Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).

abstract：OBJECTIVE:Though effective anti-human immunodeficiency virus (HIV) therapies are now available, they have variable penetration into the brain. We therefore aimed to assess changes over calendar time in the risk for HIV-associated dementia (HIV-D), and factors associated with HIV-D risk. METHODS:Using Concerted Action ...

journal_title：Annals of neurology

authors： Bhaskaran K,Mussini C,Antinori A,Walker AS,Dorrucci M,Sabin C,Phillips A,Porter K,CASCADE Collaboration.

更新日期：2008-02-01 00:00:00

abstract：:Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Ke...

journal_title：Annals of neurology

authors： Holt IJ,Harding AE,Cooper JM,Schapira AH,Toscano A,Clark JB,Morgan-Hughes JA

更新日期：1989-12-01 00:00:00

abstract：:We describe 5 patients who presented with an acute cauda equina syndrome, which we believe was due to infarction of the conus medullaris. In 3 patients, the onset was spontaneous, and in 2 patients it was secondary to temporary occlusion of the distal aorta during medical manipulation. Pain in the buttocks and posteri...

journal_title：Annals of neurology

authors： Anderson NE,Willoughby EW

更新日期：1987-05-01 00:00:00

abstract：:Human T-cell lymphotropic virus type III (HTLV-III) has been isolated from neural tissues and cerebrospinal fluid (CSF) of patients with neurological syndromes associated with the acquired immune deficiency syndrome (AIDS) and the virus may be directly involved in the pathogenesis of the syndromes. To detect HTLV-III ...

journal_title：Annals of neurology

authors： Gabuzda DH,Ho DD,de la Monte SM,Hirsch MS,Rota TR,Sobel RA

更新日期：1986-09-01 00:00:00

abstract：:We report thirty-three patients with alternating skew deviation on lateral gaze. The right eye was hypertropic in right gaze, and the left eye was hypertropic in left gaze. Most patients had associated downbeat nystagmus and ataxia and were diagnosed as having lesions of the cerebellar pathways or the cervicomedullary...

journal_title：Annals of neurology

authors： Moster ML,Schatz NJ,Savino PJ,Benes S,Bosley TM,Sergott RC

更新日期：1988-02-01 00:00:00

abstract：:Eighty-three patients with epidural spinal cord compression, from metastatic cancer were treated with high-dose adrenocorticosteroids and a new radiation fractionation protocol. Only those patients were included who had complete or almost complete block on myelography and who had not received prior radiation therapy t...

journal_title：Annals of neurology

authors： Greenberg HS,Kim JH,Posner JB

更新日期：1980-10-01 00:00:00

abstract：OBJECTIVE:To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). METHODS:In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with p...

journal_title：Annals of neurology

authors： Nakamori M,Sobczak K,Puwanant A,Welle S,Eichinger K,Pandya S,Dekdebrun J,Heatwole CR,McDermott MP,Chen T,Cline M,Tawil R,Osborne RJ,Wheeler TM,Swanson MS,Moxley RT 3rd,Thornton CA

更新日期：2013-12-01 00:00:00

abstract：:Concanavalin A (Con A)-activated suppressor cell activity was determined in multiple sclerosis (MS) patients who had been assigned to one of three subgroups, those with active disease, those recovering from a flare-up, and those with stable disease. The level of suppression induced by the Con A-activated suppressor ce...

journal_title：Annals of neurology

authors： Antel JP,Arnason BG,Medof ME

更新日期：1979-04-01 00:00:00

abstract：:To characterize the protein composition of degenerating neurons in Alzheimer disease, enriched fractions of isolated cortical neurons from postmortem Alzheimer brain were compared by ultrastructural and biochemical techniques to neuronal isolates from aged normal controls and from patients with the nonfibrillary degen...

journal_title：Annals of neurology

authors： Selkoe DJ

更新日期：1980-11-01 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：: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：:We measured the intrinsic mechanical properties and protein content of single skinned muscle fibers obtained from patients who had Duchenne muscular dystrophy. To check for possible nonspecific changes caused by muscle disease per se, we also studied the properties of muscle fibers obtained from patients exhibiting se...

journal_title：Annals of neurology

authors： Horowits R,Dalakas MC,Podolsky RJ

更新日期：1990-06-01 00:00:00

abstract：:We examined the expression of Fas antigen and Bcl-2 protein in thymic tissue surgically resected from 10 patients with myasthenia gravis, using immunocytochemical techniques. Histologically, thymic tissues from 7 myasthenia gravis patients showed hyperplasia, while 3 other patients had thymomas. In hyperplastic thymic...

journal_title：Annals of neurology

authors： Onodera J,Nakamura S,Nagano I,tobita M,Yoshioka M,Takeda A,Oouchi M,Itoyama Y

更新日期：1996-04-01 00:00:00

abstract：:To investigate the clinical features of transient cerebral hypoxia, syncope was induced in 56 of 59 healthy volunteers through a sequence of hyperventilation, orthostasis, and Valsalva maneuver. All events were monitored on video by two cameras. Complete syncope with falling and loss of consciousness was observed in 4...

journal_title：Annals of neurology

authors： Lempert T,Bauer M,Schmidt D

更新日期：1994-08-01 00:00:00

abstract：:There is increasing interest in the potential of dopamine agonists to provide a neuroprotective effect and to alter the natural course of levodopa-treated Parkinson's disease (PD). Theoretically, such a protective effect might derive from (a) a levodopa sparing effect, (b) stimulation dopamine autoreceptors resulting ...

journal_title：Annals of neurology

authors： Olanow CW,Jenner P,Brooks D

更新日期：1998-09-01 00:00:00

abstract：:A previously healty 43-year-old woman developed bilateral middle cerebral artery occlusion, thrombocytopenia, and multiple thrombi of arteries in the spleen. No underlying cause of her thrombotic disease was detected except for a factor VIII level that was elevated fivefold. An etiological relationship between the cer...

journal_title：Annals of neurology

authors： Kosik KS,Furie B

更新日期：1980-10-01 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：:A nested polymerase chain reaction was used for the detection of Epstein-Barr virus DNA in 1 patient with encephalitis, and in 1 patient with myelitis. Epstein-Barr virus DNA was detected in cerebrospinal fluid samples obtained at the onset of neurological symptoms in both patients, and serological findings indicated ...

journal_title：Annals of neurology

authors： Landgren M,Kyllerman M,Bergström T,Dotevall L,Ljungström L,Ricksten A

更新日期：1994-05-01 00:00:00

abstract：:In adult brain, during insulin-induced hypoglycemia, striatal extracellular fluid concentrations of the excitatory amino acids glutamate and aspartate rise markedly (fourfold to tenfold). In this study, we used in vivo microdialysis to determine if insulin-induced hypoglycemia altered striatal amino acid efflux in sim...

journal_title：Annals of neurology

authors： Silverstein FS,Simpson J,Gordon KE

更新日期：1990-10-01 00:00:00

abstract：:A patient with generalized convulsions noted that seizures were reliably precipitated by mental arithmetic. The interictal electroencephalogram revealed only a mild, diffuse, nonspecific disturbance, but bursts of generalized epileptiform activity with no obvious clinical expression accompanied efforts at mental arith...

journal_title：Annals of neurology

authors： Wilkins AJ,Zifkin B,Andermann F,McGovern E

更新日期：1982-06-01 00:00:00

abstract：OBJECTIVE:To determine whether brain activation changes in clinically and neurocognitively normal human immunodeficiency virus (HIV)-infected and in HIV-seronegative control (SN) participants over a 1-year period. METHODS:Functional magnetic resonance imaging (fMRI) was performed in 32 SN and 31 HIV patients (all with...

journal_title：Annals of neurology

authors： Ernst T,Yakupov R,Nakama H,Crocket G,Cole M,Watters M,Ricardo-Dukelow ML,Chang L

更新日期：2009-03-01 00:00:00

abstract：:Macrophages are prominent participants in inflammatory demyelinating neuropathies. To provide a different means of evaluating macrophage behavior, we used immunostaining of teased nerve fibers and endoneurial blood vessels. We assessed the frequency with which macrophages were seen in inflammatory demyelinating neurop...

journal_title：Annals of neurology

authors： Griffin JW,Stoll G,Li CY,Tyor W,Cornblath DR

更新日期：1990-01-01 00:00:00

abstract：:alpha 1-Antichymotrypsin (ACT) is a serine protease inhibitor that is markedly elevated in the serum and cerebrospinal fluid of patients with Alzheimer's disease (AD). Patients with Down's syndrome are known to develop neuropathological changes of AD by age 40 years and many become demented. Therefore, in the present ...

journal_title：Annals of neurology

authors： Brugge K,Katzman R,Hill LR,Hansen LA,Saitoh T

更新日期：1992-08-01 00:00:00

abstract：:The effects on cerebral hemodynamics of venisection and a 4% albumin-saline infusion were studied in six patients with high hematocrit (mean, 51.5%). Cerebral blood flow (CBF) was measured using the xenon 133 intracarotid injection method. Blood gases were measured in arterial and jugular venous blood. Rapid two-stage...

journal_title：Annals of neurology

authors： Henriksen L,Paulson OB,Smith RJ

更新日期：1981-05-01 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：:Previous studies using two seizure paradigms, electroconvulsive shock and kindling, suggested potential sites of endogenous thyrotropin-releasing hormone (TRH) action in specific epileptogenic areas. We studied TRH gene expression and TRH receptors in rat limbic areas using the kindling model of epilepsy. Immunoassaya...

journal_title：Annals of neurology

authors： Kubek MJ,Knoblach SM,Sharif NA,Burt DR,Buterbaugh GG,Fuson KS

更新日期：1993-01-01 00:00:00

abstract：:Thalamic degeneration was present in 5 autopsied cases of X-chromosome-linked copper malabsorption (X-cLCM), Menkes' kinky hair disease. Among the thalamic nuclei, those in the formatio paraventricularis, intralamellaris, and extralamellaris were spared. The nuclei projecting to the granular cortices had severe neuron...

journal_title：Annals of neurology

authors： Iwata M,Hirano A,French JH

更新日期：1979-04-01 00:00:00

abstract：:One of the most striking manifestations of Down's syndrome is profound mental retardation. Furthermore, after 35 years of age, many patients with Down's syndrome develop clinical and pathological features of Alzheimer's disease. Since brains of patients with Alzheimer's disease show significant loss of neurons in the ...

journal_title：Annals of neurology

authors： Casanova MF,Walker LC,Whitehouse PJ,Price DL

更新日期：1985-09-01 00:00:00

abstract：:The activities of monoacylglycerol and diacylglycerol lipases were 6 to 8 times higher in plasma membrane and synaptosomal plasma membrane fractions of nucleus basalis from patients with Alzheimer's disease than in those membranes from normal human brains. Membranes from the hippocampus region of Alzheimer-affected br...

journal_title：Annals of neurology

authors： Farooqui AA,Liss L,Horrocks LA

更新日期：1988-03-01 00:00:00

abstract：:Saturated very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high-performance liquid chromatography. Ratios of C26:0 to...

journal_title：Annals of neurology

authors： Antoku Y,Koike F,Ohtsuka Y,Sakai T,Tsukamoto K,Nagara H,Iwashita H,Goto I

更新日期：1991-07-01 00:00:00