Inflammatory intrathecal profiles and cortical damage in multiple sclerosis.

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：:Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the SLC25A19 gene that encodes the mitochondrial thiamine pyrophosph...

journal_title：Annals of neurology

authors： Spiegel R,Shaag A,Edvardson S,Mandel H,Stepensky P,Shalev SA,Horovitz Y,Pines O,Elpeleg O

更新日期：2009-09-01 00:00:00

abstract：:Infantile spasms are generalized seizures specific to early infancy, and are believed to result from complex cortical-subcortical interactions during a critical period of development. We used positron emission tomography (PET) to determine local cerebral metabolic rates for glucose (1CMRG1c) in 44 infants with spasms,...

journal_title：Annals of neurology

authors： Chugani HT,Shewmon DA,Sankar R,Chen BC,Phelps ME

更新日期：1992-02-01 00:00:00

abstract：:Most clinically demented elderly patients are found at autopsy to have Alzheimer's disease, multi-infarct dementia, Parkinson's disease, Pick's disease, or Creutzfeldt-Jakob disease. We studied 5 patients clinically characterized by late onset dementia whose brains showed no pathological evidence of Alzheimer's diseas...

journal_title：Annals of neurology

authors： Masliah E,Hansen LA,Quijada S,DeTeresa R,Alford M,Kauss J,Terry R

更新日期：1991-04-01 00:00:00

abstract：:In 2006, Yamanaka's group pioneered a method for reprogramming somatic cells by introducing definite transcription factors, which enabled the generation of induced pluripotent stem cells (iPSCs) with pluripotency comparable to that of embryonic stem cells. These iPSCs are attracting considerable attention for their po...

journal_title：Annals of neurology

authors： Ito D,Okano H,Suzuki N

更新日期：2012-08-01 00:00:00

abstract：:We previously reported that the monoclonal antibody Alz-50 recognizes a protein (A68) with an apparent molecular weight of 68,000 daltons in the brains of patients who died with Alzheimer's disease, but not in brain tissue from individuals free of neurological disease. We now report that substantial quantities of this...

journal_title：Annals of neurology

authors： Wolozin B,Davies P

更新日期：1987-10-01 00:00:00

abstract：OBJECTIVE:Whether intracerebral hemorrhage (ICH) associated with non-vitamin K antagonist oral anticoagulants (NOAC-ICH) has a better outcome compared to ICH associated with vitamin K antagonists (VKA-ICH) is uncertain. METHODS:We performed a systematic review and individual patient data meta-analysis of cohort studie...

journal_title：Annals of neurology

authors： Tsivgoulis G,Wilson D,Katsanos AH,Sargento-Freitas J,Marques-Matos C,Azevedo E,Adachi T,von der Brelie C,Aizawa Y,Abe H,Tomita H,Okumura K,Hagii J,Seiffge DJ,Lioutas VA,Traenka C,Varelas P,Basir G,Krogias C,Purrucke

更新日期：2018-11-01 00:00:00

abstract：:Tetrabenazine is considered to act in a manner similar to reserpine to reduce the involuntary movements of tardive dyskinesia or Huntington's disease and to improve psychoses. We determined that tetrabenazine also has properties of a dopamine receptor antagonist by testing the ability of tetrabenazine to block the inh...

journal_title：Annals of neurology

authors： Login IS,Cronin MJ,MacLeod RM

更新日期：1982-09-01 00:00:00

abstract：OBJECTIVE:To determine the presence and kinetics of antibodies against synaptic proteins in patients with herpes simplex virus encephalitis (HSE). METHODS:Retrospective analysis of 44 patients with polymerase chain reaction-proven HSE for the presence of a large panel of onconeuronal and synaptic receptor antibodies. ...

journal_title：Annals of neurology

authors： Prüss H,Finke C,Höltje M,Hofmann J,Klingbeil C,Probst C,Borowski K,Ahnert-Hilger G,Harms L,Schwab JM,Ploner CJ,Komorowski L,Stoecker W,Dalmau J,Wandinger KP

更新日期：2012-12-01 00:00:00

abstract：:Five patients with rapidly evolving, severe weakness had an unusual myopathy with virtually complete loss of myosin in 5 to 40% of muscle fibers. Three of the 5 patients began to develop weakness 1 to 2 weeks after lung transplantation. The fourth became weak after a febrile illness. The fifth presented with diabetic ...

journal_title：Annals of neurology

authors： al-Lozi MT,Pestronk A,Yee WC,Flaris N,Cooper J

更新日期：1994-03-01 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：:Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10...

journal_title：Annals of neurology

authors： Pegoraro E,Mancias P,Swerdlow SH,Raikow RB,Garcia C,Marks H,Crawford T,Carver V,Di Cianno B,Hoffman EP

更新日期：1996-11-01 00:00:00

abstract：:The mechanism by which iron enters the central nervous system from the blood is not well understood. Iron in blood plasma is totally bound to transferrin (Tf), a major plasma glycoprotein. Tf receptors are present on the blood-brain barrier (BBB) endothelium. It is not known whether iron separates from Tf during its p...

journal_title：Annals of neurology

authors： Roberts R,Sandra A,Siek GC,Lucas JJ,Fine RE

更新日期：1992-01-01 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:Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the c...

journal_title：Annals of neurology

authors： Moawia A,Shaheen R,Rasool S,Waseem SS,Ewida N,Budde B,Kawalia A,Motameny S,Khan K,Fatima A,Jameel M,Ullah F,Akram T,Ali Z,Abdullah U,Irshad S,Höhne W,Noegel AA,Al-Owain M,Hörtnagel K,Stöbe P,Baig SM,Nürnberg P

更新日期：2017-10-01 00:00:00

abstract：:Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...

journal_title：Annals of neurology

authors： Becher MW,Kotzuk JA,Davis LE,Bear DG

更新日期：2000-11-01 00:00:00

abstract：:Fourteen children with brain tumors received endocrine evaluations at least one year following completion of cranial irradiation. Treatment consisted of operation (13 patients), craniospinal irradiation (6), whole brain irradiation (5), posterior fossa irradiation (3), and chemotherapy (10). Endocrine evaluation inclu...

journal_title：Annals of neurology

authors： Duffner PK,Cohen ME,Anderson SW,Voorhess ML,MacGillivray MH,Panahon A,Brecher ML

更新日期：1983-11-01 00:00:00

abstract：:Alexander's law refers to the phenomenon in which the spontaneous nystagmus of a patient with a vestibular lesion is more intense when the patient looks in the quick-phase than in the slow-phase direction. Alexander's law was investigated in normal subjects as well as patients with vestibular lesions. During sinusoida...

journal_title：Annals of neurology

authors： Robinson DA,Zee DS,Hain TC,Holmes A,Rosenberg LF

更新日期：1984-12-01 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：OBJECTIVE:Cerebral aneurysms can cause substantial morbidity and mortality, specifically if they rupture, leading to nontraumatic subarachnoid hemorrhage (SAH). This meta-analysis summarizes evidence about the accuracy of noninvasive computed tomographic (CT) angiography for diagnosing intracranial aneurysms in symptom...

journal_title：Annals of neurology

authors： Menke J,Larsen J,Kallenberg K

更新日期：2011-04-01 00:00:00

abstract：OBJECTIVE:Cortical spreading depolarizations (CSDs) are intense and ubiquitous depolarization waves relevant for the pathophysiology of migraine and brain injury. CSDs disrupt the blood-brain barrier (BBB), but the mechanisms are unknown. METHODS:A total of six CSDs were evoked over 1 hour by topical application of 30...

journal_title：Annals of neurology

authors： Sadeghian H,Lacoste B,Qin T,Toussay X,Rosa R,Oka F,Chung DY,Takizawa T,Gu C,Ayata C

更新日期：2018-09-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a lethal degenerative disorder of motoneurons, which may occur concurrently with frontotemporal dementia. Genetic analyses of the ∼10% of ALS cases that are dominantly inherited provide insight into ALS pathobiology. Two broad themes are evident. One, prompted by investigations o...

journal_title：Annals of neurology

authors： Sreedharan J,Brown RH Jr

更新日期：2013-09-01 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 object of this study was to determine the concordance of the anatomical location of interictal magnetoencephalographic (MEG) spike foci with the location of ictal onset zones identified by invasive ictal intracranial electroencephalographic recordings in children undergoing evaluation for epilepsy surgery. MEG was...

journal_title：Annals of neurology

authors： Minassian BA,Otsubo H,Weiss S,Elliott I,Rutka JT,Snead OC 3rd

更新日期：1999-10-01 00:00:00

abstract：:Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, neuronatin-mediated endoplasmic reticulum stress, and the laforin glycogen phosphatase. Mal...

journal_title：Annals of neurology

authors： Turnbull J,Epp JR,Goldsmith D,Zhao X,Pencea N,Wang P,Frankland PW,Ackerley CA,Minassian BA

更新日期：2014-03-01 00:00:00

abstract：:We explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe structures in patients with temporal lobe epilepsy [correction]. Uptake of 18F-fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory ...

journal_title：Annals of neurology

authors： Weintrob DL,Saling MM,Berkovic SF,Berlangieri SU,Reutens DC

更新日期：2002-04-01 00:00:00

abstract：:Bilateral ptosis is reported with unilateral hemispheric lesions, suggesting partial lateralization of the control of the levator palpebrae superioris. There is a tight synkinesis between vertical eye and eyelid movements, but a similar, lateralized control of vertical gaze has not been previously described. We report...

journal_title：Annals of neurology

authors： Averbuch-Heller L,Stahl JS,Remler BF,Leigh RJ

更新日期：1996-09-01 00:00:00

abstract：:An in vitro preparation has been developed in which epileptogenesis in mammalian central nervous system tissue may be studied. Addition of sodium penicillin to the medium bathing slices of guinea pig hippocampus induced epileptiform activity similar to that seen in hippocampal penicillin foci in vivo. Epileptiform eve...

journal_title：Annals of neurology

authors： Schwartzkroin PA,Prince DA

更新日期：1977-05-01 00:00:00

abstract：:Neurosurgical procedures such as the dorsal root entry zone operation, ganglionectomy, and spinal-cord stimulation have been offered to patients with intractable post-herpetic neuralgia (PHN). Poor efficacy or high morbidity have limited the overall usefulness of these procedures. We recently conducted a preliminary o...

journal_title：Annals of neurology

authors： Pappagallo M,Campbell JN

更新日期：1994-01-01 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