Abstract:
:Acid maltase deficiency is described in non-identical adult twins. The onset of the disease can be traced into late infancy; the clinical picture is one of severe muscular dystrophy; respiratory insuficiency was the cause of death in one case. The autopsy showed the central nervous system, heart and liver to be spared. Glycogen filled vacuoles are found in skin, mesenchymal cells, small nerves and skeletal muscles. The light microscopic study of 9 different muscles showed extremely variable involvement ranging from normal appearance to overt vacuolization. A 6--20% residual acid alpha-glucosidase activity was found in visceral organs, cultured fibroblasts and in some skeletal muscles. No satisfactory explanation can be given why this generalized acid alpha-glucosidase deficiency produces a selective involvement of skeletal muscles. If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein. From our study and from a similar report in the literature (de Barsy et al., 1975), it appears that a combined approach of light microscopy, electron microscopy and biochemical analysis (determination of acid alpha-glucosidase) is necessary to make a diagnosis of AMD in adults.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Martin JJ,de Barsy T,den Tandt WRdoi
10.1007/BF00313272subject
Has Abstractpub_date
1976-08-06 00:00:00pages
105-18issue
2eissn
0340-5354issn
1432-1459journal_volume
213pub_type
杂志文章abstract::Chronic neuropathy is the most frequent condition affecting the peripheral nervous system. It includes symmetrical polyneuropathies, multifocal mononeuropathies, mononeuropathies and radiculopathies. Mononeuropathies are mainly due to compression or entrapment and are not discussed in this review, which focuses on pol...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050326
更新日期:1999-03-01 00:00:00
abstract:OBJECTIVE:To establish differences in basal ganglia and thalamic volume between preclinical carriers and non-carriers of the Huntington's disease (HD) gene and to link the volume to motor, cognitive and behavioural characteristics in carriers. METHODS:Sixteen HD gene carriers without overt clinical motor signs and 14 ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0050-4
更新日期:2008-11-01 00:00:00
abstract::There is increasing evidence that inflammation plays an important role in the progression of acute ischemic stroke (AIS). The primary aims of this study were to examine the serum levels of 13 cytokines, C-reactive protein (CRP), glucose, and hemoglobin in AIS patients, and their relationship to stroke lateralization, ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6006-0
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:Gastrointestinal (GI) dysfunction is prevalent in Parkinson's disease (PD). Symptoms are evident throughout the disease course, affect the length of the GI tract and impact on patient quality of life and management. We clarify real-life differences in the frequency and severity of GI symptoms in a cohort of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09723-5
更新日期:2020-05-01 00:00:00
abstract:OBJECTIVES:Evidences from either small series or spontaneous reporting are accumulating that SARS-CoV-2 involves the Nervous Systems. The aim of this study is to provide an extensive overview on the major neurological complications in a large cohort of COVID-19 patients. METHODS:Retrospective, observational analysis o...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10251-5
更新日期:2020-10-07 00:00:00
abstract::Temporal lobe epilepsy has been usually associated with progressive brain atrophy due to neuronal cell loss. However, recent animal models demonstrated a dual effect of epileptic seizures with initial enhancement of hippocampal neurogenesis followed by abnormal astrocyte proliferation and neurogenesis depletion in the...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09546-z
更新日期:2019-12-01 00:00:00
abstract::This short review summarizes epilepsy papers published in the Journal of Neurology in 2009, covering pathophysiology (inflammation; propagation pathways), new treatments (oxcarbazepine in paediatrics; levetiracetam in status epilepticus), and non-seizure outcomes (violence; foetal/pregnancy). ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-010-5740-z
更新日期:2010-11-01 00:00:00
abstract::Despite ongoing improvements in the acute treatment of cerebrovascular diseases and organization of stroke services, many stroke survivors are in need of neurorehabilitation, as more than two-thirds show persisting neurologic deficits. While early elements of neurorehabilitation are already taking place on the stroke ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6247-y
更新日期:2012-05-01 00:00:00
abstract:OBJECTIVES:Lumbar spondylosis (LS) is a common spinal degenerative disorder which causes various types of lower urinary tract dysfunction (LUTD). However, it is not certain whether LS may cause urinary retention in elderly women. METHODS:In a period covering the past 3 years, we retrospectively reviewed: a) urodynamic...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-005-0790-3
更新日期:2005-08-01 00:00:00
abstract::Seventy-seven cases of the optic-spinal form of multiple sclerosis (OSMS) were collected from 6 institutes in 3 cities of Japan, and the clinical and MRI features were analyzed. Two-thirds of the OSMS patients had longitudinally extensive spinal cord MRI lesions (LESL), and had clinical features similar to those of re...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究
doi:10.1007/s00415-006-0400-z
更新日期:2007-04-01 00:00:00
abstract::Among 234 hemophiliacs, 14 patients (5.9%) with intracranial and 1 patient (0.4%) with intramedullary hemorrhage were observed and examined. The average age at the time of hemorrhage was 17 years in patients with severe hemophilia and 43 years in patients with moderate hemophilia. The patients with mild hemophilia and...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313358
更新日期:1976-01-14 00:00:00
abstract::Little is known about the relationship between cognitive dysfunctions and the non-motor complex in subjects with newly diagnosed untreated Parkinson's disease (PD). The aim of this study was to explore the association between non-motor symptoms (NMS) and cognitive dysfunctions in an incident cohort of de novo, drug-na...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6407-0
更新日期:2012-09-01 00:00:00
abstract::The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is caused by a relatively selective distal axonal degeneration involving the longest axons of the corticospinal tracts. Consequently, these conditions provide an op...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7598-y
更新日期:2015-07-01 00:00:00
abstract::Neurological complications following rubella are only rarely encountered. However, in many cases severe neurological impairment may occur, leading to permanent disability. In a recent epidemic of rubella in Israel during the years 1978-1979, 20 patients with severe neurological complications have been seen. We report ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313402
更新日期:1982-01-01 00:00:00
abstract::Recent genetic studies suggest a Sardinian type of amyotrophic lateral sclerosis (ALS). Thus, ALS incidence, prevalence and survival were investigated in a large population of Sardinians aimed to disclose population-specific patterns and their temporal changes. This is a population-based incidence and prevalence study...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6681-5
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Current demographic changes indicate that more people will be care-dependent due to increasing life expectancy. Little is known about impact of preexisting dependency on stroke outcome after endovascular treatment (EVT). METHODS:We compared prospectively collected baseline and outcome data of pr...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10172-3
更新日期:2020-08-31 00:00:00
abstract::Oculomotor dysfunction in Parkinson's disease (PD) is mainly characterized by a fragmentation of memory-guided gaze shifts (target is reached by several hypometric saccades). Since this phenomenon can also be observed in normal subjects, we scrutinized its pathophysiological significance in PD patients. We recorded ho...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0691-7
更新日期:2002-06-01 00:00:00
abstract::This meta-analysis aims to compare percutaneous transluminal angioplasty (PTA) to medical treatment (MT) for symptomatic vertebral artery stenosis (SVAS) treatment. We searched PubMed, Springer, Google Scholar, Clinical Trials, Cochrane Central, Chinese National Knowledge Infrastructure, and China Biological Medicine ...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00415-016-8267-0
更新日期:2017-05-01 00:00:00
abstract::Degeneration of central dopaminergic neurons is the most characteristic pathological feature of Parkinson's disease. It remains to be established to what extent these lesions explain the motor, cognitive and affective disorders observed in patients, but there are now some interesting clues to a possible solution. ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/BF00819560
更新日期:1992-01-01 00:00:00
abstract::Cerebral atrophy calculated from serial MRI is a marker of Alzheimer's disease (AD) progression, and a potential outcome measure for therapeutic trials. Reducing within-subject variability in cerebral atrophy rates by acquiring more than two serial scans could allow for shorter clinical trials requiring smaller patien...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-006-0173-4
更新日期:2006-09-01 00:00:00
abstract::A case of a patient with hyperinsulinism due to insulinoma associated with neurological and psychiatric disturbances including EEG alterations is reported. The hunger test as well as the i.v. tolbutamid test proved to be of diagnostic importance. In addition, the electroencephalographic studies combined with blood sug...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00329161
更新日期:1976-04-23 00:00:00
abstract:BACKGROUND:Myelin oligodendrocyte glycoprotein immunoglobulin G associated optic neuritis (MOG-ON) is a recently described entity. Recent studies have shown that MOG-ON has a more severe clinical presentation than classic optic neuritis (ON). OBJECTIVE:This study aimed to define morphological characteristics of MOG-ON...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10097-x
更新日期:2021-01-01 00:00:00
abstract::We investigated the visual event-related potentials (ERPs) in two subtypes of multisystem atrophy (MSA) in 15 MSA-C patients, 12 MSA-P patients, and 21 normal control (NC) subjects. We used a visual oddball task to elicit ERPs. No significant changes were seen in N1 or N2 latency, in either MSA-C or MSA-P, compared wi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0764-7
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVE:We aimed to assess the effectiveness of conservative treatments in children with tension-type headaches (TTH). METHOD:We searched Medline, Embase and the Cochrane Library and performed reference checking. Two independent authors assessed trial quality and extracted data. Analysis was carried out according to...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-005-0940-7
更新日期:2005-10-01 00:00:00
abstract::Thirty-five patients with intraventricular haemorrhage shown by CT underwent cerebral arteriography. In 15 patients arteriography showed an occlusion of a carotid or middle cerebral artery. Secondary bleeding into an infarction caused the intraventricular haemorrhage. All 15 patients were aged over 40 years. ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313641
更新日期:1983-01-01 00:00:00
abstract::Early identification of cardiogenic vertigo (CV) is necessary to prevent serious complications of cardiovascular diseases. However, the literature is limited to case reports without detailed clinical features or diagnostic criteria. The aim of this study was to define characteristics of CV and propose diagnostic crite...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10252-4
更新日期:2020-10-06 00:00:00
abstract::Multiple system atrophy (MSA) manifests as a combination of dysautonomia and motor symptoms/signs. However, rare cases presenting with autonomic failures in absence of motor symptoms/signs until their deaths have been reported and are referred to as non-motor MSA. To clarify pathological findings underlying non-motor ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-017-8604-y
更新日期:2017-11-01 00:00:00
abstract::Clinical data and the serum and cerebrospinal fluid (CSF) findings of 71 patients with Guillain-Barré syndrome (GBS), 7 with Fisher syndrome and 24 with chronic inflammatory polyradiculoneuropathy (CIP), were analysed. Isoelectric focusing of serum and CSF together with different formulae and diagrams were applied to ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314019
更新日期:1986-08-01 00:00:00
abstract::Mutations in C19orf12 have been recently identified as the molecular genetic cause of a subtype of neurodegeneration with brain iron accumulation (NBIA). Given the mitochondrial localization of the gene product the new NBIA subtype was designated mitochondrial membrane protein-associated neurodegeneration. Frequent fe...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6521-7
更新日期:2012-11-01 00:00:00
abstract::The effect of phospholipase A1 of human brain on 1,2-diacyl-sn-glycero-3-phosphorylcholine, -ethanolamine and -serine, specifically labelled with different fatty acids at either the 1 or 2 position, was determined in subacute sclerosing panencephalitis. An increase of approximately 40% in the specific activity of phos...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312524
更新日期:1975-01-01 00:00:00