Abstract:
:Clinical and electrophysiological observations have been carried out on 12 patients with myotonic dystrophy. Neurological examination showed that the tendon reflexes were absent or weak in almost all cases, whereas the cutaneous reflexes were normal. Examination of both deep and superficial sensibility gave normal results. Electromyography confirmed widespread "myopathic" activity and myotonic discharges were recorded on insertion of the needle electrode and at rest. Motor and sensory conduction velocity in the ulnar nerve and motor conduction in the peroneal nerve proved to be normal. Repetitive supramaximal nerve stimulation showed in 10 cases a decrease in potential amplitude, more evident at higher frequencies of stimulation. In the 2 other cases, by contrast, an increase in amplitude was observed, and this was suggestive of a partial presynaptic block. The jaw reflex was absent in 5 cases and reduced in amplitude in the 7 other cases. The results of blink reflex investigations were normal, with the exception of 2 cases where no early response was elicited. Spinal monosynaptic reflexes were absent in 7 cases after both electrical (H reflex) and mechanical stimulation (T reflex), whereas the response to direct stimulation of nerve motor fibres (the M response) was always present, even though reduced in amplitude. Such data lead one to reject the hypothesis that the absence of deep reflexes is due to pathological change in the muscle spindles. It seems more likely that the selective atrophy of Type 1 muscle fibres, known to be involved in deep reflex responses, is responsible for the early disappearance of the tendon reflexes.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Messina C,Tonali P,Scoppetta Cdoi
10.1016/0022-510x(76)90136-2subject
Has Abstractpub_date
1976-12-01 00:00:00pages
303-11issue
2-3eissn
0022-510Xissn
1878-5883pii
0022-510X(76)90136-2journal_volume
30pub_type
杂志文章abstract::DNA amplification of three Mycobacterium tuberculosis-specific DNA sequences by the polymerase chain reaction (PCR) were evaluated as a means for rapid diagnosis of tuberculous meningitis (TBM). The DNA sequences amplified were a 123 bp region of the IS6110 insertion elements which occur in multiple copies in the myco...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90220-8
更新日期:1994-05-01 00:00:00
abstract::Hyperthermic isolated limb perfusion (HILP) with tumor necrosis factor alpha (TNFalpha) is effective for advanced melanoma and sarcoma of the limbs. Ten patients undergoing HILP with TNFalpha were evaluated by neurological examinations, nerve conduction studies (NCS), sympathetic skin responses (SSR) and conventional ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(98)00098-7
更新日期:1998-06-11 00:00:00
abstract:BACKGROUND:Restless legs syndrome (RLS) is characterized by the urge to move the legs accompanied by movement-responsive, abnormal sensations, which worsen at rest and night. We investigated the distribution of sensory symptoms and clinical correlations in patients with RLS and its variants. METHODS:Eighty-nine patien...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.116519
更新日期:2019-12-15 00:00:00
abstract::Using special soft tissue X-ray investigations the authors have found that the increase in volume of the calf musculature in progressive muscular dystrophy does not seem to be in complete accordance with the criteria of pseudohypertrophy. It has been demonstrated that this structural alteration of the musculature does...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(79)90074-1
更新日期:1979-09-01 00:00:00
abstract::Adult onset cerebral X-ALD (AOCALD) is a rare disease, but should be considered an important differential diagnosis in adults presenting with leukencephalopathy. We here report the case of a 40-year-old man with a history of progressive cognitive decline who presented with a first-time seizure. Initial workup included...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.06.012
更新日期:2009-10-15 00:00:00
abstract:BACKGROUND/OBJECTIVES:Recently, a genome-wide association study revealed a significant statistical association between LINGO1 rs9652490 and rs11856808 polymorphisms and the risk of developing essential tremor (ET) in Icelandic people. Because the results of further association studies were controversial, we conducted a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2012.02.030
更新日期:2012-06-15 00:00:00
abstract:OBJECTIVE:To identify and characterize cup to disc ratio (CDR) and related optic nerve head abnormalities in multiple sclerosis (MS) using spectral domain optical coherence tomography (OCT). BACKGROUND:While CDR is routinely assessed by ophthalmologists in the evaluation of glaucoma, CDR and related optic nerve head m...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.12.011
更新日期:2011-03-15 00:00:00
abstract:OBJECTIVE:To investigate the effect of mild cognitive impairment (MCI) on balance. METHODS:87 subjects with subjective memory impairment were enrolled, and subdivided into two groups, MCI and non-MCI, according to diagnostic criteria of amnestic subtype of MCI according to the 1999 MCI international panel (Current Con...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.02.031
更新日期:2011-06-15 00:00:00
abstract:BACKGROUND:Multiple sclerosis (MS) is a chronic inflammatory demyelinating disorder of the central nervous system. Evidences linking apolipoprotein E (APOE) to myelin repair, neuronal plasticity, and cerebral inflammatory processes suggest that it may be relevant in MS. The main goal of this study was to determine whet...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.05.050
更新日期:2012-09-15 00:00:00
abstract::Standardised skin biopsies followed by immunohistochemical examination for the presence of terminal nerve fibres reacting for neuropeptides substance P (SP) and calcitonin gene-related peptide (CGRP) were evaluated. Healthy subjects regularly displayed free nerve endings of both fibre types in the papillary and reticu...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90198-6
更新日期:1989-11-01 00:00:00
abstract::Six clones obtained from the neoplastic, astrocytic murine cell line VMDk P497 were injected intracerebrally into syngeneic hosts and the tumorigenicity of each clone was established. Five of the 6 clones produced tumours with incidences ranging from 25% to 100% and mean latencies of 43-100 days, according to the clon...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90071-8
更新日期:1988-02-01 00:00:00
abstract::Whether the primary mechanisms of migraine are vascular or neurogenic is, as yet, unresolved. In humans it is still unclear whether sumatriptan acts via constriction of dilated arteries or through other mechanisms. Doppler sonography is a non-invasive method for measuring blood flow velocities (BFV), an indirect marke...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0022-510x(95)00344-2
更新日期:1996-06-01 00:00:00
abstract:PURPOSE:To evaluate the performance of a machine learning method based on texture parameters in conventional magnetic resonance imaging (MRI) in differentiating glioblastoma (GB) from brain metastases (METs). MATERIALS AND METHODS:In this retrospective study conducted between November 2008 and July 2017, we included 7...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2019.116514
更新日期:2020-03-15 00:00:00
abstract::Intellectual problems are a recognized feature of neurofibromatosis 1 (NF1) but their aetiology is unknown. We investigated the frequency, nature, severity and cause of intellectual impairment in NF1. We undertook neurological and psychometric assessments on 103 patients with NF1 and 105 controls equated for age, sex ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(96)00022-6
更新日期:1996-06-01 00:00:00
abstract::Anhedonia is one of the non-motor symptoms observed in the Parkinson's disease (PD). However, there is no clear relationship between anhedonia and its correlation with other symptoms of PD. The aim of this study is to evaluate the characteristics of anhedonia and its correlation with clinical aspects of PD in a relati...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2016.10.051
更新日期:2017-01-15 00:00:00
abstract::The outcome of outpatient neurologic consultations has not been previously evaluated. There is also no data regarding patients' perceptions of outpatient neurologic consultations. In this study, we assessed the physician's evaluations of the outcome and utility of neurologic consultations by reviewing office records o...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2008.09.036
更新日期:2009-01-15 00:00:00
abstract::We investigated whether the reduced intramembranous particles (IMP) in the muscle plasma membrane in mdx mice reflects a preferential depletion of a particular size of the IMP. The experiments were performed using the freeze-fracture method to analyze the frequency distribution of the size of IMP, the density of ortho...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(96)05350-6
更新日期:1997-05-29 00:00:00
abstract:AIM:The balance of excitation and inhibition of neurons and neuronal network is very important to perform complete neuronal function. Damage or loss of inhibitory γ-aminobutyric acid (GABA)-ergic interneuron is associated with impaired inhibitory control of cortical pyramidal neurons, leading to hyperexcitability and e...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.08.035
更新日期:2012-12-15 00:00:00
abstract::Growth differentiation factor 11 (GDF11), as a rejuvenation factor in heterochronic parabiosis, can increase proliferation of primary brain capillary endothelial cells (ECs). However, the angiogenic role of GDF11 in ischemia-induced brain injury is still unclear. There are no previous reports on the spatiotemporal exp...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.08.004
更新日期:2016-10-15 00:00:00
abstract:OBJECTIVE:We carried out a meta-analysis focusing on the relationships between rs1137070 C>T and rs1799836 A>G polymorphisms in the MAO gene as a modifier of Parkinson disease (PD) susceptibility. METHOD:A literature search of the Cochrane Library Database, Web of Science, PubMed, CINAHL, EMBASE, and the Chinese Biome...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,meta分析
doi:10.1016/j.jns.2014.07.016
更新日期:2014-10-15 00:00:00
abstract::Antiserum to the myelin lipid galactocerebroside (GalC) causes rapidly progressive focal demyelination when injected into guinea pig optic nerves. The capacity of anti-GalC to induce central nervous system demyelination is complement-dependent, and demyelinating activity is present in the immunoglobulin fraction of an...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(84)90177-1
更新日期:1984-06-01 00:00:00
abstract::Memantine, a clinically employed drug with N-methyl-D-aspartate (NMDA) receptor antagonistic effects, dose-dependently ameliorates neurological deficits in Lewis rat experimental autoimmune encephalomyelitis (EAE). Interestingly, this therapeutic effect was not due to dampened CNS inflammation, as assessed by immunohi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00339-4
更新日期:1996-05-01 00:00:00
abstract::Phenylketonuria (PKU) is a recessive autosomal disorder caused by a severe deficiency of phenylalanine-4-hydroxilase activity which leads to the accumulation of L-phenylalanine (Phe) in the tissues and plasma of patients. The main clinical features are retarded development and intellectual impairment. Recent studies h...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.01.016
更新日期:2010-05-15 00:00:00
abstract:INTRODUCTION:Although cerebral small vessel disease is a significant contributor to the development of imbalance and falls in the elderly, whether it causes dizziness is not known. METHODS:A retrospective case analysis was conducted for 122 dizzy patients referred to two neuro-otology tertiary centres in London and Pi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2015.09.006
更新日期:2015-11-15 00:00:00
abstract::We describe a patient presenting with vertical one-and-a-half syndrome and concomitant contralesional horizontal gaze paresis as the result of a solitary neurocysticercosis (NCC) lesion in the right midbrain extending into the thalamomesencephalic junction. The patient received an albendazole-dexamethasone course whic...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.08.022
更新日期:2012-12-15 00:00:00
abstract::Depression is frequently associated with Parkinson disease (PD) but neural basis is still unclear. In previous studies white matter changes present as signal hyperintesities on T2-wighted MRI studies (WMHs) commonly observed in older adults have been associated with depressive symptomatology. In this study we investig...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.07.021
更新日期:2012-11-15 00:00:00
abstract::A 75-year-old woman developed painful legs and moving toes syndrome (PLMT) 16 months after the onset of herpes zoster (HZ) myelitis. Although the scattered extensive lesions due to HZ myelitis were observed to be eccentric near the posterior horn on MRI, these changes had disappeared upon the development of PLMT. Comb...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2004.01.011
更新日期:2004-04-15 00:00:00
abstract::Auditory vocal hallucinations are sometimes observed in temporal-lobe epilepsy, but are a frequent sign of psychosis and may rarely be mistaken for the latter. Here we report two patients who suffered from auditory vocal hallucinations, described as unintelligible human voices perceived at their left side during epile...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.03.029
更新日期:2011-06-15 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
abstract::Alzheimer's disease (AD) is a complex disorder and the most common form of neurodegenerative dementia. Several genetic, environmental, and physiological factors, including inflammations and metabolic influences, are involved in the progression of AD. Inflammations are composed of complicated networks of many chemokine...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2017.03.031
更新日期:2017-05-15 00:00:00