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












  • Sensory discrimination capabilities in patients with focal hand dystonia.

    abstract::To explore the concept that dystonia may result from dysfunction of the sensory system, 14 patients with focal hand dystonia were tested during two somatosensory discrimination tasks. Compared with controls, patients had a higher threshold in a task involving discrimination of two electric stimuli closely related temp...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Bara-Jimenez W,Shelton P,Sanger TD,Hallett M

    更新日期:2000-03-01 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

  • Motor conduction studies in Guillain-Barré syndrome: description and prognostic value.

    abstract::The North American study of plasmapheresis in Guillain-Barré syndrome (GBS) included early, standardized electrodiagnostic testing in 210 of the 245 patients. To determine the types of abnormalities and the relation to outcome, we analyzed the prospectively collected motor conduction data obtained during the first 30 ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Cornblath DR,Mellits ED,Griffin JW,McKhann GM,Albers JW,Miller RG,Feasby TE,Quaskey SA

    更新日期:1988-04-01 00:00:00

  • Infantile neuroaxonal dystrophy and giant axonal neuropathy: are they related?

    abstract::Light and electron microscopic findings from two sural nerve biopsies obtained at a one-year interval from a patient with the clinical features of Seitelberger's disease are described. Ballooned axons with accumulations of membranous profiles, vesicles, mitochondria, and a homogeneous center were present, and there we...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Begeer JH,Houthoff HJ,van Weerden TW,de Groot CJ,Blaauw EH,le Coultre R

    更新日期:1979-12-01 00:00:00

  • Appropriate number of plasma exchanges in Guillain-Barré syndrome. The French Cooperative Group on Plasma Exchange in Guillain-Barré Syndrome.

    abstract::Plasma exchange (PE) is the standard treatment in Guillain-Barré syndrome (GBS) patients who have lost the ability to walk. The effect of exchanges before this stage and the optimal number of exchanges for the other patients are still unknown. We randomized 556 GBS patients according to severity and number of exchange...

    journal_title:Annals of neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验



    更新日期:1997-03-01 00:00:00

  • Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.

    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

    pub_type: 杂志文章


    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

  • Increased prevalence and titer of Epstein-Barr virus antibodies in patients with multiple sclerosis.

    abstract::The prevalence and titer of serum antibodies to several Epstein-Barr virus (EBV) antigens were compared among patients with multiple sclerosis, healthy siblings of multiple sclerosis patients, patients with other neurological diseases, and healthy non-blood-related subjects. Serum-cerebrospinal fluid (serum-CSF) pairs...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Sumaya CV,Myers LW,Ellison GW,Ench Y

    更新日期:1985-04-01 00:00:00

  • Stimulation of lipolytic enzymes in Alzheimer's disease.

    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

    pub_type: 杂志文章


    authors: Farooqui AA,Liss L,Horrocks LA

    更新日期:1988-03-01 00:00:00

  • Drop attacks with Menière's syndrome.

    abstract::We report the clinical features of 12 patients with drop attacks associated with Meniere's syndrome. Each described a sensation of being pushed, thrown, or knocked to the ground or a sudden illusion of movement of the environment that led to a fall. These episodes were not accompanied by symptoms of their typical atta...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Baloh RW,Jacobson K,Winder T

    更新日期:1990-09-01 00:00:00

  • The trends in incidence of primary brain tumors in the population of Rochester, Minnesota.

    abstract::A number of reports have suggested an increasing incidence of primary brain tumors, especially malignant astrocytomas, in the elderly population. To investigate this issue, we analyzed the incidence and temporal trends of primary intracranial neoplasms diagnosed in the population of Rochester, Minnesota, over the 40 y...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Radhakrishnan K,Mokri B,Parisi JE,O'Fallon WM,Sunku J,Kurland LT

    更新日期:1995-01-01 00:00:00

  • Can semiology predict psychogenic nonepileptic seizures? A prospective study.

    abstract:OBJECTIVE:Reducing health and economic burdens from diagnostic delay of psychogenic nonepileptic seizures (PNES) requires prompt referral for video electroencephalography (VEEG) monitoring, the diagnostic gold standard. Practitioners make VEEG referrals when semiology suggests PNES, although few semiological signs are ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Syed TU,LaFrance WC Jr,Kahriman ES,Hasan SN,Rajasekaran V,Gulati D,Borad S,Shahid A,Fernandez-Baca G,Garcia N,Pawlowski M,Loddenkemper T,Amina S,Koubeissi MZ

    更新日期:2011-06-01 00:00:00

  • Human immunodeficiency virus infection of dorsal root ganglion neurons detected by polymerase chain reaction in situ hybridization.

    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

    pub_type: 杂志文章


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

    更新日期:1997-09-01 00:00:00

  • Striatal dopaminergic denervation in pallidopyramidal disease demonstrated by positron emission tomography.

    abstract::Pallidopyramidal disease is a rare disease of young patients in which they manifest a parkinsonian syndrome and pyramidal signs. Pallidopyramidal disease has been attributed to a degeneration of the pallidum and the pyramidal tract, although only 1 patient has been studied postmortem. In the present report, [18F]fluor...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Remy P,Hosseini H,Degos JD,Samson Y,Agid Y,Warter JM,Vidailhet M

    更新日期:1995-12-01 00:00:00

  • Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation.

    abstract::There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffini...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Nelson KB,Grether JK,Croen LA,Dambrosia JM,Dickens BF,Jelliffe LL,Hansen RL,Phillips TM

    更新日期:2001-05-01 00:00:00

  • Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

    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

    pub_type: 杂志文章


    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

  • Hemophilus influenzae meningitis in the rat: behavioral, electrophysiological, and biochemical consequences.

    abstract::Hemophilus influenzae is the most common cause of bacterial meningitis in children, and a high percentage of survivors are at risk for long-term sequelae. To explore the mechanisms responsible for these sequelae, a neonatal rat model was used to define the behavioral, electrophysiological, and biochemical changes foll...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Konkol RJ,Chapman L,Breese GR,Collier AM,Kilts C,Finley C,Vogel RR,Mailman RB,Bendeich EG

    更新日期:1987-04-01 00:00:00

  • Detection of isolated cerebrovascular beta-amyloid with Pittsburgh compound B.

    abstract::Imaging of cerebrovascular beta-amyloid (cerebral amyloid angiopathy) is complicated by the nearly universal overlap of this pathology with Alzheimer's pathology. We performed positron emission tomographic imaging with Pittsburgh Compound B on 42-year-old man with early manifestations of Iowa-type hereditary cerebral ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Greenberg SM,Grabowski T,Gurol ME,Skehan ME,Nandigam RN,Becker JA,Garcia-Alloza M,Prada C,Frosch MP,Rosand J,Viswanathan A,Smith EE,Johnson KA

    更新日期:2008-11-01 00:00:00

  • Unusual presentation of traumatic extracranial internal carotid artery aneurysm.

    abstract::A young man presented with apparent transient ischemic attacks following a motorcycle accident in which he sustained minor injuries only. Computerized axial tomography demonstrated a small right frontal infarct, and angiography revealed an aneurysm of the right internal carotid artery in its extracranial course. This ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Bradbury PG,Lambert CD

    更新日期:1978-07-01 00:00:00

  • Polyclonal IgM anti-GM1 ganglioside antibody in patients with motor neuron disease and variants.

    abstract::Recent studies reported the presence of anti-ganglioside antibodies in occasional patients with motor neuron disease. We found polyclonal serum IgM anti-GM1 antibodies by an anti-GM1 enzyme-linked immunosorbent assay (ELISA) in 9 (19%) of 48 patients with motor neuron disease. A comparable frequency of IgM anti-GM1 an...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Salazar-Grueso EF,Routbort MJ,Martin J,Dawson G,Roos RP

    更新日期:1990-05-01 00:00:00

  • Correlations between monthly enhanced MRI lesion rate and changes in T2 lesion volume in multiple sclerosis.

    abstract::Magnetic resonance imaging (MRI) provides a powerful tool for assessing disease activity in multiple sclerosis (MS), and its role as a surrogate marker for monitoring treatment efficacy is now becoming established. The most commonly used MRI parameters in treatment trials are (1) monthly gadolinium-enhanced MRI, with ...

    journal_title:Annals of neurology

    pub_type: 杂志文章,评审


    authors: Molyneux PD,Filippi M,Barkhof F,Gasperini C,Yousry TA,Truyen L,Lai HM,Rocca MA,Moseley IF,Miller DH

    更新日期:1998-03-01 00:00:00

  • Distal neuropathy in experimental diabetes mellitus.

    abstract::Although nerve conduction slowing is a well-accepted abnormality in rats with acute experimental diabetes, reports of neuropathological changes in diabetic rat nerves have been inconsistent. To examine this further, we studied electrophysiological and morphological features of posterior tibial nerves and their distal ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Brown MJ,Sumner AJ,Greene DA,Diamond SM,Asbury AK

    更新日期:1980-08-01 00:00:00

  • Creutzfeldt-Jakob disease: patterns of worldwide occurrence and the significance of familial and sporadic clustering.

    abstract::The worldwide epidemiology of Creutzfeldt-Jakob disease (CJD) is presented from an analysis of 1,435 patients. In the United States, the average annual mortality rate is at least 0.26 deaths per million. Temporal-spatial clustering of cases was not found in the United States, but reports from other countries indicate ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Masters CL,Harris JO,Gajdusek DC,Gibbs CJ Jr,Bernoulli C,Asher DM

    更新日期:1979-02-01 00:00:00

  • Successful treatment with tocainide of recessive generalized congenital myotonia.

    abstract::A patient with recessive generalized congenital myotonia and severe, disabling weakness underwent various forms of treatment while being monitored electrophysiologically. Phenytoin, verapamil, and acetazolamide were ineffective, but tocainide yielded good results. Improvement was dose-dependent, and was limited by irr...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Streib EW

    更新日期:1986-05-01 00:00:00

  • A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.

    abstract::Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian form...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Al Mutairi F,Alzahrani F,Ababneh F,Kashgari AA,Alkuraya FS

    更新日期:2018-02-01 00:00:00

  • Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood.

    abstract::Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low ...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Arnold DL,Silver K,Andermann F

    更新日期:1993-06-01 00:00:00

  • Mesenchymal stem cells effectively modulate pathogenic immune response in experimental autoimmune encephalomyelitis.

    abstract:OBJECTIVE:To evaluate the ability of mesenchymal stem cells (MSCs), a subset of adult stem cells from bone marrow, to cure experimental autoimmune encephalomyelitis. METHODS:The outcome of the injection of MSCs, in mice immunized with the peptide 139-151 of the proteolipid protein (PLP), was studied analyzing clinical...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Gerdoni E,Gallo B,Casazza S,Musio S,Bonanni I,Pedemonte E,Mantegazza R,Frassoni F,Mancardi G,Pedotti R,Uccelli A

    更新日期:2007-03-01 00:00:00

  • Lack of association of very low density lipoprotein receptor gene polymorphism with Caucasian Alzheimer's disease.

    abstract::To determine whether the association of the very low density lipoprotein receptor (VLDL-R) gene with Alzheimer's disease (AD), which has recently been identified in Japanese AD patients, is commonly observed in AD patients of other ethnic backgrounds, we have investigated the allele frequency of the polymorphic CGG re...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Okuizumi K,Onodera O,Seki K,Tanaka H,Namba Y,Ikeda K,Saunders AM,Pericak-Vance MA,Roses AD,Tsuji S

    更新日期:1996-08-01 00:00:00

  • Subacute motor neuronopathy: a remote effect of lymphoma.

    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

    pub_type: 杂志文章


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

    更新日期:1979-03-01 00:00:00

  • Platelet-derived growth factor-alpha receptor-positive oligodendroglia are frequent in multiple sclerosis lesions.

    abstract::Platelet-derived growth factor (PDGF) ligand is a potent glial cell mitogen. When its cognate receptor (PDGF-alphaR) is expressed on oligodendroglial lineage cells, such cells are considered capable of division, and the receptor thus serves as a phenotypic marker for oligodendrocyte precursor cells. Here we identify u...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Maeda Y,Solanky M,Menonna J,Chapin J,Li W,Dowling P

    更新日期:2001-06-01 00:00:00

  • Glutamate receptor-mediated ischemic injury of premyelinated central axons.

    abstract:OBJECTIVE:Ischemic injury of axons is a feature of periventricular leukomalacia, a pathological correlate of cerebral palsy. Recent evidence suggests that axons are damaged before they receive the first layer of compact myelin. Here we examine the cellular mechanisms underlying ischemic-type injury of premyelinated cen...

    journal_title:Annals of neurology

    pub_type: 杂志文章


    authors: Alix JJ,Fern R

    更新日期:2009-11-01 00:00:00