Muscular dystrophy associated with beta-Dystroglycan deficiency.

abstract：:Excessive astrocytosis in cortical tubers in tuberous sclerosis complex (TSC) suggests that astrocytes may be important for epileptogenesis in TSC. We previously demonstrated that astrocyte-specific Tsc1 gene inactivation in mice (Tsc1 cKO mice) results in progressive epilepsy. Here, we report that glutamate transport...

journal_title：Annals of neurology

authors： Wong M,Ess KC,Uhlmann EJ,Jansen LA,Li W,Crino PB,Mennerick S,Yamada KA,Gutmann DH

更新日期：2003-08-01 00:00:00

abstract：OBJECTIVE:Somnambulism affects up to 4% of adults and constitutes one of the leading causes of sleep-related violence and self-injury. Diagnosing somnambulism with objective instruments is often difficult because episodes rarely occur in the laboratory. Because sleep deprivation can precipitate sleepwalking, we aimed t...

journal_title：Annals of neurology

authors： Zadra A,Pilon M,Montplaisir J

更新日期：2008-04-01 00:00:00

abstract：:We report the clinical and neuropathological findings in an immunocompetent 19-year-old patient with a fatal acute Epstein-Barr virus (EBV) meningoencephalitis and a lymphoma-like B-lymphocyte response. Our results suggest that an immunotoxic rather than direct viral neuronal invasion mediates brain damage in EBV ence...

journal_title：Annals of neurology

authors： Schellinger PD,Sommer C,Leithäuser F,Schwab S,Storch-Hagenlocher B,Hacke W,Kiessling M

更新日期：1999-05-01 00:00:00

abstract：OBJECTIVE:Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS:Over the past 9 years, we have enrolled and studied a cohort of...

journal_title：Annals of neurology

authors： Hu B,McCollum M,Ravi V,Arpag S,Moiseev D,Castoro R,Mobley B,Burnette B,Siskind C,Day J,Yawn R,Feely S,Li Y,Yan Q,Shy M,Li J

更新日期：2018-04-01 00:00:00

abstract：:A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X)....

journal_title：Annals of neurology

authors： Inoue K,Shilo K,Boerkoel CF,Crowe C,Sawady J,Lupski JR,Agamanolis DP

更新日期：2002-12-01 00:00:00

abstract：OBJECTIVE:Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognized feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this st...

journal_title：Annals of neurology

authors： Yates RL,Esiri MM,Palace J,Jacobs B,Perera R,DeLuca GC

更新日期：2017-08-01 00:00:00

abstract：:Amphiphysin-IgG was identified in 71 patients among 120,000 evaluated serologically for paraneoplastic autoantibodies. Clinical information was available for 63 patients. Cancer was detected in 50 (mostly limited), proven histologically in 46, and was imaged intrathoracically in 4 patients (lung, small-cell [27] and n...

journal_title：Annals of neurology

authors： Pittock SJ,Lucchinetti CF,Parisi JE,Benarroch EE,Mokri B,Stephan CL,Kim KK,Kilimann MW,Lennon VA

更新日期：2005-07-01 00:00:00

abstract：:Measurement of conduction velocity along the H reflex arc was used to study sensorimotor peripheral nerve function in diabetic patients during short- and long-term improvement of hyperglycemia. In ten type I diabetics a slight (p less than 0.05) conduction increase occurred after 6 hours of normal glycemia induced by ...

journal_title：Annals of neurology

authors： Troni W,Carta Q,Cantello R,Caselle MT,Rainero I

更新日期：1984-08-01 00:00:00

abstract：:A 30-year-old male drug abuser developed ophthalmoplegia, bulbar paralysis, and limb weakness responsive to edrophonium. However, potentiation of a low-amplitude evoked muscle action potential was produced with repetitive nerve stimulation at 10 Hz, and the clinical and electrophysiological data suggested the diagnosi...

journal_title：Annals of neurology

authors： Rapoport S,Watkins PB

更新日期：1984-09-01 00:00:00

abstract：:Tropical spastic paraparesis (TSP) and other chronic-progressive myelopathies have been clearly associated with increased serum and cerebrospinal fluid antibody titers to human T-lymphotropic virus type I (HTLV-I). However, little is known about the cellular immune function in TSP. In the present study, activated T ly...

journal_title：Annals of neurology

authors： Jacobson S,Gupta A,Mattson D,Mingioli E,McFarlin DE

更新日期：1990-02-01 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：:We describe a method of cortical stimulation for localizing functional areas of brain before operation for primary brain tumors that was carried out in 14 patients. The method is unique in that the stimulation is done over several days using chronically indwelling subdural electrode arrays. In addition to cortical sti...

journal_title：Annals of neurology

authors： Morris HH 3rd,Lüders H,Hahn JF,Lesser RP,Dinner DS,Estes ML

更新日期：1986-06-01 00:00:00

abstract：:We report a neurological disease among Cree Indian children in a northern Quebec village. The disease manifests as severe mental retardation, cerebral atrophy with white matter changes and calcifications, and systemic immunological abnormalities. Eleven cases are known in five families. The familial incidence of cases...

journal_title：Annals of neurology

authors： Black DN,Watters GV,Andermann E,Dumont C,Kabay ME,Kaplan P,Meagher-Villemure K,Michaud J,O'Gorman G,Reece E

更新日期：1988-10-01 00:00:00

abstract：:Auditory evoked magnetic fields to noise/square-wave sequences, presented once every 2.2 seconds, were recorded in 8 patients who had ischemic lesions in the auditory cortex or in its vicinity. In 2 patients with large temporoparietal lesions, the magnetic 100-msec deflection (N100m) was absent over the damaged side. ...

journal_title：Annals of neurology

authors： Mäkelä JP,Hari R,Valanne L,Ahonen A

更新日期：1991-07-01 00:00:00

abstract：OBJECTIVE:MRI-negative (MRI-) pharmacoresistant focal epilepsy (PFE) patients are most challenging for epilepsy surgical management. This study utilizes a voxel-based MRI postprocessing technique, implemented using a morphometric analysis program (MAP), aiming to facilitate detection of subtle focal cortical dysplasia ...

journal_title：Annals of neurology

authors： Wang ZI,Alexopoulos AV,Jones SE,Najm IM,Ristic A,Wong C,Prayson R,Schneider F,Kakisaka Y,Wang S,Bingaman W,Gonzalez-Martinez JA,Burgess RC

更新日期：2014-05-01 00:00:00

abstract：:An inception cohort of 40 children and adolescents with traumatic brain injury and suspected diffuse axonal injury were studied using a new high-resolution magnetic resonance imaging susceptibility-weighted technique that is very sensitive for hemorrhage. A blinded comparison was performed between the extent of parenc...

journal_title：Annals of neurology

authors： Tong KA,Ashwal S,Holshouser BA,Nickerson JP,Wall CJ,Shutter LA,Osterdock RJ,Haacke EM,Kido D

更新日期：2004-07-01 00:00:00

abstract：:Brainstem auditory evoked responses (BAERs) were recorded from 202 patients with definite, probable, or possible multiple sclerosis (MS). Definitions of abnormality were based only on interwave separations and the wave I/wave V amplitude ratio. Thirty-two percent of the patients had abnormal BAERs, and the presence of...

journal_title：Annals of neurology

authors： Chiappa KH,Harrison JL,Brooks EB,Young RR

更新日期：1980-02-01 00:00:00

abstract：:Dopa-responsive dystonia (DRD) is one form of childhood-onset idiopathic torsion dystonia. Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expression of the disease. We report a family with DRD in which 2 women a...

journal_title：Annals of neurology

authors： Nygaard TG,Takahashi H,Heiman GA,Snow BJ,Fahn S,Calne DB

更新日期：1992-11-01 00:00:00

abstract：:Cerebrospinal fluid and plasma vasopressin were measured in patients with cerebral disorders associated with varying levels of elevated intracranial pressure. The mean cerebrospinal fluid vasopressin concentration was significantly increased in patients with pseudotumor cerebri (2.0 +/- 0.2 [SEM] pg/ml), intracranial ...

journal_title：Annals of neurology

authors： Sørensen PS,Gjerris F,Hammer M

更新日期：1984-05-01 00:00:00

abstract：:To determine the role of recombinant human erythropoietin as a possible treatment option in Friedreich's ataxia, we performed an open-label clinical pilot study. Primary outcome measure was the change of frataxin levels at week 8 versus baseline. Twelve Friedreich's ataxia patients received 5,000 units recombinant hum...

journal_title：Annals of neurology

authors： Boesch S,Sturm B,Hering S,Goldenberg H,Poewe W,Scheiber-Mojdehkar B

更新日期：2007-11-01 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：:In a double-blind crossover study in which patients received placebo or active drug for varying periods, we evaluated the ability of guanidine hydrochloride (20 to 35 mg/kg per day perorally) to improve the rate of recovery in patients with moderate or severe botulism, type A, intoxication. Among 14 patients who recei...

journal_title：Annals of neurology

authors： Kaplan JE,Davis LE,Narayan V,Koster J,Katzenstein D

更新日期：1979-07-01 00:00:00

abstract：:The developmental sequence of sleep cycles has been found to be a useful index of central nervous system maturation in premature infants. To determine the effects of severe reversible stress on the maturation of sleep cycles, 6- to 8-hour sleep studies were done on 10 premature infants with severe hyaline membrane dis...

journal_title：Annals of neurology

authors： Holmes GL,Logan WJ,Kirkpatrick BV,Meyer EC

更新日期：1979-12-01 00:00:00

abstract：:Indirect evidence suggests that an autoimmune response to myelin basic protein (MBP) may be involved in the pathogenesis of multiple sclerosis (MS). In MS, several reports have suggested that restricted T-cell populations respond to MPB, as in inbred rodents with the MS disease model experimental allergic encephalomye...

journal_title：Annals of neurology

authors： Joshi N,Usuku K,Hauser SL

更新日期：1993-09-01 00:00:00

abstract：:We studied the impact of cerebral amyloid angiopathy on tissue plasminogen activator-induced cerebral hemorrhages in APP23 transgenic mice. Results show that the intravenous administration of tissue plasminogen activator in APP23 mice leads to an increase in cerebral amyloid angiopathy-associated microhemorrhages and ...

journal_title：Annals of neurology

authors： Winkler DT,Biedermann L,Tolnay M,Allegrini PR,Staufenbiel M,Wiessner C,Jucker M

更新日期：2002-06-01 00:00:00

abstract：:We report biochemical, immunological, and morphological findings in a patient with fatal Kearns-Sayre syndrome. Histochemical and biochemical findings from muscle biopsy specimens obtained 7 years apart documented the disease's evolution from a mild mitochondrial disorder affecting a small proportion of muscle fibers ...

journal_title：Annals of neurology

authors： Bresolin N,Moggio M,Bet L,Gallanti A,Prelle A,Nobile-Orazio E,Adobbati L,Ferrante C,Pellegrini G,Scarlato G

更新日期：1987-06-01 00:00:00

abstract：:Calcium/calmodulin-dependent serine protein kinase (CASK) belongs to the membrane-associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK ge...

journal_title：Annals of neurology

authors： Hsueh YP

更新日期：2009-10-01 00:00:00

abstract：:We measured neurotransmitter markers in autopsied brain of infants with glycine encephalopathy (GE). Because patients with GE develop intractable seizures, special attention was devoted to those neurotransmitter systems implicated in human epilepsy. Mean levels of glycine in the frontal cortex of GE patients were thre...

journal_title：Annals of neurology

authors： Kish SJ,Dixon LM,Burnham WM,Perry TL,Becker L,Cheng J,Chang LJ,Rebbetoy M

更新日期：1988-09-01 00:00:00

abstract：:Ten patients with sporadic olivopontocerebellar atrophy and autonomic failure were studied with positron emission tomography. Subjects underwent both an [11C]diprenorphine and an [18F]fluorodopa scan. The mean caudate-occipital uptake ratio for [11C]diprenorphine was significantly reduced to 88% and the putamen-occipi...

journal_title：Annals of neurology

authors： Rinne JO,Burn DJ,Mathias CJ,Quinn NP,Marsden CD,Brooks DJ

更新日期：1995-05-01 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