MELAS: clinical features, biochemistry, and molecular genetics.

abstract：:We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising m...

journal_title：Annals of neurology

authors： Poza JJ,Sáenz A,Martínez-Gil A,Cheron N,Cobo AM,Urtasun M,Martí-Massó JF,Grid D,Beckmann JS,Prud'homme JF,López de Munain A

更新日期：1999-02-01 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：: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：OBJECTIVE:The aim of the study was to assess the distribution, frequency, and specific location of mutant huntingtin protein (mHTT) aggregates-the pathological hallmark of Huntington disease (HD)-within the various compartments of the spinal cord and their potential impact on the local vasculature and blood-spinal cord...

journal_title：Annals of neurology

authors： Sciacca G,Cicchetti F

更新日期：2017-12-01 00:00:00

abstract：:Based on prior reports of free light chains of immunoglobulin G (IgG) in the cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS), we quantitated free kappa and lambda chains and whole IgG concentrations using sensitive and specific radioimmunoassays (RIAs). The RIA for free kappa chains had a sensitivit...

journal_title：Annals of neurology

authors： Rudick RA,Pallant A,Bidlack JM,Herndon RM

更新日期：1986-07-01 00:00:00

abstract：:The nucleus basalis of Meynert, which supplies diffuse cholinergic fibers to the cerebral neocortex, was investigated in two cases of parkinsonism-dementia complex of Guam (PDG). The nucleus basalis of the two PDG patients showed extensive neuron loss when compared with age-matched non-Guamanian controls, suggesting t...

journal_title：Annals of neurology

authors： Nakano I,Hirano A

更新日期：1983-01-01 00:00:00

abstract：:Striatal 18F-6-fluorodopa (FD) uptake constants were measured by positron emission tomography in (1) normal cynomolgus monkeys and (2) a series of cynomolgus and rhesus monkeys that had received intracarotid infusions of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP). After the animals were killed, the number and...

journal_title：Annals of neurology

authors： Pate BD,Kawamata T,Yamada T,McGeer EG,Hewitt KA,Snow BJ,Ruth TJ,Calne DB

更新日期：1993-09-01 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：:Systems for automatic assessment of cutaneous touch-pressure, vibratory, and thermal sensation have been developed. These systems use stimuli which are quantified and reproducible, a two-alternative forced-choice technique, and programmed steps to test, score, and report. If normal responses from series of healthy per...

journal_title：Annals of neurology

authors： Dyck PJ,Zimmerman IR,O'Brien PC,Ness A,Caskey PE,Karnes J,Bushek W

更新日期：1978-12-01 00:00:00

abstract：:The in vivo demyelinating capacity of sera from 27 patients with Guillain-Barré syndrome (GBS) and 47 other individuals was studied by intraneural injection into rat sciatic nerves. The morphological features of the nerves in cross section taken just proximal to the site of needle insertion was assessed 48 hours after...

journal_title：Annals of neurology

authors： Saida T,Saida K,Lisak RP,Brown MJ,Silberberg DH,Asbury AK

更新日期：1982-01-01 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：:Magnetic resonance imaging is a highly sensitive method for the detection of the lesions of multiple sclerosis and renders possible the study and the evolution of early lesions. Previous reports on magnetic resonance imaging following gadolinium-diethylenetriamine pentaacetic acid (Gd-DTPA) injection demonstrated that...

journal_title：Annals of neurology

authors： Katz D,Taubenberger JK,Cannella B,McFarlin DE,Raine CS,McFarland HF

更新日期：1993-11-01 00:00:00

abstract：OBJECTIVE:To design a new class of selective neuronal nitric oxide synthase (NOS) inhibitors, and demonstrate that administration in a rabbit model for cerebral palsy (CP) prevents hypoxia-ischemia-induced deaths and reduces the number of newborn kits exhibiting signs of CP. METHODS:We used a novel computer-based drug...

journal_title：Annals of neurology

authors： Ji H,Tan S,Igarashi J,Li H,Derrick M,Martásek P,Roman LJ,Vásquez-Vivar J,Poulos TL,Silverman RB

更新日期：2009-02-01 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 novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activit...

journal_title：Annals of neurology

authors： Nelson I,Hanna MG,Alsanjari N,Scaravilli F,Morgan-Hughes JA,Harding AE

更新日期：1995-03-01 00:00:00

abstract：:The activities of complex I and complex II/III in platelet mitochondria are reduced in patients with early, untreated Parkinson's disease. Coenzyme Q10 is the electron acceptor for complex I and complex II. We found that the level of coenzyme Q10 was significantly lower in mitochondria from parkinsonian patients than ...

journal_title：Annals of neurology

authors： Shults CW,Haas RH,Passov D,Beal MF

更新日期：1997-08-01 00:00:00

abstract：:A prospective study of 162 patients with adult-onset chronic epilepsy revealed 4 in whom computed tomographic scanning was the only diagnostic test that detected the presence of a surgically correctable cerebral lesion. These patients had suffered from seizures for 1 to 14 years and at the time of operation demonstrat...

journal_title：Annals of neurology

authors： Jabbari B,Huott AD,Di Chiro G,Martins AN,Youngblood LA,Harper MG

更新日期：1980-04-01 00:00:00

abstract：:Using placebo data from 3 randomized multiple sclerosis (MS) trials with uniform inclusion criteria, we investigated heterogeneity of Expanded Disability Status Scale (EDSS) progression by geographical areas. Our analysis revealed a significantly lower EDSS progression in Eastern European countries (10.8%) compared wi...

journal_title：Annals of neurology

authors： Bovis F,Signori A,Carmisciano L,Maietta I,Steinerman JR,Li T,Tansy AP,Sormani MP

更新日期：2018-10-01 00:00:00

abstract：:Cognitive and extrapyramidal effects of cholinomimetic therapy were evaluated in 8 patients with progressive supranuclear palsy. Each was randomized to a 10-day double-blind crossover trial of physostigmine and placebo. Physostigmine treatment was associated with marginal and inconsistent changes in long-term memory, ...

journal_title：Annals of neurology

authors： Litvan I,Gomez C,Atack JR,Gillespie M,Kask AM,Mouradian MM,Chase TN

更新日期：1989-09-01 00:00:00

abstract：:Ultrasound scans of three newborn infants with cerebral ischemic lesions demonstrated on computed tomographic scan showed unexpected changes in echogenicity of brain parenchyma in addition to lateralized mass effect. Areas of increased echogenicity were present adjacent to regions of infarction identified on computed ...

journal_title：Annals of neurology

authors： Wilson-Davis SL,Lo W,Filly RA

更新日期：1983-08-01 00:00:00

abstract：OBJECTIVE:The aim was to demonstrate that antibodies from patients with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis alter the levels of dopamine 1 receptor (D1R) and dopamine 2 receptor (D2R) and cause psychotic-like features in mice. METHODS:Cultured rat hippocampal neurons were treated with cerebrospinal...

journal_title：Annals of neurology

authors： Carceles-Cordon M,Mannara F,Aguilar E,Castellanos A,Planagumà J,Dalmau J

更新日期：2020-09-01 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：:We report on a 12-year-old girl with a severe subacute to chronic bifrontal leukoencephalopathy. By clinical, biochemical, radiological, and neuropathological criteria, a diagnosis of inflammatory myelinoclastic diffuse sclerosis was reached. This is the third fully documented case. ...

journal_title：Annals of neurology

authors： Mehler MF,Rabinowich L

更新日期：1988-04-01 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：: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：:A 56-year-old man was seen with subacute cerebellar degeneration and was found to have oat cell carcinoma of the lung. Antibodies to cerebellar Purkinje cells and granule cells were detected in both serum and cerebrospinal fluid (CSF), and intrathecal antibody synthesis was suggested by serum CSF antibody ratios, CSF ...

journal_title：Annals of neurology

authors： Greenlee JE,Lipton HL

更新日期：1986-01-01 00:00:00

abstract：:Discussing the problem of multiple sclerosis and viruses should not be limited to reviewing the epidemiological evidence in favor, or against, a particular candidate, such as Epstein-Barr virus or human herpes virus 6. In this text, I discuss the difficulty of going from association to causation in human epidemiology;...

journal_title：Annals of neurology

authors： Brahic M

更新日期：2010-07-01 00:00:00

abstract：OBJECTIVE:The Epi4K Consortium recently identified 4 de novo mutations in the γ-aminobutyric acid type A (GABAA ) receptor β3 subunit gene GABRB3 and 1 in the β1 subunit gene GABRB1 in children with one of the epileptic encephalopathies (EEs) Lennox-Gastaut syndrome (LGS) and infantile spasms (IS). Because the etiology...

journal_title：Annals of neurology

authors： Janve VS,Hernandez CC,Verdier KM,Hu N,Macdonald RL

更新日期：2016-05-01 00:00:00

abstract：:A predominantly sensory peripheral neuropathy is common with human immunodeficiency virus (HIV) infection, but the cause is unknown. Formalin-fixed dorsal root ganglia (DRG), obtained at postmortem from patients with neuropathy and HIV infection and from control subjects, were examined for the presence of HIV DNA by u...

journal_title：Annals of neurology

authors： Brannagan TH 3rd,Nuovo GJ,Hays AP,Latov N

更新日期：1997-09-01 00:00:00

abstract：:The unloading reflex was measured in the intrinsic muscles of the hand. By removing various fractions of the load on the muscles, we determined the size of the electromyographic response as a function of the change in the external force. This technique was applied to both hands of a patient with a pontine lesion who h...

journal_title：Annals of neurology

authors： Angel RW,Goldstein M

更新日期：1983-03-01 00:00:00