Sarcoplasmic body myopathy--a rare hereditary myopathy with characteristic inclusions.

Abstract:

OBJECTIVES:To characterise a Swedish family with a rare hereditary myopathy with unique sarcoplasmic inclusion bodies in the muscle biopsy. MATERIALS AND METHODS:Part of the pedigree was described in 1980. Nine new members of the included and the phenotype further characterised through clinical, neurophysiological and radiological investigations. RESULTS:Six of the nine subjects displayed clinical and/or laboratory evidence of myopathy with sarcoplasmic inclusions. CONCLUSIONS:Sarcoplasmic body myopathy is distinguished from other distal myopathies by a more malignant course and early involvement of thenar muscles and hand flexors. Five to ten years after onset the affected subjects develop distal, as well as proximal, weakness and atrophy and the majority require a wheelchair after ten to fifteen years of disease. The disorder is manifested through elevated creatine kinase levels and the presence of the pathognomonic sarcoplasmic inclusions prior to clinical signs and symptoms.

journal_name

Acta Neurol Scand

authors

Engvall M,Ahlberg G,Hedberg B,Edström L,Ansved T

doi

10.1111/j.1600-0404.2005.00475.x

subject

Has Abstract

pub_date

2005-10-01 00:00:00

pages

223-7

issue

4

eissn

0001-6314

issn

1600-0404

pii

ANE475

journal_volume

112

pub_type

杂志文章
  • Age at onset: the major determinant of outcome in Parkinson's disease.

    abstract::Factors at presentation which influenced the course of the disease and response to treatment were assessed in 125 de novo patients with Parkinson's disease. Ninety-eight patients were available for re-assessment at 5 years. Older patients presented earlier after the onset of symptoms, deteriorated more rapidly, and we...

    journal_title:Acta neurologica Scandinavica

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1111/j.1600-0404.1995.tb00480.x

    authors: Hely MA,Morris JG,Reid WG,O'Sullivan DJ,Williamson PM,Broe GA,Adena MA

    更新日期:1995-12-01 00:00:00

  • Immediate prognosis of primary intracerebral hemorrhage using an easy model for the prediction of survival.

    abstract::We reviewed the medical records and CT scans of 138 patients hospitalized for spontaneous supratentorial hemorrhage and conservatively treated. Seventeen clinico-anamnestic variables and five CT desumed findings were collected. Using univariate analysis we found eight significant predictors of 30-day mortality: intrav...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1995.tb07011.x

    authors: Masè G,Zorzon M,Biasutti E,Tasca G,Vitrani B,Cazzato G

    更新日期:1995-04-01 00:00:00

  • Dynamic F wave study in patients suffering from peripheral arterial occlusive disease.

    abstract:OBJECTIVE:To prospectively detect significant transient F wave abnormalities obtained after exercise in patients with peripheral arterial disease (PAD) and to assess the potential diagnostic sensitivity of dynamic F wave study in such a context. PATIENTS AND METHODS:A series of 40 electrical stimuli were delivered to ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2006.00725.x

    authors: Argyriou AA,Tsolakis I,Papadoulas S,Polychronopoulos P,Gourzis P,Chroni E

    更新日期:2007-02-01 00:00:00

  • Herpes simplex virus type 2 DNA detected in cerebrospinal fluid of 9 patients with Mollaret's meningitis.

    abstract::We present clinical and virological data on 9 patients, 7 women and 2 men aged 31-56 years, with recurrent aseptic meningitis (Mollaret's meningitis). Polymerase chain reaction detected Herpes simplex virus type 2 DNA in cerebrospinal fluid samples from all patients collected during their latest attacks of meningitis....

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1998.tb07296.x

    authors: Jensenius M,Myrvang B,Størvold G,Bucher A,Hellum KB,Bruu AL

    更新日期:1998-09-01 00:00:00

  • M-wave analysis and passive tilt in patients with different degrees of carotid artery disease.

    abstract:BACKGROUND AND PURPOSE:Carotid artery disease (CAD) is able to critically impair cerebral autoregulation which increases the risk for stroke. As therapeutic strategy largely depends on the degree of CAD, we investigated whether this gradation is also related to significant changes in autoregulatory capacity. We applied...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1034/j.1600-0404.2003.00210.x

    authors: Haubrich C,Klemm A,Diehl RR,Möller-Hartmann W,Klötzsch C

    更新日期:2004-03-01 00:00:00

  • Oligoclonal bands in cerebrospinal fluid: a comparative study of isoelectric focusing, agarose gel electrophoresis and IgG index.

    abstract:OBJECTIVE:To compare the sensitivity and specificity of isoelectric focusing (IEF) with immunofixation, agarose gel electrophoresis (AGE) and the IgG index in detecting intrathecally synthesized IgG in multiple sclerosis (MS) and in other nervous system disorders. MATERIALS AND METHODS:Cerebrospinal fluid (CSF) and se...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1034/j.1600-0404.2000.102005322.x

    authors: Lunding J,Midgard R,Vedeler CA

    更新日期:2000-11-01 00:00:00

  • Subjective memory decline in healthy community-dwelling elders. What does this complain mean?

    abstract:OBJECTIVES:Subjective feelings of memory decline are fairly common among the elderly. The causes of this are heterogeneous, and may be related to both affective and cognitive disorders. We attempted to explore the associations between subjective and cognitive measures. MATERIALS AND METHODS:Healthy subjects were studi...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2009.01159.x

    authors: Balash Y,Mordechovich M,Shabtai H,Merims D,Giladi N

    更新日期:2010-03-01 00:00:00

  • Brain morphology in juvenile myoclonic epilepsy and absence seizures.

    abstract:OBJECTIVE:We evaluated the differences in brain morphology among patients with juvenile myoclonic epilepsy according to the occurrence of absence seizures. MATERIALS AND METHODS:Twenty-one juvenile myoclonic epilepsy patients with (n = 6) and without (n = 15) absence seizures were enrolled. We analyzed whole-brain T1-...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12436

    authors: Park KM,Kim TH,Han YH,Mun CW,Shin KJ,Ha SY,Park JS,Kim SE

    更新日期:2016-02-01 00:00:00

  • Screening for thrombophilic risk factors among 25 German patients with cerebral venous thrombosis.

    abstract:OBJECTIVES:In this study the frequency of inherited thrombophilic risk factors in a population of German CVT patients and their influence on clinical outcome were evaluated. MATERIAL AND METHODS:Twenty-five patients (age 37.1 +/- 16.3 years) with CVT were screened for inherited coagulation disorders. All participants ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1034/j.1600-0404.2000.102001031.x

    authors: Stolz E,Kemkes-Matthes B,Pötzsch B,Hahn M,Kraus J,Wirbartz A,Kaps M

    更新日期:2000-07-01 00:00:00

  • European neuroborreliosis: quality of life 30 months after treatment.

    abstract:OBJECTIVES:The prognosis after Lyme neuroborreliosis (LNB) is debated. The aim of this study was to assess health-related Quality of Life (QoL) and neurological symptoms 30 months after treatment in European patients with LNB. MATERIALS AND METHODS:In a prospective case-control designed study, we investigated 50 well-...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2010.01482.x

    authors: Eikeland R,Mygland A,Herlofson K,Ljøstad U

    更新日期:2011-11-01 00:00:00

  • Why we prefer levetiracetam over phenytoin for treatment of status epilepticus.

    abstract::Over last fifty years, intravenous (iv) phenytoin (PHT) loading dose has been the treatment of choice for patients with benzodiazepine-resistant convulsive status epilepticus and several guidelines recommended this treatment regimen with simultaneous iv diazepam. Clinical studies have never shown a better efficacy of ...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章,评审

    doi:10.1111/ane.12928

    authors: Zaccara G,Giorgi FS,Amantini A,Giannasi G,Campostrini R,Giovannelli F,Paganini M,Nazerian P,Tuscany study group on seizures in the emergency department and status epilepticus in adults.

    更新日期:2018-06-01 00:00:00

  • Treatment of tardive dyskinesia with levetiracetam in a transplant patient.

    abstract:OBJECTIVE:To describe successful treatment of tardive dyskinesia with levetiracetam. BACKGROUND:Tardive dyskinesia is a late-onset movement disorder caused by exposure to dopamine receptor blocking agents, most commonly neuroleptics. Metoclopramide is frequently used to treat gastrointestinal dysmotility. It has antid...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2007.00950.x

    authors: Zivković SA,Costa G,Bond G,Abu-Elmagd KM

    更新日期:2008-05-01 00:00:00

  • Effect of sympathetic denervation on chronic cold injuries in rabbit brain. A microangiographical and histological study.

    abstract::Sympathetic denervation of the brain vessels was performed uni- or bilaterally in 13 adult rabbits, and cortical cold lesions were induced bilaterally 10-18 days afterwards. After a further 4-35 days the vascular and morphological changes in the lesion areas were studied histologically and with angiography. No differe...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1976.tb04801.x

    authors: West KA,Hassler O

    更新日期:1976-09-01 00:00:00

  • H-reflex changes during contractions of the ankle extensors in spastic patients.

    abstract::Soleus H-reflexes during tonic contractions and isometric ramp contractions of the ankle extensors in spastic and healthy subjects were measured. During the tonic contractions, the H-reflex increased with the contraction level. The increase was highest in the patients (p < 0.001). The facilitation of the H-reflex duri...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1993.tb05352.x

    authors: Toft E,Sinkjaer T

    更新日期:1993-11-01 00:00:00

  • Significance of mitochondrial DNA deletions in myotonic dystrophy.

    abstract::Mitochondrial DNA (mtDNA) deletions have been noted in small quantities in a handful of atypical cases of myotonic dystrophy and there are clinical and pathological parallels between this autosomal dominant disease and certain mitochondrial myopathies where such deletions are well recognised. We studied 20 individuals...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1993.tb04071.x

    authors: Thyagarajan D,Byrne E,Noer S,Lertrit P,Utthanophol P,Kapsa R,Marzuki S

    更新日期:1993-01-01 00:00:00

  • Circulating nociceptin and CGRP in medication-overuse headache.

    abstract:BACKGROUND:Previous studies found low serum levels of nociceptin in migraine patients but high serum levels of calcitonin gene-related peptide (CGRP). CGRP can elicit migraine-like headache. Medication-Overuse Headache (MOH) often has migraine features and can mimic chronic migraine. We therefore hypothesized that as i...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.13053

    authors: Munksgaard SB,Ertsey C,Frandsen E,Bendtsen L,Tekes K,Jensen RH

    更新日期:2019-03-01 00:00:00

  • Basal metabolic rate in patients with hydrocephalus. On the cause of lowered basal metabolic rate in myotonic dystrophy.

    abstract::Myotonic dystrophy seems to have a hypometabolism of non-thyroid origin. The hypometabolism could hypothetically be caused by : 1) reduction in muscle mass, 2) hydrocephalus ex vacuo, an integral part of the disorder, or 3) the basic disease process itself. Possibility 2) was explored by determining basal metabolic ra...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1976.tb04344.x

    authors: Hidle I,Sjaastad O

    更新日期:1976-03-01 00:00:00

  • Electroencephalographic markers in dementia.

    abstract::Dementia is a global health problem with a huge impact on the lives of those afflicted. There are several distinct diseases that are classified under the umbrella term "dementia" ranging from neurodegenerative disorders such as Alzheimer's disease to chronic infections of the central nervous system such as subacute sc...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章,meta分析,评审

    doi:10.1111/ane.12638

    authors: Malek N,Baker MR,Mann C,Greene J

    更新日期:2017-04-01 00:00:00

  • Superior cerebellar artery territory stroke.

    abstract:OBJECTIVES:The purpose of this study was to clarify etiologic factors, prior symptoms and clinical features of isole superior cerebellar artery (SCA) territory infarcts. METHODS:All data were collected from consecutive 21 patients with isole SCA infarcts involved on computerized tomography. RESULTS:The risk factors i...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1998.tb07310.x

    authors: Erdemoglu AK,Duman T

    更新日期:1998-10-01 00:00:00

  • Levodopa use in Denmark: high levels in Greenland and the Faroe Islands. Europarkinson Preparatory Activity Research Group.

    abstract::Levodopa (LD) sales from wholesalers to pharmacies during the periods, 1977-1989 in Denmark, 1981-1989 in Greenland, and April 1988-May 1989 in Danish counties and the Faroe Islands, were evaluated using a reported method and a procedure expressly developed for assessment of random variation comparative levodopa use (...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1995.tb00413.x

    authors: de Pedro-Cuesta J,Wermuth L,Abraira V,Stawiarz L

    更新日期:1995-02-01 00:00:00

  • Quality of life in chronic inflammatory demyelinating polyneuropathy patients treated with subcutaneous immunoglobulin.

    abstract:BACKGROUND:Subcutaneous immunoglobulin (SCIG) is effective treatment of chronic inflammatory demyelinating polyneuropathy (CIDP). Quality of life (QoL) increases following switch from intravenous administration to SCIG, but its correlation with clinical functioning is sparsely studied. AIMS OF THE STUDY:The aim of thi...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.13322

    authors: Ryltoft AK,Al-Zuhairy A,Sindrup SH,Andersen H,Markvardsen LK

    更新日期:2020-12-01 00:00:00

  • Hip fracture after first-ever stroke: a population-based study.

    abstract:OBJECTIVES:The aim of this study is to estimate the risk of hip fracture after first-ever stroke, using a nationwide population-base data set and a retrospective cohort design. MATERIALS AND METHODS:The cohort study involved 18,413 patients surviving a first-ever stroke during the 12-year period from 1997 to 2008. Ano...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12301

    authors: Lin HL,Lin HC,Tseng YF,Liao HH,Worly JA,Pan CY,Hsu CY

    更新日期:2015-03-01 00:00:00

  • Mode of action of dantrolene sodium in spasticity.

    abstract::The mode of action of dantrolene sodium was studied in 11 multiple sclerosis patients with spastic paresis of the legs by measurements of changes in electromyographic and mechanomyographic proprioceptive reflex responses and in voluntary power. Dantrolene sodium 0.5 mg per kg body weight given intravenously clearly re...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1979.tb02941.x

    authors: Mai J,Pedersen E

    更新日期:1979-06-01 00:00:00

  • Screening of patients with hereditary spastic paraparesis and Addison's disease for adrenoleukodystrophy/adrenomyeloneuropathy.

    abstract::X-linked adrenoleukodystrophy/adrenomyeloneuropathy presents a wide variation of clinical manifestations and may mimic several diseases. A screening investigation by measuring plasma saturated very long-chain fatty acids was performed in two groups of patients. Among six patients with hereditary spastic paraparesis on...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1992.tb04015.x

    authors: Holmberg BH,Hägg E,Duchek M,Hagenfeldt L

    更新日期:1992-02-01 00:00:00

  • Thymic lymphoepitheliomas and skeletal muscle expressing common antigen(s).

    abstract::Rabbit antiserum to a citric acid extract of human skeletal muscle (CA) stained epithelial thymoma cells as well as skeletal muscle. Thymomas from two myasthenia gravis (MG) patients showing no circulating anti-CA antibodies prior to thymectomy were also stained by the antiserum. Thus, in these patients as well, the t...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1986.tb03300.x

    authors: Gilhus NE,Matre R,Aarli JA,Hofstad H,Thunold S

    更新日期:1986-04-01 00:00:00

  • Re-evaluation of the dysequilibrium syndrome.

    abstract:OBJECTIVES:To re-evaluate middle-aged Swedish patients diagnosed with dysequilibrium syndrome (DES) in childhood and to compare their clinical and neuroimaging features to DES with VLDLR gene mutations (DES-VLDR). MATERIALS AND METHODS:Six patients from five families underwent neurological examination and magnetic res...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2010.01335.x

    authors: Melberg A,Orlén H,Raininko R,Entesarian M,Dahlqvist J,Gustavson KH,Dahl N

    更新日期:2011-01-01 00:00:00

  • Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family.

    abstract:INTRODUCTION:Charcot-Marie-Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next-generation sequencing technology, at present more than 70 CMT-associated genes are known. We investigated whether variants in the DCTN2 could cause CMT. MATERIA...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/ane.12515

    authors: Braathen GJ,Høyer H,Busk ØL,Tveten K,Skjelbred CF,Russell MB

    更新日期:2016-07-01 00:00:00

  • EEG in presenile dementia related to cerebral blood flow and autopsy findings.

    abstract::EEG, regional cerebral blood flow (rCBF) and neuropathological autopsy data were studied in 17 patients with presenile dementia. RCBF was measured in 14 cases using the intra-arterial-133-Xenon clearance technique. The neuropathological study included semi-serial whole brain microscopical sections in which the severit...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1977.tb01414.x

    authors: Jóhannesson G,Brun A,Gustafson I,Ingvar DH

    更新日期:1977-08-01 00:00:00

  • Bilateral mesial temporal lobe epilepsy: comparison of scalp EEG and hippocampal MRI-T2 relaxometry.

    abstract:OBJECTIVE:Bilateral hippocampal abnormality is frequent in mesial temporal lobe sclerosis and might affect outcome in epilepsy surgery. The objective of this study was to compare the lateralization of interictal and ictal scalp EEG with MRI T2 relaxometry. MATERIAL AND METHODS:Forty-nine consecutive patients with intr...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.2004.00305.x

    authors: Okujava M,Schulz R,Hoppe M,Ebner A,Jokeit H,Woermann FG

    更新日期:2004-09-01 00:00:00

  • Neuropsychological assessment in MS: clinical, neurophysiological and neuroradiological relationships.

    abstract::We assessed cognitive performance and its relationship with clinical and anatomic disease severity in MS with mild to moderate handicap; 34 definite MS and 18 healthy subjects matched for age and education were submitted to a neuropsychological test battery. Both groups were examined for anxiety. MS patients underwent...

    journal_title:Acta neurologica Scandinavica

    pub_type: 杂志文章

    doi:10.1111/j.1600-0404.1992.tb05052.x

    authors: Maurelli M,Marchioni E,Cerretano R,Bosone D,Bergamaschi R,Citterio A,Martelli A,Sibilla L,Savoldi F

    更新日期:1992-08-01 00:00:00