Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

abstract：OBJECTIVE:Amyotrophic lateral sclerosis/parkinsonism-dementia complex has been described in Guam, Western Papua, and the Kii Peninsula of Japan. The etiology and pathogenesis of this complex neurodegenerative disease remains enigmatic. METHODS:In this study, we have used targeted genomic sequencing to evaluate the con...

journal_title：Annals of neurology

authors： Steele JC,Guella I,Szu-Tu C,Lin MK,Thompson C,Evans DM,Sherman HE,Vilariño-Güell C,Gwinn K,Morris H,Dickson DW,Farrer MJ

更新日期：2015-03-01 00:00:00

abstract：:A 64-year-old man developed lethargy and aphasia immediately following cerebral arteriography with iothalamate meglumine. An electroencephalogram showed continuous epileptiform activity. The patient was treated with intravenous phenytoin with complete resolution of clinical symptoms and electroencephalographic epilept...

journal_title：Annals of neurology

authors： Vickrey BG,Bahls FH

更新日期：1989-02-01 00:00:00

abstract：:The pontine tegmentum contains the neurons responsible for generation of saccadic eye movements and certain phases of sleep. We studied two genetically unrelated patients with spinocerebellar degeneration and slow saccadic eye movements. Multiple all-night sleep studies in both patients disclosed absence of REM and st...

journal_title：Annals of neurology

authors： Osorio I,Daroff RB

更新日期：1980-03-01 00:00:00

abstract：:A 26-year-old woman was in spontaneous clinical remission from myasthenia gravis (MG) for six months, yet gave birth to a full-term infant with typical neonatal MG. It is believed that transplacental transfer of anti-acetylcholine (ACh) receptor antibodies is responsible for neonatal MG; therefore, neonatal MG represe...

journal_title：Annals of neurology

authors： Elias SB,Butler I,Appel SH

更新日期：1979-07-01 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

abstract：:Nineteen patients aged 4 to 44 years with generalized epilepsy and generalized 3 Hz spike-and-wave activity, were monitored for 24 or 36 hours on one to nine occasions to determine the time distribution of ictal and interictal electroencephalographic discharges and the consistency of the time patterns observed. Two pa...

journal_title：Annals of neurology

authors： Kellaway P,Frost JD Jr,Crawley JW

更新日期：1980-11-01 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：:A 41-year-old right-handed man developed disturbances of language and memory after a discrete thalamic infarction. Detailed neuropsychological assessment revealed deficits in verbal fluency, word finding, confrontation naming, and anterograde memory for verbal material. High-resolution computed tomography with stereot...

journal_title：Annals of neurology

authors： Mori E,Yamadori A,Mitani Y

更新日期：1986-12-01 00:00:00

abstract：OBJECTIVE:Human immunodeficiency virus (HIV) infection of the central nervous system (CNS) is frequently associated with intrathecal immunoglobulin synthesis and cerebrospinal fluid (CSF) pleocytosis, but little is known about the B-cell response in the CSF of these patients. In this study, we investigated the relation...

journal_title：Annals of neurology

authors： Cepok S,von Geldern G,Nolting T,Grummel V,Srivastava R,Zhou D,Hartung HP,Adams O,Arendt G,Hemmer B

更新日期：2007-11-01 00:00:00

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：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：:Microelectrode recording methods for stereotactic localization of the subthalamic nucleus (STN) and surrounding structures are described. These methods accurately define targets for chronic deep brain stimulation in the treatment of Parkinson's disease. Mean firing rates and a burst index were determined for all recor...

journal_title：Annals of neurology

authors： Hutchison WD,Allan RJ,Opitz H,Levy R,Dostrovsky JO,Lang AE,Lozano AM

更新日期：1998-10-01 00:00:00

abstract：:This study quantitatively explored the dendritic/spine extent of supragranular pyramidal neurons across several cortical areas in two adult male subjects who had undergone a callosotomy several decades before death. In all cortical areas, there were numerous atypical, supragranular pyramidal neurons with elongated "ta...

journal_title：Annals of neurology

authors： Jacobs B,Creswell J,Britt JP,Ford KL,Bogen JE,Zaidel E

更新日期：2003-07-01 00:00:00

abstract：:Parkinson's disease evolves slowly, and there is current interest in exploring the earliest stages of the disorder, because of new approaches to studying pathogenesis and developing potential neuroprotective treatment. Recognizing early Parkinson's disease is not easy. The certainty of diagnosis increases as the disea...

journal_title：Annals of neurology

authors： Calne DB,Snow BJ,Lee C

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:A study was undertaken to describe the clinical spectrum, voltage-gated potassium channel (VGKC) complex antibody specificities, and central nervous system localization of antibody binding in 29 patients diagnosed with Morvan syndrome (MoS). METHODS:Clinical data were collected using questionnaires. Radioimm...

journal_title：Annals of neurology

authors： Irani SR,Pettingill P,Kleopa KA,Schiza N,Waters P,Mazia C,Zuliani L,Watanabe O,Lang B,Buckley C,Vincent A

更新日期：2012-08-01 00:00:00

abstract：OBJECTIVE:Hemodynamic impairment in one hemisphere has been shown to trigger ipsilateral motor activation in the opposite hemisphere on functional imaging. We hypothesized that reversing the hypoperfusion would normalize the motor activation pattern. METHODS:We studied four patients with high-grade stenosis and impair...

journal_title：Annals of neurology

authors： Chmayssani M,Lazar RM,Hirsch J,Marshall RS

更新日期：2009-02-01 00:00:00

abstract：:Previous imaging studies using 11C-flumazenil in patients with mesial temporal lobe epilepsy and neocortical partial seizure disorders have found focal decreases in gamma-aminobutyric acid type A/benzodiazepine receptor binding. These studies used subjective visual assessment and a region of interest approach to quant...

journal_title：Annals of neurology

authors： Richardson MP,Koepp MJ,Brooks DJ,Fish DR,Duncan JS

更新日期：1996-08-01 00:00:00

abstract：:The characteristic pathological features of Huntington's disease (HD) are neostriatal atrophy and neuronal loss. Although neuroradiological studies often show caudate atrophy in patients with moderate HD, frequently no caudate atrophy is found early in the illness. There have been no quantitative reports to date on in...

journal_title：Annals of neurology

authors： Harris GJ,Pearlson GD,Peyser CE,Aylward EH,Roberts J,Barta PE,Chase GA,Folstein SE

更新日期：1992-01-01 00:00:00

abstract：:The current functional model of the basal ganglia suggests that dyskinesia results from abnormally low activity at the output of the system. This view appears incomplete. The recent literature suggests other factors. Thus, dyskinesia may result from disturbance of surround inhibition: a physiologic mechanism to select...

journal_title：Annals of neurology

authors： Filion M

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVE:Recanalization of arterial obstruction is associated with improved clinical outcomes. There are no controlled data demonstrating whether arterial obstruction status predicts the treatment effect of intravenous (IV) tissue plasminogen activator (tPA). We aimed to determine if the presence of arterial obstructi...

journal_title：Annals of neurology

authors： De Silva DA,Churilov L,Olivot JM,Christensen S,Lansberg MG,Mlynash M,Campbell BC,Desmond P,Straka M,Bammer R,Albers GW,Davis SM,Donnan GA,EPITHET-DEFUSE Investigators.

更新日期：2011-10-01 00:00:00

abstract：:We recently reported that systemic administration of a proteasome inhibitor induced a progressive levodopa-responsive, bradykinetic syndrome in rats with imaging, pathological, and biochemical features that strikingly resemble what is found in PD. This model has the potential to be a useful tool for studying the mecha...

journal_title：Annals of neurology

authors： McNaught KS,Olanow CW

更新日期：2006-08-01 00:00:00

abstract：:Antibodies to Ma1 and Ma2 proteins identify a paraneoplastic disorder that affects the limbic system, brain stem, and cerebellum. Preliminary studies suggested the existence of other Ma proteins and different patterns of immune response associated with distinct neurologic symptoms and cancers. In this study, our aim w...

journal_title：Annals of neurology

authors： Rosenfeld MR,Eichen JG,Wade DF,Posner JB,Dalmau J

更新日期：2001-09-01 00:00:00

abstract：:A persistent vegetative state (severe dementia) developed in a 30-year-old man following hypoglycemic coma. Despite the poor clinical outcome, sensory evoked response recovered between 6 and 34 months after the insult. The cerebral blood flow level at rest after 34 months was slightly above the normal range. This find...

journal_title：Annals of neurology

authors： Agardh CD,Rosén I,Ryding E

更新日期：1983-10-01 00:00:00

abstract：:We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studi...

journal_title：Annals of neurology

authors： Servidei S,Shanske S,Zeviani M,Lebo R,Fletterick R,DiMauro S

更新日期：1988-12-01 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：OBJECTIVE:Though effective anti-human immunodeficiency virus (HIV) therapies are now available, they have variable penetration into the brain. We therefore aimed to assess changes over calendar time in the risk for HIV-associated dementia (HIV-D), and factors associated with HIV-D risk. METHODS:Using Concerted Action ...

journal_title：Annals of neurology

authors： Bhaskaran K,Mussini C,Antinori A,Walker AS,Dorrucci M,Sabin C,Phillips A,Porter K,CASCADE Collaboration.

更新日期：2008-02-01 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：:A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...

journal_title：Annals of neurology

authors： Hudson AJ,Farrell MA,Kalnins R,Kaufmann JC

更新日期：1983-12-01 00:00:00

abstract：:Cylindrical spirals are unique membranous structures that were detected in skeletal muscle of a mother and one of her two children; all three have percussion myotonia but no evidence of weak or wasted skeletal muscles. Muscle cramps, stiffness, posteffort muscle tightness, myotonic lid lag, and the cylinders appear or...

journal_title：Annals of neurology

authors： Bove KE,Iannaccone ST,Hilton PK,Samaha F

更新日期：1980-06-01 00:00:00

abstract：:Changes in endoneurial fluid pressure (EFP) and morphology were studied in rat sciatic nerves frozen for 60 seconds with a cryoprobe designed for human cryoanalgesia. The onset of increased EFP was rapid, and a peak of 23 cm H2O was reached within 90 minutes after injury. EFP levels returned to normal 32 days after fr...

journal_title：Annals of neurology

authors： Myers RR,Powell HC,Heckman HM,Costello ML,Katz J

更新日期：1981-11-01 00:00:00