Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.

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：: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：:Subcutaneous application of interferon-beta1b (IFN-beta1b) is an established therapy for patients with relapsing-remitting multiple sclerosis (RRMS), but early side effects are still a major concern. In vitro studies with myelin basic protein (MBP)-specific T-cell lines revealed a synergistic suppressive effect of IFN...

journal_title：Annals of neurology

authors： Weber F,Polak T,Günther A,Kubuschok B,Janovskaja J,Bitsch A,Poser S,Rieckmann P

更新日期：1998-07-01 00:00:00

abstract：:A 51-year-old diabetic woman developed bilateral rhinoorbitocerebral phycomycosis. Successful treatment was accomplished by correction of the ketoacidosis, surgical debridement, and amphotericin B therapy. Rhinoorbitocerebral phycomycosis is a fulminant and frequently fatal disease most often seen in debilitated hosts...

journal_title：Annals of neurology

authors： Kasper LH,Bernat JL,Nordgren RE,Reeves AG

更新日期：1979-08-01 00:00:00

abstract：:The clinical and neuropathological findings in 28 cases of paramedian thalamic and midbrain infarcts are reported. The 4 instances of unilateral paramedian thalamic infarct were characterized by mood and behavioral changes, limitation of the infarct to the center of the anatomical paramedian territory, and symmetrical...

journal_title：Annals of neurology

authors： Castaigne P,Lhermitte F,Buge A,Escourolle R,Hauw JJ,Lyon-Caen O

更新日期：1981-08-01 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：:Clinical seizure manifestations, physical examination, radiological studies, neuropsychological tests, and scalp and depth electroencephalographic (EEG) studies were done to localize seizure foci in 32 patients, 23 of whom have undergone surgery with more than one year of follow-up. Of 16 patients with unlocalized sca...

journal_title：Annals of neurology

authors： Spencer SS,Spencer DD,Williamson PD,Mattson RH

更新日期：1982-09-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to investigate whether cytosolic phospholipase A2 (cPLA2 ), an important isoform of PLA2 that mediates the release of arachidonic acid, plays a role in the pathogenesis of spinal cord injury (SCI). METHODS:A combination of molecular, histological, immunohistochemical, and beha...

journal_title：Annals of neurology

authors： Liu NK,Deng LX,Zhang YP,Lu QB,Wang XF,Hu JG,Oakes E,Bonventre JV,Shields CB,Xu XM

更新日期：2014-05-01 00:00:00

abstract：:The etiology of sudden death in patients with epilepsy remains unclear. Previous studies in a well-established sheep model of status epilepticus showed that more than one-third of the unsedated animals died within 5 minutes of seizure onset due to hypoventilation. The relative contributions of airway obstruction and c...

journal_title：Annals of neurology

authors： Johnston SC,Siedenberg R,Min JK,Jerome EH,Laxer KD

更新日期：1997-10-01 00:00:00

abstract：:Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We pres...

journal_title：Annals of neurology

authors： Beall SS,Patten BM,Mallette L,Jankovic J

更新日期：1989-10-01 00:00:00

abstract：OBJECTIVE:The prevalence of mitochondrial disease has proven difficult to establish, predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of mitochondrial disease has expanded significantly since the original reports that associated classic clinical syndromes with mitochondrial DNA (...

journal_title：Annals of neurology

authors： Gorman GS,Schaefer AM,Ng Y,Gomez N,Blakely EL,Alston CL,Feeney C,Horvath R,Yu-Wai-Man P,Chinnery PF,Taylor RW,Turnbull DM,McFarland R

更新日期：2015-05-01 00:00:00

abstract：:A patient with recessive generalized congenital myotonia and severe, disabling weakness underwent various forms of treatment while being monitored electrophysiologically. Phenytoin, verapamil, and acetazolamide were ineffective, but tocainide yielded good results. Improvement was dose-dependent, and was limited by irr...

journal_title：Annals of neurology

authors： Streib EW

更新日期：1986-05-01 00:00:00

abstract：:Recently, transcranial Doppler sonography has been introduced into clinical practice for noninvasive investigation of the large intracranial arteries. To determine its accuracy for detection of stenosing or occluding lesions, 133 consecutive patients were studied by both transcranial Doppler sonography and selective c...

journal_title：Annals of neurology

authors： Ley-Pozo J,Ringelstein EB

更新日期：1990-11-01 00:00:00

abstract：:Life table methods were used to determine the relative risk of Alzheimer's disease (AD) in relatives of index cases with AD. Risk of AD was assessed in 967 first-degree relatives of 128 probands with clinically diagnosed AD and 572 first-degree relatives of a control group consisting of 84 subjects with Parkinson's di...

journal_title：Annals of neurology

authors： Farrer LA,O'Sullivan DM,Cupples LA,Growdon JH,Myers RH

更新日期：1989-05-01 00:00:00

abstract：OBJECTIVE:Cognitive decline accompanies acute illness and surgery, especially in the elderly. Surgery engages the innate immune system that launches a systemic inflammatory response that, if unchecked, can cause multiple organ dysfunction. We sought to understand the mechanisms whereby the brain is targeted by the infl...

journal_title：Annals of neurology

authors： Terrando N,Eriksson LI,Ryu JK,Yang T,Monaco C,Feldmann M,Jonsson Fagerlund M,Charo IF,Akassoglou K,Maze M

更新日期：2011-12-01 00:00:00

abstract：OBJECTIVE:To examine changes in the response properties of meningeal nociceptors that might lead to migraine pain and examine endogenous processes that could play a role in mediating them using a clinically relevant model of migraine triggering, namely infusion of the nitric oxide (NO) donor nitroglycerin (NTG). METHO...

journal_title：Annals of neurology

authors： Zhang X,Kainz V,Zhao J,Strassman AM,Levy D

更新日期：2013-06-01 00:00:00

abstract：:Fifteen drug-free patients with early to midstage Huntington's disease were evaluated with quantitative neurological examinations, scales for functional capacity, computed tomographic (CT) scans, and positron emission tomographic (PET) scans of 18F-2-fluoro-2-deoxyglucose (18F-FDG) uptake. All patients had abnormal in...

journal_title：Annals of neurology

authors： Young AB,Penney JB,Starosta-Rubinstein S,Markel DS,Berent S,Giordani B,Ehrenkaufer R,Jewett D,Hichwa R

更新日期：1986-09-01 00:00:00

abstract：:The North American study of plasmapheresis in Guillain-Barré syndrome (GBS) included early, standardized electrodiagnostic testing in 210 of the 245 patients. To determine the types of abnormalities and the relation to outcome, we analyzed the prospectively collected motor conduction data obtained during the first 30 ...

journal_title：Annals of neurology

authors： Cornblath DR,Mellits ED,Griffin JW,McKhann GM,Albers JW,Miller RG,Feasby TE,Quaskey SA

更新日期：1988-04-01 00:00:00

abstract：:Although the cause of multiple sclerosis (MS) has remained obscure, many findings support an autoimmune pathogenesis on the background of a complex interaction between multiple genes and environmental factors. Accordingly, targeting the immune system has been a rational approach for the treatment of MS. The developmen...

journal_title：Annals of neurology

authors： Hemmer B,Hartung HP

更新日期：2007-10-01 00:00:00

abstract：:A 9-year-old, blind boy with severe mental retardation with a chronic sleep/wake disturbance had a circadian rhythm of 24.75 hours and an internal desynchronization of the endogenous rhythms. Treatment with oral melatonin given at 6 PM induced a regular sleep/wake pattern. Melatonin, in this patient, convincingly entr...

journal_title：Annals of neurology

authors： Palm L,Blennow G,Wetterberg L

更新日期：1991-03-01 00:00:00

abstract：:Sporadic amyotrophic lateral sclerosis is a motor neuron disease of unknown origin. Autoimmunity against voltage-gated calcium channels is one mechanism hypothesized to be the cause of the disease. In support of this hypothesis, it was previously reported that amyotrophic lateral sclerosis IgG specifically blocked the...

journal_title：Annals of neurology

authors： Nyormoi O

更新日期：1996-11-01 00:00:00

abstract：:There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffini...

journal_title：Annals of neurology

authors： Nelson KB,Grether JK,Croen LA,Dambrosia JM,Dickens BF,Jelliffe LL,Hansen RL,Phillips TM

更新日期：2001-05-01 00:00:00

abstract：:We describe a 50-year-old male patient with hyponatremia (serum sodium level, 128 mEq/L) discovered during routine follow-up for Henoch-Schönlein nephritis. The patient was known to have a generalized idiopathic epilepsy and was on 2,000 mg/day of sodium valproate. After exclusion of other causes such as hypothyroidis...

journal_title：Annals of neurology

authors： Branten AJ,Wetzels JF,Weber AM,Koene RA

更新日期：1998-02-01 00:00:00

abstract：:Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...

journal_title：Annals of neurology

authors： Becher MW,Kotzuk JA,Davis LE,Bear DG

更新日期：2000-11-01 00:00:00

abstract：:Two distinct deficits of ocular smooth pursuit could be demonstrated using two types of visual stimulus motion in a patient who had suffered bilateral occipitoparietal lobe infarction. First, in response to constant-velocity (zero acceleration) target motion, smooth pursuit gain (eye velocity/target velocity) was mild...

journal_title：Annals of neurology

authors： Leigh RJ,Tusa RJ

更新日期：1985-02-01 00:00:00

abstract：:Neuromuscular disorders reported in association with human immunodeficiency virus (HIV) infection include several forms of peripheral neuropathy and polymyositis. We report 11 patients with HIV-associated myopathy. Five patients with acquired immunodeficiency syndrome (AIDS), 2 with AIDS-related complex, and 4 otherwi...

journal_title：Annals of neurology

authors： Simpson DM,Bender AN

更新日期：1988-07-01 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:The cortex of patients with cortical dysplasia contains several abnormal cell types. Among the dysplastic cells, cytomegalic neurons are known to be electrically hyperactive and may contribute to epileptic activity. In this study, we sought to identify molecular markers of cytomegalic neurons in focal or hemi...

journal_title：Annals of neurology

authors： Ljungberg MC,Bhattacharjee MB,Lu Y,Armstrong DL,Yoshor D,Swann JW,Sheldon M,D'Arcangelo G

更新日期：2006-10-01 00:00:00

abstract：:Myelination is a central nervous system (CNS) process wherein oligodendrocyte-axon interactions lead to the establishment of myelin sheaths that stabilize, protect, and electrically insulate axons. In inflammatory demyelinating diseases such as multiple sclerosis (MS), the degeneration and eventual loss of functional ...

journal_title：Annals of neurology

authors： Kremer D,Aktas O,Hartung HP,Küry P

更新日期：2011-04-01 00:00:00

abstract：:Brains from male cases with dyslexia show symmetry of the planum temporale and predominantly left-sided cerebrocortical microdysgenesis. We now report on three women with dyslexia. In all brains, the planum temporale was again symmetrical. Also, in two of the brains, multiple foci of cerebrocortical glial scarring wer...

journal_title：Annals of neurology

authors： Humphreys P,Kaufmann WE,Galaburda AM

更新日期：1990-12-01 00:00:00