Abstract:
:This paper describes 2 brothers with increasingly severe exercise-induced muscle pain and stiffness, beginning in adolescence. Histochemical studies showed that myoadenylate deaminase activity was absent in the propositus, but present in his younger brother. Biochemical examination of muscle homogenates confirmed these findings, with enzyme activity approximately 60% of the mean control value in the younger sibling. Red cell adenylate deaminase activity was normal in both cases. The possible relationship between the clinical and biochemical findings in these patients is discussed.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Hayes DJ,Summers BA,Morgan-Hughes JAdoi
10.1016/0022-510x(82)90086-7subject
Has Abstractpub_date
1982-01-01 00:00:00pages
125-36issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(82)90086-7journal_volume
53pub_type
杂志文章abstract::The clinical, genetic and electrophysiological study of 3 patients with an association of a neuronal form of Charcot-Marie-Tooth Disease (CMTD) with a syndrome of continuous motor unit activity (CMUA) are reported, with light and electron microscopy of muscle and sural nerve biopsies in 2 patients. The unusual clinica...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(84)90105-9
更新日期:1984-01-01 00:00:00
abstract::A method for preparative separation of cerebrospinal fluid specific proteins by affinity chromatography and isoelectric focusing is described. It has been tested on CSF from a group of human patients suffering from TIA. The advantage of the method is the production of a protein pattern easy to survey by eye. The sensi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90132-x
更新日期:1980-01-01 00:00:00
abstract:BACKGROUND:CYP2D6 polymorphisms have been reported to be associated with Parkinson's disease (PD) susceptibility, but the results of these previous studies were inconsistent. OBJECTIVES:To explore whether PD patients with CYP2D6 gene variation have different risk to PD to those with normal function of CYP2D6. METHODS...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2013.10.030
更新日期:2014-01-15 00:00:00
abstract::Myotonic Dystrophy Type 1 (DM1) in combination with demyelinating neuropathy is very rare in literature. In this study, DM1 and demyelinating neuropathy were demonstrated clinically and electromyographically in a 43-year-old female patient from Turkey. In the patient an expanded CTG repeat in the Myotonic Dystrophy Pr...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.09.028
更新日期:2010-01-15 00:00:00
abstract::Multiple sclerosis (MS) is a lifelong neurologic disease leading to moderate or severe disability in the majority of affected patients. Studies of the natural history of MS suggest that 90% of patients with relapsing-remitting MS eventually develop secondary progressive (SP) disease. Magnetic resonance imaging (MRI) s...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(02)00039-4
更新日期:2002-05-15 00:00:00
abstract:OBJECTIVES:Tumor necrosis factor-alpha inhibitors (TNFα-I) are biological agents used in the treatment of rheumatologic disorders. TNFα-I have been associated with demyelinating disorders mimicking multiple sclerosis. The goal of this report is to illustrate cases of myelopathy which developed during the use of TNFα-I....
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.01.023
更新日期:2017-02-15 00:00:00
abstract::Alterations in short- and long-latency components of median and tibial somatosensory evoked potentials (SEPs) were studied in patients with lesions in the thalamus and thalamo-cortical radiations. When the lesions were located primarily in the ventro-posterior thalamus, the SEP changes consisted of the following combi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(86)90169-3
更新日期:1986-12-01 00:00:00
abstract::Room tilt illusion, a misperception that the entire room is tilted, is a rare but nonspecific neurological symptom. We report a patient with Parkinson's disease who developed typical room tilt illusion. Single photon emission computed tomography demonstrated hypoperfusion of the posterior area of the right intrapariet...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.08.054
更新日期:2009-12-15 00:00:00
abstract:OBJECTIVE:This study used reaction time (RT) as an objective marker of cognitive fatigue and fatigability in patients with multiple sclerosis (MS). METHOD:RT was measured in fifteen healthy controls and in thirty MS patients with cognitive fatigue identified with the Fatigue Scale for Motor and Cognitive Function (FSM...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.03.024
更新日期:2014-05-15 00:00:00
abstract::Immunolocalization of 14-3-3 proteins in human brains with infarction was investigated using isoform-specific antibodies. Neurons around acute or subacute ischemic foci exhibited an enhanced immunoreactivity for 14-3-3 proteins either in the cytoplasm (especially for its sigma isoform) or in the nucleus (especially fo...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.04.053
更新日期:2007-09-15 00:00:00
abstract::Although control of hypertension is established as an important factor in the primary and secondary prevention of stroke, management of blood pressure in the setting of acute ischemic stroke remains controversial. Given limited data, the general consensus is that there is no proven benefit to lowering blood pressure i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2007.04.033
更新日期:2007-10-15 00:00:00
abstract::The neuropathology of 8 cases of S. Paulo south coast epidemic encephalitis (Rocio flavivirus), a new arbo B virus encephalitis, is described. The topographic pattern of the lesions appears to be almost specific. The gray matter is predominantly affected. Interstitial mononuclear infiltration, microglial proliferation...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(80)80001-3
更新日期:1980-02-01 00:00:00
abstract::Patients with diabetic amyotrophy may have an inflammatory vasculopathy and may obtain reversal of neurological deficits with immunosuppression. We present a patient with NIDDM, subacute onset of painful asymmetric polyradiculopathy, and unilateral enhancement of lumbar nerve roots on MRI. Clinical improvement and res...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(97)00114-7
更新日期:1997-10-22 00:00:00
abstract::We report three related patients with autosomal dominant hereditary motor and sensory neuropathy (HMSN). An unusual and characteristic feature was calf enlargement, caused by muscle fiber hypertrophy predominantly of type 1 fibers. None of the family members showed atrophy of the legs. Sural nerve pathology disclosed ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(92)90274-o
更新日期:1992-11-01 00:00:00
abstract:BACKGROUND:Although single-photon emission computerized tomography of the dopamine transporter (DAT-SPECT) is useful for diagnosing parkinsonian syndrome, its applicability toward the early phase of Parkinson's disease remains unknown. METHODS:We enrolled 32 patients showing parkinsonism with normal cardiac 123I-metai...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.04.026
更新日期:2017-06-15 00:00:00
abstract::This is the first report of a patient presenting with a combination of Wallenberg and posterior spinal artery syndromes. The patient developed right hemiplegia and sensory disturbances on the right side of the face and over the whole body. MRI showed infarcts of the cerebellum, medulla oblongata, and upper cervical co...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00318-x
更新日期:2000-06-15 00:00:00
abstract::The distribution of histocompatibility antigens was studied in 44 patients with motor neurone disease (MND). An unusually high incidence of HLA antigens A2 and A28 was found, compared to a control population. ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(77)90236-2
更新日期:1977-06-01 00:00:00
abstract::The mechanisms primarily responsible for the degenerative processes occurring in dystrophic skeletal muscle remain unresolved. The identification of the mechanisms that lead to the complete sparing of extraocular muscle in dystrophinopathies is of particular interest. A number of studies have provided evidence to sugg...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:
更新日期:1996-08-01 00:00:00
abstract::The effects of synergist tenotomy have been studied on rat soleus muscles after denervation and after interference with sciatic axoplasmic flow with colchicine. The results suggest that neural, as well as muscular, factors cause compensatory hypertrophy (CH) of soleus. The myogenic factor may be mild depolarization of...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90166-5
更新日期:1980-03-01 00:00:00
abstract:BACKGROUND:Cerebrovascular reactivity (CVR) is defined as the change in cerebral blood flow, or blood velocity, in response to a vasoactive stimulus. There is a possible association between impaired CVR and vasospasm after aneurysmal subarachnoid hemorrhage. Most studies on CVR and vasospasm have used healthy subjects ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.12.024
更新日期:2016-04-15 00:00:00
abstract::We report the clinical, neuroradiological and biochemical features of a patient with epilepsia partialis continua (EPC). MRI studies disclosed multiple cortico-subcortical areas of abnormal signal intensity. The activity of complex I of the mitochondrial respiratory chain was markedly reduced in skeletal muscle. The b...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)00267-r
更新日期:1995-04-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Although elevated fasting blood glucose (FBG) at admission is associated with poor outcome in patients with ischemic and hemorrhagic stroke, it has not been investigated in patients with cerebral venous thrombosis (CVT). We aimed to determine the correlation between elevated FBG and severity and ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.117017
更新日期:2020-10-15 00:00:00
abstract::Bacillus Calmette-Guérin (BCG) and Mycobacterium avium subspecies paratuberculosis (MAP) have been associated with multiple sclerosis (MS). Clinical data indicates that BCG vaccination exerts anti-inflammatory effects in MS; conversely, MAP is thought to be one of the possible infectious factors responsible of MS thro...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.09.023
更新日期:2014-12-15 00:00:00
abstract:BACKGROUND:VTI1A and ETFA were identified recently as susceptibility genes for non-glioblastoma (GBM) of glioma risk in European populations, but the genetic etiology and pathogenesis of glioma have not been fully elucidated. Here, we aimed to investigate whether common genetic variants in VTI1A and ETFA predispose Han...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2017.02.013
更新日期:2017-04-15 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::A monoclonal antibody (MAb) raised against central nervous system (CNS) myelin (212) and a MAb (308) raised against brain with Semliki Forest virus (SFV) were both found to react against the same CNS glycolipids. Both these MAbs were also found to react strongly with SFV and against certain brain glycolipid fractions ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(86)90144-9
更新日期:1986-11-01 00:00:00
abstract::We assayed IL-6 in 105 cerebrospinal fluid (CSF) samples from patients with ALS, MS, HTLV-1 associated myelopathy (HAM), and controls. There was considerable overlap in IL-6 levels in all patient groups. The mean IL-6 in 27 patients with ALS was significantly higher than in 21 patients in the other neurological diseas...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(97)00228-1
更新日期:1998-02-05 00:00:00
abstract::Guillain-Barré Syndrome (GBS) is the most frequent cause of neuromuscular paralysis in industrialized countries and usually occurs after respiratory and gastrointestinal infections. However, in rare cases GBS is associated with Graft-versus-Host Disease (GvHD). In the present case we report on a female allogeneic bone...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.01.020
更新日期:2010-05-15 00:00:00
abstract::Quantitative sensory testing (QST) has been used clinically for the last two decades, yielding a substantial number of publications regarding these applications. In this review we tried to amass together the major findings of these publications into one monograph, excluding those dealing with pain. This was done with ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/s0022-510x(97)00293-1
更新日期:1998-01-08 00:00:00
abstract::Neuronal damage seems to be a major source of disability in multiple sclerosis (MS) patients and at present magnetic resonance imaging (MRI) is a sensitive method to evaluate lesion and disease activity. We studied the potential correlation between changes in MS patients' disability after relapse, the degree of T1 les...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(01)00650-5
更新日期:2002-01-15 00:00:00