Abstract:
:Centronuclear myopathy, like myotonic dystrophy, is characterized by muscle wasting and type 1 fiber atrophy. To determine whether this disorder might include a derangement in carbohydrate metabolism similar to that in myotonic dystrophy, 3 comparably wasted patients with centronuclear myopathy, myotonic dystrophy, and neurogenic atrophy were investigated. The patient with centronuclear myopathy had mild glucose intolerance and hypoinsulinemia after oral glucose ingestion in bold contrast to the normal glucose tolerance and hyperinsulinemia observed in the myotonic dystrophy patient. No abnormality was seen in oral glucose tolerance in the patient with neurogenic atrophy, and all 3 patients had normal insulin tolerance. Forearm insulin infusion demonstrated normal stimulation of muscle glucose uptake in the patients with centronuclear myopathy and neurogenic atrophy in contrast to the markedly diminished response to insulin seen in the patient with myotonic dystrophy. These data indicate that neither distal wasting or type 1 fiber atrophy are responsible for the abnormalities in carbohydrate metabolism in myotonic dystrophy.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Moxley RT 3rd,Griggs RC,Markesbery WR,Vangelder Vdoi
10.1016/0022-510x(78)90127-2subject
Has Abstractpub_date
1978-12-01 00:00:00pages
247-59issue
2-3eissn
0022-510Xissn
1878-5883pii
0022-510X(78)90127-2journal_volume
39pub_type
杂志文章abstract::The authors describe an unusual case of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without leg spasticity, which is a core clinical feature of ARSACS. This is the second family with a spasticity-lacking phenotype in ARSACS. A peripheral nerve conduction study disclosed decreases in motor and se...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.02.002
更新日期:2007-04-15 00:00:00
abstract:BACKGROUND AND PURPOSE:It is unclear whether acute ischemic stroke exhibits a seasonal pattern in Japan. The aim of the present study was to elucidate seasonal differences in acute ischemic stroke. METHODS:Our study enrolled 12,660 patients with ischemic stroke (7943 men, 4717 women; mean age, 70.1 years, S.D. 11.5; m...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2004.07.002
更新日期:2004-10-15 00:00:00
abstract:INTRODUCTION:The NR4A2 transcription factor is important in the development, survival and phenotype of dopaminergic neurons and it is postulated as a possible biomarker for Parkinson's disease (PD). Therefore, our aim was to analyze in a sample of a Mexican population with idiopathic PD, mutations (in two hotspot mutat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.05.029
更新日期:2017-08-15 00:00:00
abstract:OBJECTIVE:To investigate the cortical metabolic alterations that precedes longitudinal cognitive decline in Parkinson's disease (PD). METHODS:We analyzed the data of 46 PD patients who did not have dementia at baseline and completed 3-year follow-up. Based on the results of general cognitive, memory and visuospatial t...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.11.068
更新日期:2017-01-15 00:00:00
abstract::The authors describe the four patients in the first known Belgian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A novel homozygous missense mutation, NM_014363.3: c.3491T>A in exon 9, of the SACS gene was identified in the present family, which results in an original amino acid of met...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.07.022
更新日期:2008-01-15 00:00:00
abstract:BACKGROUND:Neural tube defects (NTD) are complex malformations rare in black Americans and Japanese. The incidence related to births or community-based studies have not been published in Cameroon or in black sub-Saharan countries, except one study in the Nigerian middle belt [Airede KI. Neural tube defects in the middl...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2008.01.010
更新日期:2008-07-15 00:00:00
abstract::We examined the changes in cognitive function following carotid endarterectomy (CEA) in relation to the cerebral blood flow (CBF) in patients with high-grade carotid stenosis. The subjects consisted of 23 patients who underwent CEA and 17 controls matched by age and education. Single photon emission computed tomograph...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(03)00128-x
更新日期:2003-09-15 00:00:00
abstract::Unilateral retrobulbar optic neuritis developed in a 43-year-old man with acquired immune deficiency syndrome (AIDS). This was secondary to varicella zoster virus (VZV) as confirmed by cerebrospinal fluid (CSF) polymerase chain reaction (PCR) detection of VZV in the cerebrospinal fluid. There was no typical cutaneous ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2005.05.005
更新日期:2005-10-15 00:00:00
abstract::MabQ113 is a monoclonal antibody raised against rat cerebellum which selectively strains Purkinje cells. Likewise, in mabQ113-immunoperoxidase stained sections of human cerebellum, deposits of reaction product are found only in the Purkinje cells. The dendritic arborizations, cell body, and axonal processes are immuno...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(85)90166-2
更新日期:1985-10-01 00:00:00
abstract:BACKGROUND:Parkinson's disease (PD) and multiple system atrophy (MSA) are neurodegenerative diseases that can be difficult to diagnose and distinguish from each other. STUDY AIMS AND METHODS: Patients with PD and MSA and controls were studied with magnetic resonance imaging (MRI) using tissue segmentation and outlining...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2005.07.013
更新日期:2005-12-15 00:00:00
abstract:OBJECTIVE:Naftopidil is used clinically for the treatment of voiding disorders in benign prostatic hyperplasia. Previous in vivo experiments in which naftopidil was applied intrathecally abolished rhythmic bladder contraction, suggesting that naftopidil might inhibit a voiding reflex through interaction with spinal dor...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.07.030
更新日期:2017-09-15 00:00:00
abstract::Increased activity of the MM isoenzyme of creatine kinase (CK) was found in plasma from Bar Harbor dystrophic mice of the 129/ReJ dy/dy strain when compared to the findings in non-dystrophic controls. Total plasma CK activity was only slightly increased in dystrophic animals but plasma from both normal and dystrophic ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(81)90055-1
更新日期:1981-07-01 00:00:00
abstract::Acetylcholine (ACh) plays an important role in cognitive function and muscle atonia in rapid eye movement (REM) sleep. This quantitative study used surface electromyography (sEMG) to investigate changes in muscular activity, which may indicate a deficiency of ACh among patients with cognitive impairment. We recruited ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.03.022
更新日期:2011-06-15 00:00:00
abstract::Multiple sclerosis (MS) is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS) with a complex etiology. Given the Vitamin D receptor (VDR) gene, it is considered an outstanding risk component associated with MS. The aim of the present study has been to explore and e...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.05.053
更新日期:2016-08-15 00:00:00
abstract::Reversible cerebral vasoconstriction syndromes are characterized by prolonged but reversible vasoconstriction of the cerebral arteries, presenting typically with thunderclap headache, with or without focal neurological signs or symptoms. They resemble primary central nervous system vasculitis but it is critical to dif...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.08.034
更新日期:2009-01-15 00:00:00
abstract::Structural alterations of endoneurial microvessels occur in diabetic neuropathy and are statistically associated with severity of nerve fiber loss and teased fiber abnormality. It is therefore hypothesized that the microvessel alterations may cause or contribute to pathologic alterations of nerve fibers in diabetic ne...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(90)90197-u
更新日期:1990-10-01 00:00:00
abstract::The diagnosis of vascular dementia (VaD) remains a controversial issue in many aspects and concepts. These nosologic problems are caused both by the methods, insufficient to ascertain the diagnosis, as well as by the weak consistency of the clinical concept of VaD itself. One of the most intriguing issues on VaD, and ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.01.055
更新日期:2007-06-15 00:00:00
abstract::We have used light microscopic histomorphometry to quantify the developmental histopathological changes induced by muscular dystrophy in the soleus and extensor digitorum longus (EDL) muscles of the mdx mouse. We find that this X-linked disease exhibits early fibre necrosis with foci of invasive cells, clustering of a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(87)90219-x
更新日期:1987-08-01 00:00:00
abstract::We recorded saccadic, pursuit and fixation eye movements in patients (n = 5) with moderately advanced Huntington's disease (HD), offspring of HD patients (n = 22) and control subjects (n = 15), using the scleral sensor coil technique. Saccadic slowing was seen in all patients, no controls and (marginally) in a few at-...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90107-4
更新日期:1988-09-01 00:00:00
abstract::Glioblastoma (GBM) is the most common primary malignant brain tumor in adults over 55years of age. The median age of diagnosis for patients with GBM is 64years old, with the incidence of patients between 75 and 85 increasing. The optimal treatment paradigm for elderly GBM patients continues to evolve due to the higher...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2017.07.048
更新日期:2017-09-15 00:00:00
abstract:OBJECTIVES:MRI assessments were correlated with serial Combined Mini-Mental Cognitive Capacity Screening Examinations (CMC). Vascular-MCI (VMCI), Neurodegenerative MCI (NMCI) and Parkinson-Lewy body MCI (PLB-MCI) were compared during conversions to dementia. Mild cognitive impairments (MCI) are identifiable prodromes f...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.01.016
更新日期:2007-06-15 00:00:00
abstract::Cathepsin B (CB) activity was measured in aqueous extracts of frozen autopsy specimens of centrum semiovale from three MS patients, five control patients with other neurological diseases, and five normal individuals. Mean activity was significantly increased in the MS tissue compared with controls. The mean activity i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00039-5
更新日期:1995-07-01 00:00:00
abstract::Several neuroimaging techniques are promising tools as early markers of brain pathology in Alzheimer's disease (AD). On structural MRI, atrophy of the entorhinal cortex is present already in mild cognitive impairment (MCI). In the autosomal dominant forms of AD, the rate of atrophy of medial temporal structures separa...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2005.05.001
更新日期:2005-09-15 00:00:00
abstract::Vasoactive intestinal peptide (VIP) and cholecystokinin (CCK) have been measured, by radioimmunoassay, in cerebral cortex obtained at autopsy from patients without neurological or psychiatric disease and from patients with Alzheimer's disease, depression and schizophrenia. Sephadex gel filtration indicated that over 9...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(81)90123-4
更新日期:1981-09-01 00:00:00
abstract::beta,beta'-Iminodipropionitrile (IDPN) impairs axonal transport of neurofilaments; their accumulation leads to the formation of proximal swellings in motor axons. Similar proximal swellings are a feature of some cases of motor neuron disease such as amyotrophic lateral sclerosis (ALS). Motor units in IDPN-treated anim...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(92)90090-8
更新日期:1992-05-01 00:00:00
abstract::Demonstration of the direct involvement of cranial blood vessels by varicella zoster virus (VZV) is facilitated by immunohistochemistry (IHC), in situ hybridization (ISH) and polymerase chain reaction (PCR) techniques. The extent to which an inflammatory vasculitis serves as the pathogenic mechanism for VZV encephalom...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(98)00171-3
更新日期:1998-08-14 00:00:00
abstract::Brain myelin was studied in genetically obese (ob/ob) mice and compared with that of normal (+/+) mice from the same strain. The brain from obese mice had a significantly lower amount of myelin, and marked changes in the fatty acid composition of myelin were observed. In contrast, the myelin cholesterol: phospholipid:...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(85)90104-2
更新日期:1985-05-01 00:00:00
abstract::The aim of the study was to assess risk factors for vascular dementia (VaD) in elderly psychiatric outpatients without dementia, and to determine to what extent clinical interventions targeted such risk factors. Out of 250 clinical charts, 78 were selected of patients over 60 years old, who showed no signs of dementia...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.01.035
更新日期:2007-06-15 00:00:00
abstract::To investigate the underlying basis for the selective modulation of the permeability of the blood-brain barrier by small doses of bradykinin, we first established cell lines of rat brain microvascular endothelial cells (BMECs) and astrocytes by primary cultures from neonatal rats. BMECs, astrocytes and C6 glioma cells...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.02.031
更新日期:2007-07-15 00:00:00
abstract::High resolution positron emission tomography (PET) with the newly developed HRRT scanner (Siemens/CTI) permits the reliable quantification of 18-Fluorodeoxyglucose (FDG) uptake as a marker of neuronal activity in small subcortical nuclei which are involved in the pathophysiology of Parkinson's disease (PD). We investi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.08.029
更新日期:2009-01-15 00:00:00