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：OBJECTIVE:To understand the mechanisms of skeletal muscle destruction and resistance to enzyme replacement therapy in Pompe disease, a deficiency of lysosomal acid alpha-glucosidase (GAA), in which glycogen accumulates in lysosomes primarily in cardiac and skeletal muscles. METHODS:We have analyzed compartments of the...

journal_title：Annals of neurology

authors： Fukuda T,Ewan L,Bauer M,Mattaliano RJ,Zaal K,Ralston E,Plotz PH,Raben N

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVE:The UCHL-1 gene is widely cited as a susceptibility factor for sporadic Parkinson's disease (PD). The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that chall...

journal_title：Annals of neurology

authors： Healy DG,Abou-Sleiman PM,Casas JP,Ahmadi KR,Lynch T,Gandhi S,Muqit MM,Foltynie T,Barker R,Bhatia KP,Quinn NP,Lees AJ,Gibson JM,Holton JL,Revesz T,Goldstein DB,Wood NW

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVES:Amyloid-beta(42) (Abeta(42)) appears central to Alzheimer's disease (AD) pathogenesis and is a major component of amyloid plaques. Mean cerebrospinal fluid (CSF) Abeta(42) is decreased in dementia of the Alzheimer's type. This decrease may reflect plaques acting as an Abeta(42) "sink," hindering transport of...

journal_title：Annals of neurology

authors： Fagan AM,Mintun MA,Mach RH,Lee SY,Dence CS,Shah AR,LaRossa GN,Spinner ML,Klunk WE,Mathis CA,DeKosky ST,Morris JC,Holtzman DM

更新日期：2006-03-01 00:00:00

abstract：OBJECTIVE:Paroxysmal hemicrania (PH) is a severe, strictly unilateral headache that lasts 2 to 30 minutes, occurs more than five times daily, is associated with trigeminal autonomic symptoms, and is exquisitely responsive to indomethacin. The purpose of the study was to determine the brain structures active in PH. MET...

journal_title：Annals of neurology

authors： Matharu MS,Cohen AS,Frackowiak RS,Goadsby PJ

更新日期：2006-03-01 00:00:00

abstract：OBJECTIVE: METHODS:We describe biochemically and clinically relevant aspects of mitochondrial ATP synthase, the enzyme that supplies most ATP for the cells energy demand. RESULTS:Analyzing human Rho zero cells we could identify three subcomplexes of ATP synthase: F1 catalytic domain, F1 domain with bound natural IF1 ...

journal_title：Annals of neurology

authors： Carrozzo R,Wittig I,Santorelli FM,Bertini E,Hofmann S,Brandt U,Schägger H

更新日期：2006-02-01 00:00:00

abstract：OBJECTIVE:To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. METHODS:We analyzed patients from five separate kindreds and characterized their periph...

journal_title：Annals of neurology

authors： Shy ME,Scavina MT,Clark A,Krajewski KM,Li J,Kamholz J,Kolodny E,Szigeti K,Fischer RA,Saifi GM,Scherer SS,Lupski JR

更新日期：2006-02-01 00:00:00

abstract：OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid...

journal_title：Annals of neurology

authors： Reed P,Porter NC,Strong J,Pumplin DW,Corse AM,Luther PW,Flanigan KM,Bloch RJ

更新日期：2006-02-01 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：OBJECTIVE:We tested the premise that cholinesterase inhibitor therapy should target butyrylcholinesterase (BuChE) in Alzheimer's disease (AD), not acetylcholinesterase (AChE) alone, because both enzymes hydrolyze acetylcholine, and BuChE is increased in AD cerebral cortex. METHODS:To examine this issue in vivo, we qua...

journal_title：Annals of neurology

authors： Kuhl DE,Koeppe RA,Snyder SE,Minoshima S,Frey KA,Kilbourn MR

更新日期：2006-01-01 00:00:00

abstract：:Despite many years of intensive research, multiple sclerosis (MS) defies understanding and treatment remains suboptimal. The prevailing hypothesis is that MS is immune mediated and that experimental allergic encephalomyelitis (EAE) is a suitable model to elucidate pathogenesis and devise therapy. This review examines ...

journal_title：Annals of neurology

authors： Sriram S,Steiner I

更新日期：2005-12-01 00:00:00

abstract：:Regular, evidence-based assignment of patients to etiologic stroke categories is essential to enable valid comparison among studies. We designed an algorithm (SSS-TOAST) that incorporated recent advances in stroke imaging and epidemiology to identify the most probable TOAST category in the presence of evidence for mul...

journal_title：Annals of neurology

authors： Ay H,Furie KL,Singhal A,Smith WS,Sorensen AG,Koroshetz WJ

更新日期：2005-11-01 00:00:00

abstract：:Epilepsy is a disease of recurrent seizures that can develop after a wide range of brain insults. Although surgical resection of focal regions of seizure onset can result in clinical improvement, the molecular mechanisms that produce and maintain focal hyperexcitability are not understood. Here, we demonstrate a regio...

journal_title：Annals of neurology

authors： Rakhade SN,Yao B,Ahmed S,Asano E,Beaumont TL,Shah AK,Draghici S,Krauss R,Chugani HT,Sood S,Loeb JA

更新日期：2005-11-01 00:00:00

abstract：:Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...

journal_title：Annals of neurology

authors： Obici L,Demarchi A,de Rosa G,Bellotti V,Marciano S,Donadei S,Arbustini E,Palladini G,Diegoli M,Genovese E,Ferrari G,Coverlizza S,Merlini G

更新日期：2005-10-01 00:00:00

abstract：:In aphasia due to stroke, language-related activity shifts not only to undamaged cortex within the dominant hemisphere but also toward right-sided areas homotopical to the left-sided lesion. We examined whether a rightward shift takes place in primary progressive aphasia (PPA). Nineteen PPA patients participated, 19 h...

journal_title：Annals of neurology

authors： Vandenbulcke M,Peeters R,Van Hecke P,Vandenberghe R

更新日期：2005-09-01 00:00:00

abstract：:Congenital amusia is a lifelong disability that prevents afflicted individuals from enjoying music as ordinary people do. The deficit is limited to music and cannot be explained by prior brain lesion, hearing loss, or any cognitive or socio-affective disturbance. Recent behavioral results suggest that this disorder is...

journal_title：Annals of neurology

authors： Peretz I,Brattico E,Tervaniemi M

更新日期：2005-09-01 00:00:00

abstract：:Axonal loss is thought to be a likely cause of persistent disability after a multiple sclerosis relapse; therefore, noninvasive in vivo markers specific for axonal loss are needed. We used optic neuritis as a model of multiple sclerosis relapse to quantify axonal loss of the retinal nerve fiber layer (RNFL) and second...

journal_title：Annals of neurology

authors： Trip SA,Schlottmann PG,Jones SJ,Altmann DR,Garway-Heath DF,Thompson AJ,Plant GT,Miller DH

更新日期：2005-09-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribe...

journal_title：Annals of neurology

authors： Grzeschik SM,Ganta M,Prior TW,Heavlin WD,Wang CH

更新日期：2005-08-01 00:00:00

abstract：:Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core...

journal_title：Annals of neurology

authors： Head RA,Brown RM,Zolkipli Z,Shahdadpuri R,King MD,Clayton PT,Brown GK

更新日期：2005-08-01 00:00:00

abstract：:Female patients experience substantial neuroprotection after experimental stroke compared with male patients, a finding attributed to the protective effects of gonadal hormones. This study examined the response of male- and female-derived organotypic hippocampal slices to oxidative and excitotoxic injury. Both oxygen ...

journal_title：Annals of neurology

authors： Li H,Pin S,Zeng Z,Wang MM,Andreasson KA,McCullough LD

更新日期：2005-08-01 00:00:00

abstract：:Various C-terminally truncated amyloid beta peptides (Abeta) are linked to Alzheimer's disease (AD) pathogenesis. Cerebrospinal fluid (CSF) concentrations of Abeta38, Abeta40, and Abeta42 were measured by enzyme-linked immunosorbent assay in 30 patients with AD and 26 control subjects. CSF Abeta42 levels was decreased...

journal_title：Annals of neurology

authors： Schoonenboom NS,Mulder C,Van Kamp GJ,Mehta SP,Scheltens P,Blankenstein MA,Mehta PD

更新日期：2005-07-01 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：:The tyrosine kinase receptor RON and its ligand, macrophage stimulating protein (MSP), exert inhibitory effects on systemic innate immunity, but their CNS expression and impact on human neuroinflammatory diseases are unknown were RON and MSP present in human brain perivascular macrophages and microglia, but RON mRNA a...

journal_title：Annals of neurology

authors： Tsutsui S,Noorbakhsh F,Sullivan A,Henderson AJ,Warren K,Toney-Earley K,Waltz SE,Power C

更新日期：2005-06-01 00:00:00

abstract：:Cerebral blood flow (CBF) velocity is decreased in patients with Alzheimer's disease. It is being debated whether this reflects diminished demand because of advanced neurodegeneration or that cerebral hypoperfusion contributes to dementia. We examined the relation of CBF velocity as measured with transcranial Doppler ...

journal_title：Annals of neurology

authors： Ruitenberg A,den Heijer T,Bakker SL,van Swieten JC,Koudstaal PJ,Hofman A,Breteler MM

更新日期：2005-06-01 00:00:00

abstract：:The ability to distinguish adaptive cortical reorganization may help to target future therapeutic strategies after neurological insult. We investigated cortical plasticity by prospectively applying visual functional magnetic resonance imaging (fMRI) and optic nerve MRI to 20 patients with acute optic neuritis at basel...

journal_title：Annals of neurology

authors： Toosy AT,Hickman SJ,Miszkiel KA,Jones SJ,Plant GT,Altmann DR,Barker GJ,Miller DH,Thompson AJ

更新日期：2005-05-01 00:00:00

abstract：:Reductions in cerebral metabolism sufficient to impair cognition in normal individuals also occur in Alzheimer's disease (AD). The degree of clinical disability in AD correlates closely to the magnitude of the reduction in brain metabolism. Therefore, we tested whether impairments in tricarboxylic acid (TCA) cycle enz...

journal_title：Annals of neurology

authors： Bubber P,Haroutunian V,Fisch G,Blass JP,Gibson GE

更新日期：2005-05-01 00:00:00

abstract：:We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques...

journal_title：Annals of neurology

authors： Ishikawa A,Piao YS,Miyashita A,Kuwano R,Onodera O,Ohtake H,Suzuki M,Nishizawa M,Takahashi H

更新日期：2005-03-01 00:00:00

abstract：:Patients are understandably anxious if seizures occur immediately after temporal lobectomy. Such "neighborhood" seizures are commonly regarded as irrelevant to seizure outcome and discounted in outcome measurement. We conducted an in-depth examination of early postoperative seizures (<28 days) and outcome. The risk of...

journal_title：Annals of neurology

authors： McIntosh AM,Kalnins RM,Mitchell LA,Berkovic SF

更新日期：2005-02-01 00:00:00

abstract：:In patients with the frontal variant of frontotemporal lobar degeneration (fv-FTLD), behavioral abnormalities may vary from apathy with motor slowness (apathetic form) to disinhibition with agitation (disinhibited form). These clinical presentations may be related to specific regional cerebral dysfunction and to defic...

journal_title：Annals of neurology

authors： Franceschi M,Anchisi D,Pelati O,Zuffi M,Matarrese M,Moresco RM,Fazio F,Perani D

更新日期：2005-02-01 00:00:00

abstract：:The need for novel, efficacious, antiseizure therapies is widely acknowledged. This study investigates in humans the feasibility, safety, and efficacy of high-frequency electrical stimulation (HFES; 100-500 Hz) triggered by automated seizure detections. Eight patients were enrolled in this study, which consisted of a ...

journal_title：Annals of neurology

authors： Osorio I,Frei MG,Sunderam S,Giftakis J,Bhavaraju NC,Schaffner SF,Wilkinson SB

更新日期：2005-02-01 00:00:00

abstract：:Intracytoplasmic aggregation of alpha-synuclein protein as Lewy bodies in the brainstem neurons is diagnostic for Parkinson's disease, whereas if this process also occurs in the cortical neurons, it is considered pathognomonic for dementia with Lewy bodies. However, the link between alpha-synuclein incorporation into ...

journal_title：Annals of neurology

authors： Parkkinen L,Kauppinen T,Pirttilä T,Autere JM,Alafuzoff I

更新日期：2005-01-01 00:00:00

abstract：:Blood gene expression profiling has been applied to a variety of hematological malignancies, autoimmune disorders, and infectious diseases. This study applies this approach to genetic diseases without obvious blood phenotypes. Three genetic diseases including tuberous sclerosis complex 2, neurofibromatosis type 1, and...

journal_title：Annals of neurology

authors： Tang Y,Schapiro MB,Franz DN,Patterson BJ,Hickey FJ,Schorry EK,Hopkin RJ,Wylie M,Narayan T,Glauser TA,Gilbert DL,Hershey AD,Sharp FR

更新日期：2004-12-01 00:00:00

abstract：:To examine the antiparkinsonian effects of blocking glycineB receptors, we designed a pilot study testing the potent and selective antagonist, PAMQX, in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated primates. PAMQX had no intrinsic effects but markedly potentiated the antiparkinsonian action of levodopa. In a d...

journal_title：Annals of neurology

authors： Papa SM,Auberson YP,Greenamyre JT

更新日期：2004-11-01 00:00:00

abstract：:The term Charcot-Wilbrand syndrome (CWS) denotes dream loss following focal brain damage. We report the first case of CWS, in whom neuropsychological functions, extension of the underlying lesion, and sleep architecture changes were assessed. A 73-year-old woman reported a total dream loss after acute, bilateral occip...

journal_title：Annals of neurology

authors： Bischof M,Bassetti CL

更新日期：2004-10-01 00:00:00

abstract：:In diabetic nerves, the activation of the polyol pathway and a resulting decrease in Na(+)-K(+) ATPase activity lead to intra-axonal Na(+) accumulation and a smaller Na(+) gradient across the axolemma than normal. To investigate whether glycemic control is associated with acutely reversible changes in axonal excitabil...

journal_title：Annals of neurology

authors： Kitano Y,Kuwabara S,Misawa S,Ogawara K,Kanai K,Kikkawa Y,Yagui K,Hattori T

更新日期：2004-10-01 00:00:00

abstract：:We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian...

journal_title：Annals of neurology

authors： Valente EM,Salvi S,Ialongo T,Marongiu R,Elia AE,Caputo V,Romito L,Albanese A,Dallapiccola B,Bentivoglio AR

更新日期：2004-09-01 00:00:00

abstract：:PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were nove...

journal_title：Annals of neurology

authors： Hatano Y,Li Y,Sato K,Asakawa S,Yamamura Y,Tomiyama H,Yoshino H,Asahina M,Kobayashi S,Hassin-Baer S,Lu CS,Ng AR,Rosales RL,Shimizu N,Toda T,Mizuno Y,Hattori N

更新日期：2004-09-01 00:00:00

abstract：:Mutations in genes encoding the NADH ubiquinone oxidoreductase, complex I of the respiratory chain, cause a diverse group of diseases. They include Leber hereditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. There is no effective treatment for t...

journal_title：Annals of neurology

authors： Qi X,Lewin AS,Sun L,Hauswirth WW,Guy J

更新日期：2004-08-01 00:00:00

abstract：:Fuel utilization in two adult patients with the myopathic form of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and five healthy subjects was investigated with stable isotopes during exercise at 50% of VO2max. The findings indicate that residual VLCAD activity in the patients is sufficient to maintain norm...

journal_title：Annals of neurology

authors： ØRngreen MC,Nørgaard MG,Sacchetti M,van Engelen BG,Vissing J

更新日期：2004-08-01 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