Prospective, open-label safety study of intravenous recombinant tissue plasminogen activator in wake-up stroke.

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：: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：: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：: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：:Ten patients developed a subacute lower motor neuron syndrome as a remote effect of Hodgkin's disease or other lymphoma. The illness usually followed a benign course independent of the activity of the underlying neoplasm. Seven of the patients improved spontaneously, and 3 became neurologically normal. Two patients di...

journal_title：Annals of neurology

authors： Schold SC,Cho ES,Somasundaram M,Posner JB

更新日期：1979-03-01 00:00:00

abstract：:The regional metabolic rate for glucose (rMRglu) was studied in macaque monkeys after spinal cord transection at T10, both during spinal shock and after reflexes had returned. The rMRglu was measured in all Rexed layers in cord segments both caudal and rostral to the level of the transection utilizing the quantitative...

journal_title：Annals of neurology

authors： Schwartzman RJ,Eidelberg E,Alexander GM,Yu J

更新日期：1983-07-01 00:00:00

abstract：:Four examples of grossly mineralized lesions of the brain, causing seizures, are described; they include 2 hamartomas, a choristoma (novel associations), and an idiopathic "brain stone." Each was detectable with routine roentgenograms, and the seizures were ameliorated by surgical therapy. ...

journal_title：Annals of neurology

authors： Averback P

更新日期：1977-10-01 00:00:00

abstract：OBJECTIVE:Right-handedness and left-sided language lateralization is an unresolved mystery with unknown cause/effect relations. Most studies suggest that the language lateralization is related to a fundamental brain asymmetry: right-handedness may be secondary. We analyzed the possibility of an opposite cause/effect re...

journal_title：Annals of neurology

authors： Auer T,Pinter S,Kovacs N,Kalmar Z,Nagy F,Horvath RA,Koszo B,Kotek G,Perlaki G,Koves M,Kalman B,Komoly S,Schwarcz A,Woermann FG,Janszky J

更新日期：2009-01-01 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：:Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...

journal_title：Annals of neurology

authors： Lossos A,Meiner Z,Barash V,Soffer D,Schlesinger I,Abramsky O,Argov Z,Shpitzen S,Meiner V

更新日期：1998-12-01 00:00:00

abstract：:We describe a 33-year-old homosexual man with a steroid-responsive, remitting and relapsing leukoencephalopathy associated with recent human immunodeficiency virus type 1 (HIV-1) seroconversion. Biopsy of a parieto-occipital lesion revealed demyelination and astrogliosis with focal necrosis. Detailed investigations de...

journal_title：Annals of neurology

authors： Berger JR,Tornatore C,Major EO,Bruce J,Shapshak P,Yoshioka M,Houff S,Sheremata W,Horton GF,Landy H

更新日期：1992-01-01 00:00:00

abstract：:Nineteen patients with radiologically confirmed stroke, and varying degrees of hemiparesis, were studied using somatosensory evoked potentials and the recently developed technique of transcutaneous motor cortex stimulation. The functional deficit caused by stroke was assessed at the time of evoked potential testing an...

journal_title：Annals of neurology

authors： Macdonell RA,Donnan GA,Bladin PF

更新日期：1989-01-01 00:00:00

abstract：OBJECTIVE:Acquired epilepsy is a devastating long-term risk of various brain insults, including trauma, stroke, infections, and status epilepticus (SE). There is no preventive treatment for patients at risk. Attributable to the complex alterations involved in epileptogenesis, it is likely that multitargeted approaches ...

journal_title：Annals of neurology

authors： Bar-Klein G,Klee R,Brandt C,Bankstahl M,Bascuñana P,Töllner K,Dalipaj H,Bankstahl JP,Friedman A,Löscher W

更新日期：2016-12-01 00:00:00

abstract：:Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7-month-old male infant who underwent several metabolic studies before death. Intermittent lactic acidemia and fumaric aciduria, an extreme hyperglycemic response to an intravenous bolus of alanine, and an elevated total...

journal_title：Annals of neurology

authors： DeVivo DC,Haymond MW,Obert KA,Nelson JS,Pagliara AS

更新日期：1979-12-01 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：OBJECTIVE:We aimed to determine the risk of short- and long-term stroke, as well as accidental injury, in patients discharged from an emergency department who were given a diagnosis of a peripheral vestibular disorder. METHODS:In this population-based, retrospective, cohort study, we identified all adult patients who ...

journal_title：Annals of neurology

authors： Atzema CL,Grewal K,Lu H,Kapral MK,Kulkarni G,Austin PC

更新日期：2016-01-01 00:00:00

abstract：:We measured the activities of the enzymes responsible for the metabolism of the excitotoxin quinolinic acid, 3-hydroxyanthranilate oxygenase and quinolinic acid phosphoribosyltransferase, in autopsied brain of 11 patients with olivopontocerebellar atrophy. In cerebellar cortex, severe Purkinje cell loss was evident bu...

journal_title：Annals of neurology

authors： Kish SJ,Du F,Parks DA,Robitaille Y,Ball MJ,Schut L,Hornykiewicz O,Schwarcz R

更新日期：1991-01-01 00:00:00

abstract：:Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disor...

journal_title：Annals of neurology

authors： Schutzer SE,Rounds MA,Natelson BH,Ecker DJ,Eshoo MW

更新日期：2011-04-01 00:00:00

abstract：:Inborn errors of urea synthesis can present in the newborn period as a catastrophic illness or later in childhood or adulthood with an indolent course punctuated by hyperammonemic episodes. Because symptoms mimic other neuropsychiatric disorders, it is common for there to be a delay in diagnosis, often with dire conse...

journal_title：Annals of neurology

authors： Batshaw ML

更新日期：1994-02-01 00:00:00

abstract：:Ross River virus (strain T48) infection in mice causes an encephalomyelitis characterized by focal, primary demyelination in the cerebellum, brain stem, and spinal cord. Maximal serum and brain content of virus occurs on days 2 and 4, respectively. Virus is not detectable in serum after day 3 or in brain after day 9. ...

journal_title：Annals of neurology

authors： Seay AR,Wolinsky JS

更新日期：1982-10-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy is the most common clinical presentation of JC virus (JCV)-associated central nervous system (CNS) disease and has emerged as a major safety concern in multiple sclerosis patients treated with the monoclonal antibody natalizumab. Here we report clinical, radiological, and his...

journal_title：Annals of neurology

authors： Schippling S,Kempf C,Büchele F,Jelcic I,Bozinov O,Bont A,Linnebank M,Sospedra M,Weller M,Budka H,Martin R

更新日期：2013-10-01 00:00:00

abstract：:A patient is described with the dermatological features of blue rubber bleb nevus syndrome (BRBNS), focal seizures, and lateralized neurological signs. CAT scan demonstrated a nonenhanced density in the region of the vein of Galen. Neuropathological examination showed that this density was a clot within a vein of Gale...

journal_title：Annals of neurology

authors： Waybright EA,Selhorst JB,Rosenblum WI,Suter CG

更新日期：1978-05-01 00:00:00

abstract：:Caloric vestibular testing induced nystagmus in a patient with an isoelectric electroencephalogram after cardiopulmonary arrest. This has been demonstrated previously in patients in a chronic persistent vegetative state with intact brainstem reflexes, but never in a patient with an isoelectric electroencephalogram. An...

journal_title：Annals of neurology

authors： Nayyar M,Strobos RJ,Singh BM,Brown-Wagner M,Pucillo A

更新日期：1987-01-01 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：:Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilled...

journal_title：Annals of neurology

authors： Chimowitz MI,Little JR,Awad IA,Sila CA,Kosmorsky G,Furlan AJ

更新日期：1990-05-01 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：:Patterns of cerebral metabolic intercorrelations were compared in the resting state in 15 healthy young men (ages 20 to 32 years) and 15 healthy elderly men (ages 64 to 83 years). Controlling for whole-brain glucose metabolism, partial correlation coefficients were determined between pairs of regional cerebral metabol...

journal_title：Annals of neurology

authors： Horwitz B,Duara R,Rapoport SI

更新日期：1986-01-01 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：:Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 J...

journal_title：Annals of neurology

authors： Ikeuchi T,Takano H,Koide R,Horikawa Y,Honma Y,Onishi Y,Igarashi S,Tanaka H,Nakao N,Sahashi K,Tsukagoshi H,Inoue K,Takahashi H,Tsuji S

更新日期：1997-12-01 00:00:00

abstract：:The past decade has seen advances in the management of patients with epilepsy. The development of practical long-term electroencephalographic techniques, with or without simultaneous video recording, has increased the accuracy of diagnosis of seizure types. The technique also provides clinicians and investigators with...

journal_title：Annals of neurology

authors： So EL,Penry JK

更新日期：1981-01-01 00:00:00