract：:In healthy individuals, motor training elicits cortical plasticity that encodes the kinematic details of the practiced movements and is thought to underlie recovery of function after stroke. The influence of age on this form of plasticity is incompletely understood. We studied 55 healthy subjects and identified a subs...

journal_title：Annals of neurology

authors： Sawaki L,Yaseen Z,Kopylev L,Cohen LG

更新日期：2003-04-01 00:00:00

abstract：:Patients with senile dementia of the Alzheimer type frequently have difficulty performing visual tasks. These difficulties may be due, at least partially, to degenerative changes in both the primary visual pathway and the visual association areas. To determine whether retinal ganglion cell dysfunction contributes to v...

journal_title：Annals of neurology

authors： Trick GL,Barris MC,Bickler-Bluth M

更新日期：1989-08-01 00:00:00

abstract：:We describe 5 patients who presented with an acute cauda equina syndrome, which we believe was due to infarction of the conus medullaris. In 3 patients, the onset was spontaneous, and in 2 patients it was secondary to temporary occlusion of the distal aorta during medical manipulation. Pain in the buttocks and posteri...

journal_title：Annals of neurology

authors： Anderson NE,Willoughby EW

更新日期：1987-05-01 00:00:00

abstract：OBJECTIVE:Compared to older Caucasians, older African Americans have higher risks of developing Alzheimer disease (AD) and lower cerebrospinal fluid (CSF) tau biomarker levels. It is not known whether tau-related differences begin earlier in life or whether race modifies other AD-related biomarkers such as inflammatory...

journal_title：Annals of neurology

authors： Wharton W,Kollhoff AL,Gangishetti U,Verble DD,Upadhya S,Zetterberg H,Kumar V,Watts KD,Kippels AJ,Gearing M,Howell JC,Parker MW,Hu WT

更新日期：2019-09-01 00:00:00