abstract：:In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we have engineered the small interfering RNA (siRNA) which decreased th...

journal_title：Annals of neurology

authors： Li Y,Yokota T,Matsumura R,Taira K,Mizusawa H

更新日期：2004-07-01 00:00:00

abstract：:The dopamine transporter (DAT) may be the single most important determinant of extracellular dopamine concentrations. The importance of DAT in Parkinson's disease (PD) in which DAT may be reduced by 50 to 70% is unclear. We have examined the effects of methylphenidate (MPD), an inhibitor of DAT, administered alone or ...

journal_title：Annals of neurology

authors： Nutt JG,Carter JH,Sexton GJ

更新日期：2004-06-01 00:00:00

abstract：:Human prion diseases can occur as an idiopathic disorder (sporadic Creutzfeldt-Jakob disease) or can be acquired, as is the case for variant Creutzfeldt-Jakob disease. These disorders are characterized by the accumulation of a protease-resistant form of the host-encoded prion protein termed PrP(Sc) in the brains of af...

journal_title：Annals of neurology

authors： Head MW,Bunn TJ,Bishop MT,McLoughlin V,Lowrie S,McKimmie CS,Williams MC,McCardle L,MacKenzie J,Knight R,Will RG,Ironside JW

更新日期：2004-06-01 00:00:00

abstract：:Axonal degeneration is a major cause of permanent neurological deficit in multiple sclerosis (MS), but no current therapies for the disease are known to be effective at axonal protection. Here, we examine the ability of a sodium channel-blocking agent, flecainide, to reduce axonal degeneration in an experimental model...

journal_title：Annals of neurology

authors： Bechtold DA,Kapoor R,Smith KJ

更新日期：2004-05-01 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：: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：:The reported inverse association between the S18Y variant of the ubiquitin carboxy-terminal hydrolase L1 (UCHL1) gene and Parkinson's disease (PD) has strong biological plausibility. If confirmed, genetic association of this variant with PD may support molecular targeting of the UCHL1 gene and its product as a therape...

journal_title：Annals of neurology

authors： Maraganore DM,Lesnick TG,Elbaz A,Chartier-Harlin MC,Gasser T,Krüger R,Hattori N,Mellick GD,Quattrone A,Satoh J,Toda T,Wang J,Ioannidis JP,de Andrade M,Rocca WA,UCHL1 Global Genetics Consortium.

更新日期：2004-04-01 00:00:00

abstract：:Basis pontis lacunes cause contralateral but rarely ipsilateral ataxia. We explored this phenomenon with isotope tract tracing in the rhesus monkey. Labeled pontocerebellar fibers cross midline and disperse widely in the opposite hemipons before coalescing in the brachium pontis. This anatomical arrangement suggests t...

journal_title：Annals of neurology

authors： Schmahmann JD,Rosene DL,Pandya DN

更新日期：2004-04-01 00:00:00

abstract：:A primary haplotype (H1) of the microtubule-associated protein Tau (MAPT) gene is associated with Parkinson's disease (PD). However, the mechanism for disease susceptibility remains unknown. We examined the promoter region of MAPT and identified single nucleotide polymorphisms and insertions of 1 to 11 nucleotides. Th...

journal_title：Annals of neurology

authors： Kwok JB,Teber ET,Loy C,Hallupp M,Nicholson G,Mellick GD,Buchanan DD,Silburn PA,Schofield PR

更新日期：2004-03-01 00:00:00

abstract：:We sought to determine whether medullary serotonergic neurons were affected in multiple system atrophy (MSA). Immunostaining for tryptophan hydroxylase was performed on serial 50 microm sections of the medulla of brains obtained at autopsy from six control subjects, eight subjects with clinical diagnosis of MSA, and f...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM,Low PA,Parisi JE

更新日期：2004-03-01 00:00:00

abstract：:Genomic triplication of the alpha-synuclein gene recently has been associated with familial Parkinson's disease in the Spellman-Muenter kindred. Here, we present an independent family, of Swedish-American descent, with hereditary early-onset parkinsonism with dementia due to alpha-synuclein triplication. Brain tissue ...

journal_title：Annals of neurology

authors： Farrer M,Kachergus J,Forno L,Lincoln S,Wang DS,Hulihan M,Maraganore D,Gwinn-Hardy K,Wszolek Z,Dickson D,Langston JW

更新日期：2004-02-01 00:00:00

abstract：:Infection by the human immunodeficiency virus type 1 (HIV-1) often results in neurological dysfunction including HIV dementia (HIVD). Alterations in cytokine and redox balance are thought to play important roles in the pathogenesis of HIVD, but the specific mechanisms underlying neuronal dysfunction and death are unkn...

journal_title：Annals of neurology

authors： Haughey NJ,Cutler RG,Tamara A,McArthur JC,Vargas DL,Pardo CA,Turchan J,Nath A,Mattson MP

更新日期：2004-02-01 00:00:00

abstract：:In this postmortem study, we investigated the relationship between multiple sclerosis (MS) lesions in the hypothalamus and the state of activity of corticotropin-releasing hormone (CRH)-producing neurons that control the hypothalamus-pituitary-adrenal (HPA) axis. A high incidence (15/16) of MS lesions was found in the...

journal_title：Annals of neurology

authors： Huitinga I,Erkut ZA,van Beurden D,Swaab DF

更新日期：2004-01-01 00:00:00

abstract：:Detrusor hyperreflexia is a relevant clinical symptom for patients suffering from Parkinson's disease. In a series of 16 patients, we demonstrated that subthalamic deep brain stimulation has a significant and urodynamically recordable effect leading to a normalization of pathologically increased bladder sensibility. ...

journal_title：Annals of neurology

authors： Seif C,Herzog J,van der Horst C,Schrader B,Volkmann J,Deuschl G,Juenemann KP,Braun PM

更新日期：2004-01-01 00:00:00

abstract：:The long-term effects of brief but repetitive febrile seizures (FS) on memory have not been as thoroughly investigated as the impact of single and prolonged seizure in the developing brain. Using a heated-air FS paradigm, we subjected male rat pups to one, three, or nine episodes of brief FS on days 10 to 12 postpartu...

journal_title：Annals of neurology

authors： Chang YC,Huang AM,Kuo YM,Wang ST,Chang YY,Huang CC

更新日期：2003-12-01 00:00:00

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：:Growth hormone (GH) is neuroprotective, presumably through its actions on GH receptor-mediated pathways. Here, we examined the effects of GH using in vitro and in vivo assays of human immunodeficiency virus (HIV)-induced neuronal injury. Neuronal cultures were in assays of neurotoxicity induced by supernatants from HI...

journal_title：Annals of neurology

authors： Silva C,Zhang K,Tsutsui S,Holden JK,Gill MJ,Power C

更新日期：2003-11-01 00:00:00

abstract：:We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first descr...

journal_title：Annals of neurology

authors： Nicholl DJ,Greenstone MA,Clarke CE,Rizzu P,Crooks D,Crowe A,Trojanowski JQ,Lee VM,Heutink P

更新日期：2003-11-01 00:00:00

abstract：:In a prospective phase I/II clinical study, we treated eight patients suffering from recurrent glioblastoma multiform with stereotactically guided intratumoral convection-enhanced delivery of an HSV-1-tk gene-bearing liposomal vector and systemic ganciclovir. Noninvasive identification of target tissue together with a...

journal_title：Annals of neurology

authors： Voges J,Reszka R,Gossmann A,Dittmar C,Richter R,Garlip G,Kracht L,Coenen HH,Sturm V,Wienhard K,Heiss WD,Jacobs AH

更新日期：2003-10-01 00:00:00

abstract：:Successful axon regeneration depends on the expression of regeneration-associated genes by axotomized neurons. Here, we demonstrate, for the first time to our knowledge, the expression of regeneration-associated genes by axotomized human CNS neurons. In situ hybridization and immunohistochemistry showed a transient in...

journal_title：Annals of neurology

authors： Schmitt AB,Breuer S,Polat L,Pech K,Kakulas B,Love S,Martin D,Schoenen J,Noth J,Brook GA

更新日期：2003-10-01 00:00:00

abstract：:Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading fr...

journal_title：Annals of neurology

authors： Abou-Sleiman PM,Healy DG,Quinn N,Lees AJ,Wood NW

更新日期：2003-09-01 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：:To establish phenotype-genotype correlations in early-onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symmetrical onset, dyst...

journal_title：Annals of neurology

authors： Lohmann E,Periquet M,Bonifati V,Wood NW,De Michele G,Bonnet AM,Fraix V,Broussolle E,Horstink MW,Vidailhet M,Verpillat P,Gasser T,Nicholl D,Teive H,Raskin S,Rascol O,Destée A,Ruberg M,Gasparini F,Meco G,Agid Y,Du

更新日期：2003-08-01 00:00:00

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：:Unilateral lesions of the occipital visual areas performed on postnatal day 5 (P5) in the ferret are not compensated by the appearance, in the lesioned hemisphere, of visual responses at ectopic locations. Instead, when parts of the visual areas are spared, they show abnormal retinotopic organizations; furthermore, ca...

journal_title：Annals of neurology

authors： Restrepo CE,Manger PR,Spenger C,Innocenti GM

更新日期：2003-07-01 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：:We demonstrate that the 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) reductase inhibitors atorvastatin and simvastatin enhance functional outcome and induce brain plasticity when administered after stroke to rats. With atorvastatin treatment initiated 1 day after stroke, animals exhibited significant increases in ...

journal_title：Annals of neurology

authors： Chen J,Zhang ZG,Li Y,Wang Y,Wang L,Jiang H,Zhang C,Lu M,Katakowski M,Feldkamp CS,Chopp M

更新日期：2003-06-01 00:00:00

abstract：:An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the normalization of the biochemistry, there was little clinical improvement, and at 18 months of age she has severe developmental delay, a strikingly abnormal MRI. Apolip...

journal_title：Annals of neurology

authors： Wilson CJ,Priore Oliva C,Maggi F,Catapano AL,Calandra S

更新日期：2003-06-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...

journal_title：Annals of neurology

authors： van Sorge NM,van den Berg LH,Geleijns K,van Strijp JA,Jacobs BC,van Doorn PA,Wokke JH,van de Winkel JG,Leusen JH,van der Pol WL

更新日期：2003-05-01 00:00:00

abstract：:Emotional blunting can be found after cerebellar lesions. However, the mechanism of such a modification is not clear. We present a patient with emotional flattening and increased risk taking after left cerebellar infarct who had an impaired autonomic reactivity to negative as compared with positive reinforcement. This...

journal_title：Annals of neurology

authors： Annoni JM,Ptak R,Caldara-Schnetzer AS,Khateb A,Pollermann BZ

更新日期：2003-05-01 00:00:00

abstract：:There is currently no effective pharmacological treatment for amyotrophic lateral sclerosis (ALS). Because evidence suggests that multiple pathways may contribute to ALS pathogenesis, we tested in a mouse model of ALS (SOD1(G37R) mice) a combination approach consisting of three drugs for distinct targets in the comple...

journal_title：Annals of neurology

authors： Kriz J,Gowing G,Julien JP

更新日期：2003-04-01 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 Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). Yet, the pathophysiological mechanisms underlying their motor coordination deficits remain to be elucidated. Here, we show that application of IgG purified from the pati...

journal_title：Annals of neurology

authors： Coesmans M,Smitt PA,Linden DJ,Shigemoto R,Hirano T,Yamakawa Y,van Alphen AM,Luo C,van der Geest JN,Kros JM,Gaillard CA,Frens MA,de Zeeuw CI

更新日期：2003-03-01 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：:The purpose of this study was to explore the feasibility of obtaining magnetic resonance-measured cerebral metabolic rate of oxygen utilization (MR-CMRO(2)) in acute ischemic stroke patients. Seven stroke patients were serially imaged: 4.5 +/- 0.9 hours (tp1), 3 to 5 days (tp2), and 1 to 3 months (tp3) after symptom o...

journal_title：Annals of neurology

authors： Lee JM,Vo KD,An H,Celik A,Lee Y,Hsu CY,Lin W

更新日期：2003-02-01 00:00:00

abstract：:We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be...

journal_title：Annals of neurology

authors： Assmann B,Surtees R,Hoffmann GF

更新日期：2003-01-01 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：:The etiopathogenesis of Parkinson's disease (PD) has been elusive. Recently, several lines of evidence have converged to suggest that defects in the ubiquitin-proteasome system and proteolytic stress underlie nigral pathology in both familial and sporadic forms of the illness. In support of this concept, mutations in ...

journal_title：Annals of neurology

authors： McNaught KS,Olanow CW

更新日期：2003-01-01 00:00:00

abstract：:The first electrophysiological study of the human lateral geniculate nucleus (LGN), optic radiation, striate, and extrastriate visual areas is presented in the context of presurgical evaluation of three epileptic patients (Patients 1, 2, and 3). Visual-evoked potentials to pattern reversal and face presentation were r...

journal_title：Annals of neurology

authors： Krolak-Salmon P,Hénaff MA,Tallon-Baudry C,Yvert B,Guénot M,Vighetto A,Mauguière F,Bertrand O

更新日期：2003-01-01 00:00:00

abstract：:We report a patient with a meningioma presenting with Cushing's syndrome, an unprecedented paraneoplastic presentation. Molecular studies, bioassay, and high-performance liquid chromatography of tumor specimens demonstrated the synthesis and secretion of bioactive corticotropin-releasing hormone. To our knowledge, thi...

journal_title：Annals of neurology

authors： Pecori Giraldi F,Terreni MR,Andreotti C,Losa M,Lanzi R,Pontiroli AE,Cavagnini F

更新日期：2003-01-01 00:00:00