Abstract：
:The histochemical ATPase fibre type pattern was examined in muscle biopsy samples obtained from patients with recessive myotonia, paramyotonia and from one patient with dominant myotonia. Absence (less than or equal to 5%) of 2B fibres was a genuine finding in the minority of the cases. In additional cases of recessive myotonia, a deficiency (less than or equal to 15%) of 2B fibres was observed. Absence or deficiency of 2B fibres was not related to the minor myopathic alterations or to (para-)myotonic activity. It is hypothesised that absence of 2B fibres is a dominant or a recessive autosomal trait, and deficiency of 2B fibres is a recessive trait. Reported findings and our own observations suggest the possibility of a genetic combination of myotonia and absence/deficiency of 2B fibres. Implications of these hypotheses are proposed.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Heene R,Gabriel RR,Manz F,Schimrigk Kdoi
10.1016/0022-510x(86)90059-6subject
Has Abstractpub_date
1986-03-01 00:00:00pages
23-30issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(86)90059-6journal_volume
73pub_type
杂志文章abstract：:This paper describes a histochemical and histographic analysis of the masticatory muscles obtained from 78 early autopsy samples from subjects from 4 days to 87 years old. Five groups of muscles have been stuied: the temporalis, the medial and lateral pterygoid, the superficial bundle of the masseter and the mylohyoid...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(80)90163-x
更新日期：1980-03-01 00:00:00
abstract：:The primary angiitis of the central nervous system (PACNS) is a rare and potentially fatal form of vasculitis with unknown etiology. Headache and encephalopathy are the most frequent symptoms. Neuroimaging plays an important role in the diagnosis, but the pattern of abnormal findings is not specific. In some cases bra...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.05.014
更新日期：2011-08-15 00:00:00
abstract：:A case of chorea-acanthocytosis (CA) syndrome is described. The presence of acanthocytes has usually been considered an important diagnostic marker of CA. However, it is not specific and other neurological diseases have to be considered. In the present report we rule out other diagnostic possibilities and show that th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00005-2
更新日期：1999-03-01 00:00:00
abstract：:The stereotyped, episodic abnormal behaviour manifested by a child and her mother on exposure to a particular sort of sunlight is described in detail. The child is the first fully documented patient with this so-called "self-induced" form of photosensitive epilepsy in whom for several years no electroencephalographic ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90076-x
更新日期：1983-04-01 00:00:00
abstract：:Recordings have been made from afferent fibres shown to traverse a focal demyelinating lesion induced in the dorsal columns of the cat by the direct micro-injection of lysophosphatidyl choline. Many fibres were spontaneously active, discharging with steady frequencies between 15 and 45 impulses per second or dischargi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(82)90168-x
更新日期：1982-07-01 00:00:00
abstract：OBJECT:The aim of this study is to identify pre-operative clinical and/or radiological predictors of clinical failure of decompressive hemicraniectomy (DH) in the setting of malignant hemispheric infarction. These predictors could guide the decision for adjunctive internal brain decompression (e.g. strokectomy) at the ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.05.012
更新日期：2015-08-15 00:00:00
abstract：:We examined insulin-like growth factor I (IGF-I)-dependent phosphorylation and protein tyrosine kinase (PTK) activity in cerebellar cortex of normal humans, patients with olivopontocerebellar atrophy (OPCA) ("C" kindred) and in lurcher mutant mouse, a suggested animal model for OPCA. PTK activity and IGF-I-dependent p...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90008-6
更新日期：1994-06-01 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：:To assess the role of CSF oligoclonal bands (OB) in determining the clinical outcome in patients with relapsing-remitting multiple sclerosis (RRMS) treated with IFN-beta, we carried out a retrospective, multicentre, observational study recruiting 209 RRMS patients from six MS centres from northern, central and souther...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2006.01.004
更新日期：2006-05-15 00:00:00
abstract：:Nitrous oxide is routinely administered to children and adults with Charcot-Marie-Tooth disease (CMT) as an anaesthetic for procedures such as nerve conduction studies and maintenance for general anaesthesia. However it is listed as a 'moderate to significant' risk of potential toxicity and worsening neuropathy in peo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.12.004
更新日期：2008-05-15 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：:We present a patient with Parkinson's disease whose bilateral tremor transiently resolved after a unilateral left ventrolateral thalamotomy. The transient resolution of the bilateral tremor was associated with a focal thalamic lesion and a second lesion in the corpus callosum. The mechanism of this phenomenon may be r...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)00236-h
更新日期：1995-03-01 00:00:00
abstract：:Asia is the most populous region in the world and its rapidly growing societies are the sources of global development. However, accompanying this rapid growth is aging of the population with increasing occurrence of diseases, of which dementia is the most prominent, which provide major challenges to healthcare systems...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2012.07.023
更新日期：2012-10-15 00:00:00
abstract：:We measured the diameter of the most distal portion of the axonal initial segment, the neuronal size of anterior horn cells, and the length of the axon hillock plus the initial segment (AH+IS) in the lumbar spinal cord in motor neuron disease. Three patients with amyotrophic lateral sclerosis (ALS) and one with lower ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90017-f
更新日期：1992-07-01 00:00:00
abstract：:This study investigated the relation between severity of auditory comprehension impairment in aphasia and the functional integrity of the posterior superior temporal region as evaluated by middle- and long-latency auditory evoked potentials and dipole source analysis. AEPs were studied in 20 stroke patients and in age...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90064-6
更新日期：1993-03-01 00:00:00
abstract：OBJECTIVES:To determine the impact of disease progression on health-related quality of life in amyotrophic lateral sclerosis (ALS). METHODS:A total of 161 patients with ALS were enrolled. Assessments included the revised ALS Functional Rating Scale and the ALS Assessment Questionnaire (ALSAQ-40). Data analysis compris...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.12.035
更新日期：2019-02-15 00:00:00
abstract：BACKGROUND:Fatigue is a common non-motor symptom in Parkinson's disease patients. The reasons for its perception are not completely understood. One suggested possibility might be that perceived fatigue is related with abnormal interpretation of somatic symptoms. It has been described that somatic markers misinterpretat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.12.003
更新日期：2014-02-15 00:00:00
abstract：BACKGROUND AND PURPOSE:The progression of cognitive deterioration in patients with Alzheimer's disease (AD) is considerably variable. The ability to predict the progression rate is important for clinicians to treat and manage patients with AD. We examined the possible relationship between the rate of cognitive deterior...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2009.10.022
更新日期：2010-03-15 00:00:00
abstract：OBJECTIVE:To explore the role of cardiovascular risk factors and the different NOTCH-3 mutations to explain the variability observed in the clinical presentation of CADASIL. METHODS:This was a retrospective cohort study of 331 individuals, 90 were carriers of four mutations in the NOTCH3 gene. These four mutations are...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117178
更新日期：2020-12-15 00:00:00
abstract：BACKGROUND:The role of subthreshold depression (subD) in Parkinson's Disease (PD) is not clear. The present study aimed to compare the quality of life (QoL) in PD patients with subD vs patients with no depressive disorder (nonD). Factors related to subD were identified. MATERIAL AND METHODS:PD patients and controls re...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117109
更新日期：2020-11-15 00:00:00
abstract：:Altered functional connectivity has been associated with the influence of epileptic activity. Abnormalities in connectivity, particularly in dorsal attention (DAN), salience (SN) and default mode (DMN) networks, might contribute to the loss of consciousness during seizures and cognitive deficits in patients with child...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.04.054
更新日期：2015-07-15 00:00:00
abstract：OBJECTIVE:Delirium is an independent risk factor for cognitive impairment and development of dementia in medical patients. It has never been thoroughly studied whether this association is also present in the stroke population. Our aim was to evaluate the effects of delirium in the acute phase after stroke on cognitive ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.03.024
更新日期：2011-07-15 00:00:00
abstract：:In human and subhuman primates, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) produces irreversible clinical, biochemical and neuropathological alterations highly reminiscent of those observed in Parkinson's disease. The MPTP model has provided the best available tool to date for the assessment of efficacy and s...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(90)90225-c
更新日期：1990-07-01 00:00:00
abstract：:We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.11.023
更新日期：2009-03-15 00:00:00
abstract：:Mitochondrial DNA (mtDNA) abnormalities with primary pathogenic significance for optic nerve atrophy have been detected in inflammatory demyelinating conditions indistinguishable from multiple sclerosis (MS). However, the degree of involvement of mtDNA alterations in the pathogenesis of MS is not clear. To further cla...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(96)00112-8
更新日期：1996-09-01 00:00:00
abstract：:Primary progressive aphasia (PPA) is a group of disorders with progressive language impairment. Abnormal behaviour may develop in PPA as the disease evolves, but the clinical features and brain basis of behavioural change in PPA have not been fully defined. 33 PPA patients (9 semantic dementia, SD, 14 progressive nonf...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.03.012
更新日期：2010-06-15 00:00:00
abstract：:Neurological injuries produced by explosive blasts are the result of a cascade of events that begin with the initial explosion and evolve from the secondary, tertiary, and quaternary effects that the explosion engenders [Lavonis EJ. Blast Injuries. EMedicine.htm]. Only the results of the primary blast are predictable,...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2006.06.005
更新日期：2006-11-01 00:00:00
abstract：BACKGROUND:Single cases with hemispheric, cortical or subcortical, ischemic lesions presenting with rotational vertigo (RV), that challenge the notion of infratentorial or peripheral generation of RV have been published, but the incidence of this symptom in a larger series is unknown. The aim of this study was to inves...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.11.015
更新日期：2010-03-15 00:00:00
abstract：:Traumatic brain injury (TBI) is a considerable cause of mild cognitive impairment and dementia. Intranasal administration of nerve growth factor (NGF) has previously been found to improve cognitive function after TBI, but the mechanism remains unclear. This study aimed to investigate the effects of intranasal NGF on t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.06.037
更新日期：2014-10-15 00:00:00
abstract：BACKGROUND:Tumefactive demyelinating lesions (TDLs) are associated with a variety of demyelinating diseases in the central nervous system (CNS). However, there are no current guidelines describing how to classify and treat patients with this rare phenotype. Thus, the present study aimed to determine the long-term evolu...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.08.034
更新日期：2015-11-15 00:00:00
