Defining a therapeutic target for pallidal deep brain stimulation for dystonia.

abstract：:We here report the second and third mutations in alphaB-crystallin causing myofibrillar myopathy. Two patients had adult-onset muscle weakness. Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of respiratory failure. Patient 2 had proximal and distal leg muscle weakness. Both had myopathic...

journal_title：Annals of neurology

authors： Selcen D,Engel AG

更新日期：2003-12-01 00:00:00

abstract：:Cytogenetic analysis has become an important part of the diagnostic evaluation of most hematological neoplasms. However, there is limited information on the value of cytogenetic analysis in most solid tumors, including cerebral astrocytomas. This report summarizes a prospective cytogenetic study of 99 human cerebral a...

journal_title：Annals of neurology

authors： Kimmel DW,O'Fallon JR,Scheithauer BW,Kelly PJ,Dewald GW,Jenkins RB

更新日期：1992-05-01 00:00:00

abstract：:Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intenti...

journal_title：Annals of neurology

authors： Snijders AH,Takakusaki K,Debu B,Lozano AM,Krishna V,Fasano A,Aziz TZ,Papa SM,Factor SA,Hallett M

更新日期：2016-11-01 00:00:00

abstract：:The subtype IV of Machado-Joseph disease (MJD), characterized by parkinsonism variably combined with ataxia, distal atrophy, and sensory loss, has been all but ignored in recent reports of MJD, including those describing the molecular biologic substrate of the disease. We have demonstrated expansion of the CAG trinucl...

journal_title：Annals of neurology

authors： Tuite PJ,Rogaeva EA,St George-Hyslop PH,Lang AE

更新日期：1995-10-01 00:00:00

abstract：:To investigate the potential role of drug therapy in preventing or exacerbating seizure-related brain injury in the prepubescent brain, we administered kainic acid to rats at postnatal day 35. Therapy with daily phenobarbital was started directly before or 1 day after kainic acid was administered, and was continued th...

journal_title：Annals of neurology

authors： Mikati MA,Holmes GL,Chronopoulos A,Hyde P,Thurber S,Gatt A,Liu Z,Werner S,Stafstrom CE

更新日期：1994-09-01 00:00:00

abstract：:A brief description is given of neurofibrillary changes of the paired helical filament type in a variety of chronic neurological diseases. These include subacute sclerosing panencephalitis, lead encephalopathy, tuberous sclerosis, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis. In these conditions, with...

journal_title：Annals of neurology

authors： Wisniewski K,Jervis GA,Moretz RC,Wisniewski HM

更新日期：1979-03-01 00:00:00

abstract：OBJECTIVE:Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex ...

journal_title：Annals of neurology

authors： Furuya S,Nitsche MA,Paulus W,Altenmüller E

更新日期：2014-05-01 00:00:00

abstract：:Gene therapy methods have continued to develop rapidly, and many initial limitations that hampered clinical application have been overcome. Thus serious consideration of clinical application of gene therapy is warranted for selected disorders in which the pathogenesis is well defined. Parkinson's disease has been the ...

journal_title：Annals of neurology

authors： Kang UJ,Nakamura K

更新日期：2003-01-01 00:00:00

abstract：:To study distribution and patterns of nerve hypertrophy in chronic inflammatory demyelinating polyneuropathy (CIDP), magnetic resonance neurography with 3-dimensional reconstruction of short tau inversion recovery images was performed in 33 patients. This technique clearly showed longitudinal morphological changes fro...

journal_title：Annals of neurology

authors： Shibuya K,Sugiyama A,Ito S,Misawa S,Sekiguchi Y,Mitsuma S,Iwai Y,Watanabe K,Shimada H,Kawaguchi H,Suhara T,Yokota H,Matsumoto H,Kuwabara S

更新日期：2015-02-01 00:00:00

abstract：:The effect of focal ischemia on tissue pH was studied at various times up to 6 hours after permanent middle cerebral artery occlusion in rats. Tissue pH was imaged by using umbelliferone fluorescence and correlated with cerebral blood flow, ATP content, and recordings of the steady potential. Circumscribed foci of all...

journal_title：Annals of neurology

authors： Back T,Hoehn M,Mies G,Busch E,Schmitz B,Kohno K,Hossmann KA

更新日期：2000-04-01 00:00:00

abstract：:Instrumental neutron activation analysis procedures were used to determine the aluminum content of various brain regions in histologically verified Alzheimer disease (AD) and in controls. The grand mean aluminum level for 74 AD specimens was 0.372 +/- 0.058 microgram/gm and for 137 adult controls, 0.467 +/- 0.033 micr...

journal_title：Annals of neurology

authors： Markesbery WR,Ehmann WD,Hossain TI,Alauddin M,Goodin DT

更新日期：1981-12-01 00:00:00

abstract：:A recent controlled clinical trial suggested a role for amantadine as a treatment for pathological gambling in patients with Parkinson disease (PD). Analyzing data from a large cross-sectional study of impulse control disorders (ICDs) in PD, amantadine use (n = 728), vs no amantadine use (n = 2,357), was positively as...

journal_title：Annals of neurology

authors： Weintraub D,Sohr M,Potenza MN,Siderowf AD,Stacy M,Voon V,Whetteckey J,Wunderlich GR,Lang AE

更新日期：2010-12-01 00:00:00

abstract：:Muscle afferent activity from the triceps surae was recorded during experimentally induced alterations in amplitude of the Achilles tendon jerk. No changes in the neural afferent response to tendon percussion or in the background level of neural activity occurred when the reflex response was altered by discomfort, dis...

journal_title：Annals of neurology

authors： Burke D,McKeon B,Skuse NF

更新日期：1981-12-01 00:00:00

abstract：OBJECTIVE:To investigate whether phospholipase A2 (PLA2) plays a role in the pathogenesis of spinal cord injury (SCI). METHODS:Biochemical, Western blot, histological, immunohistochemical, electron microscopic, electrophysiological, and behavior assessments were performed to investigate (1) SCI-induced PLA2 activity, ...

journal_title：Annals of neurology

authors： Liu NK,Zhang YP,Titsworth WL,Jiang X,Han S,Lu PH,Shields CB,Xu XM

更新日期：2006-04-01 00:00:00

abstract：:Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the...

journal_title：Annals of neurology

authors： Boerkoel CF,Takashima H,Nakagawa M,Izumo S,Armstrong D,Butler I,Mancias P,Papasozomenos SC,Stern LZ,Lupski JR

更新日期：2003-03-01 00:00:00

abstract：:This report reviews the fundamental principles and the changing concepts of nerve stimulation techniques, and discusses the proper application of these techniques in the differential diagnosis of peripheral nerve disorders. Nerve conduction studies help delineate the extent and distribution of the neural lesion and di...

journal_title：Annals of neurology

authors： Kimura J

更新日期：1984-10-01 00:00:00

abstract：:We report an immunohistochemical study of the mitochondrial alpha-ketoglutarate dehydrogenase complex (KGDHC) in the substantia nigra in Parkinson's disease. The KGDHC, the three enzyme complex catalyzing the oxidation of alpha-ketoglutarate to succinate through succinic semialdehyde, is the rate-regulating enzyme of ...

journal_title：Annals of neurology

authors： Mizuno Y,Matuda S,Yoshino H,Mori H,Hattori N,Ikebe S

更新日期：1994-02-01 00:00:00

abstract：:During passive extension of the elbow, the triceps muscle normally shows a burst of electromyographic activity. This shortening reaction (SR) is known to be exaggerated in extrapyramidal disease states, but the effects of cerebellar disease are unknown. The SR was measured in both arms of a patient with hemiataxia, th...

journal_title：Annals of neurology

authors： Angel RW

更新日期：1982-03-01 00:00:00

abstract：:A patient with longstanding Mollaret's meningitis had an increased number of circulating natural killer cells during an acute attack, as evidenced by 73% large granular lymphocytes and 80% Leu-11a-positive peripheral mononuclear cells. Numbers of large granular lymphocytes and Leu-11a-positive cells returned to normal...

journal_title：Annals of neurology

authors： Goldstein R,Guberman A,Izaguirre CA,Karsh J

更新日期：1986-09-01 00:00:00

abstract：:Multiple sclerosis patients who become pregnant experience a significant decrease in relapses that may be mediated by a shift in immune responses from T helper 1 to T helper 2. Animal models of multiple sclerosis have shown that the pregnancy hormone, estriol, can ameliorate disease and can cause an immune shift. We t...

journal_title：Annals of neurology

authors： Sicotte NL,Liva SM,Klutch R,Pfeiffer P,Bouvier S,Odesa S,Wu TC,Voskuhl RR

更新日期：2002-10-01 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：:In multiple sclerosis (MS), the influx of activated T lymphocytes into the brain parenchyma leads to the subsequent damage of oligodendrocytes, the cells that produce central nervous system (CNS) myelin. We report here that interferon beta-1b (IFNbeta-1b), a drug shown to be efficacious in the treatment of patients wi...

journal_title：Annals of neurology

authors： Stüve O,Dooley NP,Uhm JH,Antel JP,Francis GS,Williams G,Yong VW

更新日期：1996-12-01 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：:Early differential diagnosis of motor neuropathies (MN) and lower motor neuron diseases (LMND) is important, as prognosis and therapeutic approaches are different. We evaluated the diagnostic contribution of the biopsy of the motor branch of the obturator nerve and gracilis muscle in 21 consecutive patients in which, ...

journal_title：Annals of neurology

authors： Riva N,Iannaccone S,Corbo M,Casellato C,Sferrazza B,Lazzerini A,Scarlato M,Cerri F,Previtali SC,Nobile-Orazio E,Comi G,Quattrini A

更新日期：2011-01-01 00:00:00

abstract：:We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a sin...

journal_title：Annals of neurology

authors： Hand CK,Mayeux-Portas V,Khoris J,Briolotti V,Clavelou P,Camu W,Rouleau GA

更新日期：2001-02-01 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：:Imaging of cerebrovascular beta-amyloid (cerebral amyloid angiopathy) is complicated by the nearly universal overlap of this pathology with Alzheimer's pathology. We performed positron emission tomographic imaging with Pittsburgh Compound B on 42-year-old man with early manifestations of Iowa-type hereditary cerebral ...

journal_title：Annals of neurology

authors： Greenberg SM,Grabowski T,Gurol ME,Skehan ME,Nandigam RN,Becker JA,Garcia-Alloza M,Prada C,Frosch MP,Rosand J,Viswanathan A,Smith EE,Johnson KA

更新日期：2008-11-01 00:00:00

abstract：:Although the carbonic anhydrase inhibitors have been used in the treatment of the primary periodic paralyses (PPs), their efficacy has not been demonstrated in double-blind, placebo-controlled trials. Therefore, we tested the efficacy of dichlorphenamide (DCP; Daranide), a potent carbonic anhydrase inhibitor, in the t...

journal_title：Annals of neurology

authors： Tawil R,McDermott MP,Brown R Jr,Shapiro BC,Ptacek LJ,McManis PG,Dalakas MC,Spector SA,Mendell JR,Hahn AF,Griggs RC

更新日期：2000-01-01 00:00:00

abstract：:Hemophilus influenzae is the most common cause of bacterial meningitis in children, and a high percentage of survivors are at risk for long-term sequelae. To explore the mechanisms responsible for these sequelae, a neonatal rat model was used to define the behavioral, electrophysiological, and biochemical changes foll...

journal_title：Annals of neurology

authors： Konkol RJ,Chapman L,Breese GR,Collier AM,Kilts C,Finley C,Vogel RR,Mailman RB,Bendeich EG

更新日期：1987-04-01 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