McArdle's disease: biochemical and molecular genetic studies.


:We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studied by SDS-PAGE and immunoblot, and 41 of the 48 patients studied by ELISA had no detectable enzyme protein. Six patients had markedly decreased phosphorylase protein by all three assays, and only 1 patient had a normal amount of protein. No apparent correlation existed between the presence or absence of enzyme protein and the clinical presentation or muscle glycogen concentration. Northern analysis was performed on muscle RNA in 4 patients: messenger RNA was normal in 2, abnormally short in 1, and absent in the fourth, indicating heterogeneity of the molecular lesion in McArdle's disease.


Ann Neurol


Annals of neurology


Servidei S,Shanske S,Zeviani M,Lebo R,Fletterick R,DiMauro S




Has Abstract


1988-12-01 00:00:00












  • Ocular flutter associated with a localized lesion in the paramedian pontine reticular formation.

    abstract::Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. It has been hypothesized that it is caused by loss of "pause" neuronal inhibition of "burst" neuron function in the paramedian pontine reticular formation (PPRF); however, there have been no imaging studies confirmi...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Schon F,Hodgson TL,Mort D,Kennard C

    更新日期:2001-09-01 00:00:00

  • Endoneurial fluid pressure in wallerian degeneration.

    abstract::Endoneurial fluid pressure (EFP) was recorded by an active, servo-null pressure system after a glass micropipette was inserted into rat sciatic nerve undergoing wallerian degeneration. The lesions were produced by crushing the left sciatic nerve of the anesthetized animal at its point of entry into the thigh. Eighty-f...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Powell HC,Myers RR,Costello ML,Lampert PW

    更新日期:1979-06-01 00:00:00

  • Seizures during barbiturate withdrawal: relation to blood level.

    abstract::We studied 21 patients with complex partial seizures during phenobarbital (PB) or primidone withdrawal. Blood levels were measured daily, and seizure frequency was monitored by nursing staff and EEG-video telemetry. Patients were monitored for one week of baseline and for five weeks after PB tapering was initiated (wi...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Theodore WH,Porter RJ,Raubertas RF

    更新日期:1987-11-01 00:00:00

  • Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia.

    abstract::Splice-site and missense mutations have been identified in tau associated with frontotemporal dementia with parkinsonism linked to chromosome 17. In this study we assessed the genetic contribution of tau mutations to three patient series with non-Alzheimer's (non-AD) degenerative dementia. The groups included (1) a co...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Houlden H,Baker M,Adamson J,Grover A,Waring S,Dickson D,Lynch T,Boeve B,Petersen RC,Pickering-Brown S,Owen F,Neary D,Craufurd D,Snowden J,Mann D,Hutton M

    更新日期:1999-08-01 00:00:00

  • Visual dysfunctions in optic tract lesions.

    abstract::Characteristic visual symptoms and signs in 12 patients with neoplasms or aneurysms involving the optic tract are summarized. Blurred vision was the most common initial manifestation. Optic atrophy became apparent in 7 of the 12 patients. Most patients had uniocular central scotomas with reduced visual acuity, and 2 h...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Bender MB,Bodis-Wollner I

    更新日期:1978-03-01 00:00:00

  • Prediction of intracerebral hemorrhage survival.

    abstract::The Pilot Stroke Data Bank obtained information on 94 patients with intracerebral hemorrhage. These data were used to identify factors predictive of 30-day outcome from among 85 demographic, historical, clinical, and laboratory variables generally available to clinicians on the day of admission. The 9 univariate facto...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Tuhrim S,Dambrosia JM,Price TR,Mohr JP,Wolf PA,Heyman A,Kase CS

    更新日期:1988-08-01 00:00:00

  • Interictal spiking increases 2-deoxy[14C]glucose uptake and c-fos-like reactivity.

    abstract::Although interictal spikes are thought to share pathophysiological mechanisms with partial-onset seizure discharges, positron emission tomographic studies of the interictal state have paradoxically shown focal hypometabolism whereas seizures produce hypermetabolism. To address this question, we performed functional ma...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Handforth A,Finch DM,Peters R,Tan AM,Treiman DM

    更新日期:1994-06-01 00:00:00

  • Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.

    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

    pub_type: 杂志文章


    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

  • Myasthenia gravis and myasthenic syndromes.

    abstract::More than a decade ago myasthenic symptoms were observed in rabbits immunized with acetylcholine receptor (AChR) [119] and AChR deficiency was found at the neuromuscular junction in human myasthenia gravis (MG) [36]. By 1977 the autoimmune character of MG and the pathogenic role of AChR antibodies had been established...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审


    authors: Engel AG

    更新日期:1984-11-01 00:00:00

  • Impaired visual search in drivers with Parkinson's disease.

    abstract:OBJECTIVE:To assess the ability for visual search and recognition of roadside targets and safety errors during a landmark and traffic sign identification task in drivers with Parkinson's disease (PD). METHODS:Seventy-nine drivers with PD and 151 neurologically normal older adults underwent a battery of visual, cogniti...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Uc EY,Rizzo M,Anderson SW,Sparks J,Rodnitzky RL,Dawson JD

    更新日期:2006-10-01 00:00:00

  • Selective brainstem injury in an asphyxiated newborn.

    abstract::We report the clinical, radiological, and neuropathological features of selective brainstem injury in an asphyxiated term infant. Disproportionate injury to thalamus, basal ganglia, and brainstem with relative sparing of cortex and subcortical white matter is observed occasionally after acute total asphyxia. Although ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Roland EH,Hill A,Norman MG,Flodmark O,MacNab AJ

    更新日期:1988-01-01 00:00:00

  • Mesulergine (CU32-085) in the treatment of Parkinson's disease.

    abstract::Twenty patients with Parkinson's disease were treated with the 8-alpha-ergoline derivative mesulergine. Participants were divided into two groups, and over a nine-week period, mesulergine dosage was increased to a maximum of either 10 or 20 mg daily. During this time levodopa-carbidopa (LD-CD) dosage was reduced and t...

    journal_title:Annals of neurology

    pub_type: 临床试验,杂志文章


    authors: Pfeiffer RF,Wilken K,Glaeske C

    更新日期:1985-04-01 00:00:00

  • Development and Validation of Forecasting Next Reported Seizure Using e-Diaries.

    abstract:OBJECTIVE:There are no validated methods for predicting the timing of seizures. Using machine learning, we sought to forecast 24-hour risk of self-reported seizure from e-diaries. METHODS:Data from 5,419 patients on (including seizure count, type, and duration) were split into training (3,806 patien...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Goldenholz DM,Goldenholz SR,Romero J,Moss R,Sun H,Westover B

    更新日期:2020-09-01 00:00:00

  • Absence of N-acetylaspartate in the human brain: impact on neurospectroscopy?

    abstract::N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Martin E,Capone A,Schneider J,Hennig J,Thiel T

    更新日期:2001-04-01 00:00:00

  • Infantile spasms: II. Lenticular nuclei and brain stem activation on positron emission tomography.

    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

    pub_type: 杂志文章


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

    更新日期:1992-02-01 00:00:00

  • Analysis of cerebrospinal fluid from chronic fatigue syndrome patients for multiple human ubiquitous viruses and xenotropic murine leukemia-related virus.

    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

    pub_type: 杂志文章


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

    更新日期:2011-04-01 00:00:00

  • New innovations: therapeutic opportunities for intellectual disabilities.

    abstract::Intellectual disability is common and is associated with significant morbidity. Until the latter half of the 20th century, there were no efficacious treatments. Following initial breakthroughs associated with newborn screening and metabolic corrections, little progress was made until recently. With improved understand...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审


    authors: Picker JD,Walsh CA

    更新日期:2013-09-01 00:00:00

  • Perinatal risk factors in children with serious motor and mental handicaps.

    abstract::Fifty children with marked neurological abnormality manifested by moderate or severe motor disability and severe mental retardation were compared with a large control population with respect to prospectively ascertained perinatal characteristics. None of 60 prenatal factors distinguished the affected group from contro...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Nelson KB,Broman SH

    更新日期:1977-11-01 00:00:00

  • Mollaret's meningitis: a case with increased circulating natural killer cells.

    abstract::A patient with longstanding Mollaret's meningitis had an increased number of circulating natural killer cells during an acute attack, as evidenced by 73% large granular lymphocytes and 80% Leu-11a-positive peripheral mononuclear cells. Numbers of large granular lymphocytes and Leu-11a-positive cells returned to normal...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Goldstein R,Guberman A,Izaguirre CA,Karsh J

    更新日期:1986-09-01 00:00:00

  • Heterogeneity of human skeletal muscle tropomyosin.

    abstract::Six polypeptides resolved by two-dimensional electrophoresis of homogenates from human skeletal muscle have been identified as tropomyosin by electrophoretic and immunochemical methods. The 6 proteins are consistently present in approximately the same abundance in normal biceps, deltoid, gastrocnemius, and quadriceps ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Giometti CS,Danon MJ

    更新日期:1985-08-01 00:00:00

  • An enzyme-linked immunosorbent assay to quantify 14-3-3 proteins in the cerebrospinal fluid of suspected Creutzfeldt-Jakob disease patients.

    abstract::The detection of 14-3-3 protein by Western immunoblot is a sensitive and specific cerebrospinal fluid marker of Creutzfeldt-Jakob disease (CJD). We developed a quantitative enzyme-linked immunosorbent assay (ELISA) that reliably detects 14-3-3 in cerebrospinal fluid. In a prospective study of 147 cerebrospinal fluid s...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Kenney K,Brechtel C,Takahashi H,Kurohara K,Anderson P,Gibbs CJ Jr

    更新日期:2000-09-01 00:00:00

  • Splicing biomarkers of disease severity in myotonic dystrophy.

    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

    pub_type: 杂志文章


    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

  • Remyelination following viral-induced demyelination: ferric ion-ferrocyanide staining of nodes of Ranvier within the CNS.

    abstract::Ferric ion-ferrocyanide (Fe-FeCN) staining was used to stain nodes of Ranvier in remyelinating central nervous system (CNS) axons following viral-induced demyelination. As at normal nodes, Fe-FeCN staining was observed on the cytoplasmic surface of the nodal axolemma of remyelinated fibers. These fibers were identifie...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Weiner LP,Waxman SG,Stohlman SA,Kwan A

    更新日期:1980-12-01 00:00:00

  • Role of infection in Guillain-Barré syndrome: laboratory confirmation of herpesviruses in 41 cases.

    abstract::Serological evidence of either acute cytomegalovirus (CMV) or Epstein-Barr virus (EBV) infection was sought in a large series of patients with Guillain-Barré syndrome (GBS) and control subjects. Using an indirect immunofluorescent technique, IgM antibody directed against CMV was found in the serum of 33 of 220 GBS pat...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Dowling PC,Cook SD

    更新日期:1981-01-01 00:00:00

  • Electrophysiology in Guillain-Barré syndrome.

    abstract::Clinical electrophysiological studies are important in the evaluation of patients with Guillain-Barré syndrome. Physiological evidence of demyelination occurs in almost all patients with Guillain-Barré syndrome, especially if serial studies are performed. Criteria for demyelination are proposed. Prognostic information...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审


    authors: Cornblath DR

    更新日期:1990-01-01 00:00:00

  • Why have we failed to achieve neuroprotection in Parkinson's disease?

    abstract::The development of a neuroprotective therapy that slows, stops, or reverses neurodegeneration in Parkinson's disease (PD) is the single most important unresolved issue in the management of this disorder. Current therapies provide effective control of symptoms, particularly in the early stages of the disease, but disea...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审


    authors: Olanow CW,Kieburtz K,Schapira AH

    更新日期:2008-12-01 00:00:00

  • Prospective magnetic resonance imaging identification of focal cortical dysplasia, including the non-balloon cell subtype.

    abstract::The purpose of this study was to determine the role of high-resolution T2-weighted fast multiplanar inversion-recovery (FMPIR) magnetic resonance (MR) imaging in detecting and delineating microscopic focal cortical dysplasia (FCD). We performed MR scans with FMPIR on 42 patients with suspected neocortical epilepsy. Te...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Chan S,Chin SS,Nordli DR,Goodman RR,DeLaPaz RL,Pedley TA

    更新日期:1998-11-01 00:00:00

  • Mitochondrial dysfunction in distal axons contributes to human immunodeficiency virus sensory neuropathy.

    abstract:OBJECTIVE:Accumulation of mitochondrial DNA (mtDNA) damage has been associated with aging and abnormal oxidative metabolism. We hypothesized that in human immunodeficiency virus-associated sensory neuropathy (HIV-SN), damaged mtDNA accumulates in distal nerve segments, and that a spatial pattern of mitochondrial dysfun...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Lehmann HC,Chen W,Borzan J,Mankowski JL,Höke A

    更新日期:2011-01-01 00:00:00

  • Mycoplasma pneumoniae triggering the Guillain-Barré syndrome: A case-control study.

    abstract:OBJECTIVE:Guillain-Barré syndrome (GBS) is an acute postinfectious immune-mediated polyneuropathy. Although preceding respiratory tract infections with Mycoplasma pneumoniae have been reported in some cases, the role of M. pneumoniae in the pathogenesis of GBS remains unclear. We here cultured, for the first time, M. p...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Meyer Sauteur PM,Huizinga R,Tio-Gillen AP,Roodbol J,Hoogenboezem T,Jacobs E,van Rijn M,van der Eijk AA,Vink C,de Wit MC,van Rossum AM,Jacobs BC

    更新日期:2016-10-01 00:00:00

  • Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.

    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

    pub_type: 杂志文章


    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