Abstract:
:Five males in one kindred suffered from intermittent ataxia and one female may have been more mildly affected. The pattern of inheritance strongly suggests X-linkage. Cerebral pathology in one case had some features of Leigh's disease. A defect in pyruvate metabolism was found in two cases. Acetazolamide gave a temporary clinical and biochemical improvement in two cases.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Livingstone IR,Gardner-Medwin D,Pennington RJdoi
10.1016/0022-510x(84)90059-5subject
Has Abstractpub_date
1984-04-01 00:00:00pages
89-97issue
1eissn
0022-510Xissn
1878-5883pii
0022-510X(84)90059-5journal_volume
64pub_type
杂志文章abstract::We studied the effects of 0.2 Hz repetitive transcranial magnetic stimulation (rTMS) successively performed 6 times for 2 weeks in 12 patients with idiopathic Parkinson's disease (PD). Ten patients received rTMS to the bilateral frontal cortex (frontal rTMS) and six patients received rTMS to the bilateral occipital co...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/s0022-510x(02)00459-8
更新日期:2003-05-15 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::gamma-Aminobutyric acid (GABA), substance P and dopamine concentrations and choline acetyltransferase (ChAT) activity were measured in post-mortem cerebrocortical and basal ganglial areas of 14 controls and 4 patients with pathologically verified Pick's disease (1 classic case and 3 cases of the generalized form). GAB...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(88)90020-2
更新日期:1988-01-01 00:00:00
abstract::The relationship between dementia with Lewy bodies (DLB) and Parkinson's disease with dementia (PDD) has been insufficiently described, and it is still problematic. Twenty-nine cases of DLB and 10 cases of PDD were investigated in the present study. DLB cases disclosed a significantly older disease onset and shorter d...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(03)00220-x
更新日期:2003-12-15 00:00:00
abstract::We have used a mouse model of herpes simplex encephalitis produced by intranasal inoculation of virus to study the expression of viral immediate early, early and late genes and latency associated transcript (LAT) in trigeminal ganglia and brain at various times after inoculation. A PCR technique was used to detect the...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90068-x
更新日期:1994-12-20 00:00:00
abstract:BACKGROUND:Chorea is a common presenting feature of metabolic disorders, including nonketotic hyperglycemia in patients with type 2 diabetes mellitus, but rarely has been reported in diabetic ketoacidosis, hypothyroidism and vitamin B12 deficiency. METHODS:Review the literature for reported cases of chorea as a presen...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.04.038
更新日期:2014-07-15 00:00:00
abstract::Sensory ataxia in inorganic germanium intoxication is rare. A 63-year-old housewife had taken inorganic germanium preparations at a dosage of 36 mg a day for about 6 years (total dose about 80 g). She subsequently developed difficulty in writing and gait disturbance with peripheral neuropathy and renal involvement. Ge...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00032-w
更新日期:1995-06-01 00:00:00
abstract::Gait impairment is one of the most frequent and life-altering consequences of Multiple sclerosis (MS), frequently associated with lower limb spasticity. Focal muscle vibration (fMV) is a technique that applies a vibratory stimulus to a specific muscle or its tendon, reducing spasticity. The aim of our study is to eval...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.11.025
更新日期:2017-01-15 00:00:00
abstract:BACKGROUND:Clonazepam is considered to be a first-line treatment for rapid eye movement sleep-related behavior disorder (RBD) in Parkinson's disease (PD). The purpose of this study was to determine the short-term efficacy and safety of clonazepam for the treatment of probable RBD (pRBD) in patients with PD. METHODS:We...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jns.2019.04.029
更新日期:2019-06-15 00:00:00
abstract::Immunologically pure IgG was isolated from serum of multiple sclerosis (MS) patients and normal controls. The F(ab)2 moiety of IgG was then isolated by salting out between 12.5 and 19.0% Na2SO4 of the pepsin digest of IgG. The ability of the 131I-labelled F(ab)2 to bind to subcellular brain fractions (nuclei, synaptos...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(83)90063-1
更新日期:1983-08-01 00:00:00
abstract::Post-streptococcal neuropsychiatric disorders encompass a broad spectrum of movement disorders, including tics, stereotypies, dystonia and tremor. We report the case of a 15-year-old boy who presented with a relapsing-remitting combination of psychogenic and organic movement disorders. Both relapses occurred after an ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.10.004
更新日期:2010-01-15 00:00:00
abstract:OBJECTIVES:To show that EEG markers formed using the variable percent recurrence reliably quantified two related aspects of sleep quality, sleep depth and sleep fragmentation. As hypotheses, the depth marker would increase and the fragmentation marker decrease in patients where improved sleep quality occurred when asse...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.04.019
更新日期:2013-08-15 00:00:00
abstract::Migraine is an independent risk factor for ischemic stroke, mainly in the subpopulation of women with migraine with aura who are younger than 45 years, particularly those that use estrogen containing oral contraceptives. Migraine however should be considered a benign condition as the absolute increase of stroke risk i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2009.02.333
更新日期:2009-08-15 00:00:00
abstract::In 1977 and 1978 Cook and his associates demonstrated a positive association between ownership of small dogs and both familial and sporadic cases of multiple sclerosis in New Jersey. Because of the far reaching implications of this work, a similar study was carried out and 72 patients with clinically definite multiple...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(82)90133-2
更新日期:1982-09-01 00:00:00
abstract::There are many tools for differentiating between multiple system atrophy with predominant parkinsonian features (MSA-P) and Parkinson's disease (PD). These include middle cerebellar peduncle (MCP) width, apparent diffusion coefficient (ADC) value of the putamen and cerebellum, and (123)I-metaiodobenzylguanidine (MIBG)...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.06.061
更新日期:2016-09-15 00:00:00
abstract::Theory of Mind is an important concept within social cognition and refers to the ability to attribute mental states to oneself and others. Other terms for this concept include mentalizing and mind reading. Deficits in Theory of Mind may contribute to behavioral abnormalities, such as paranoia and delusions that are co...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2011.06.004
更新日期:2011-11-15 00:00:00
abstract::Hemichorea associated with carotid artery occlusive disease is extremely rare. It has been recently suggested that carotid artery stenosis should be considered in the differential diagnosis of chorea, even in the absence of a preceding stroke or transient ischemic attack. Although the pathophysiology of this condition...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.08.068
更新日期:2011-01-15 00:00:00
abstract::Multiple sclerosis is a chronic inflammatory disease of the white and grey matter which results in irrevocable axonal and neuronal damage. Grey matter injury is widespread and reflects disability to a greater extent than do white matter lesions. Growing understanding of the immunopathology of multiple sclerosis is lea...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/S0022-510X(11)70003-X
更新日期:2011-12-01 00:00:00
abstract::A Finnish family is described with 9 cases of presenile dementia in 3 generations. The mean age at onset was 52 years (range 46--62 years). Progressive dementia, upper motor neuron signs, muscular rigidity, and twitching, irregular tremors were consistent features in the 6 clinically investigated patients and were ass...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(79)90171-0
更新日期:1979-08-01 00:00:00
abstract::Increased resistance to ischemic nerve conduction failure (RINCF) has been demonstrated in the spontaneously diabetic BB Wistar rat as well as in non-insulin dependent but hyperglycemic litter-mates. There is marked variability in the severity of the ischemic resistance in insulin dependent rats but not in the non-ins...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90161-5
更新日期:1989-10-01 00:00:00
abstract::The frequency of senile plaques and neurofibrillary tangles and the number of pyramidal neurones and the volume of their nucleolus were measured in temporal cortex (middle temporal gyrus) and hippocampus (area h1) of 32 patients with Alzheimer's disease. Plaques and tangles were greatly increased in frequency in these...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(85)90129-7
更新日期:1985-07-01 00:00:00
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::We evaluated the efficacy of low-dose, add-on therapy of CLB in adults with refractory epilepsy. 28 patients were included: 12 with temporal lobe epilepsy (TLE), 14 with extratemporal lobe epilepsy (ETLE) and 2 with symptomatic generalized epilepsy (SGE). CLB was added with the initial dose of 2.5 mg/day and increased...
journal_title:Journal of the neurological sciences
pub_type: 临床试验,杂志文章
doi:10.1016/j.jns.2007.05.025
更新日期:2007-12-15 00:00:00
abstract:BAKGROUND:Hereditary Spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of degenerative disorders characterized by progressive spasticity and weakness of the lower limbs. This study aimed to identify causative gene variants in two unrelated consanguineous Pakistani families presented with 2...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2020.116669
更新日期:2020-04-15 00:00:00
abstract::A blink reflex consists of an early unilateral component, R1, and a late bilateral component, R2. During an acute phase of hemispheric cerebrovascular accident, R1 and R2 were abnormal in 30 and 50 of 66 patients, respectively. Paired stimuli usually corrected R1 but not R2, which was profoundly suppressed. The discre...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(85)90018-8
更新日期:1985-01-01 00:00:00
abstract::A broad spectrum of immunologic parameters was investigated in 13 cases of myotonic muscular dystrophy (MyD), including those for cellular immunity which has attracted little attention in the past. One was a 46-year-old woman having both MyD and a thymoma. This association between MyD and thymoma is probably coinciden...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(80)90007-6
更新日期:1980-08-01 00:00:00
abstract::Multiple sclerosis (MS) patients have been considered a higher-risk population for COVID-19 due to the high prevalence of disability and disease-modifying therapy use; however, there is little data identifying clinical characteristics of MS associated with worse COVID-19 outcomes. Therefore, we conducted a multicenter...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jns.2020.117147
更新日期:2020-11-15 00:00:00
abstract::The ability of galantamine (Reminyl) to inhibit the aggregation and toxicity of the beta-amyloid peptide (Abeta) was investigated. Galantamine showed concentration-dependent inhibition of aggregation of both Abeta 1-40 and Abeta 1-42, as determined by an ELISA method. Electron microscope studies of Abeta 1-40 incubate...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2009.01.024
更新日期:2009-05-15 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
abstract::The objective of this article has been to describe the presence of a sensory neuronopathy in a patient harbouring ataxia with oculomotor apraxia type 2 (AOA2). A 40 year-old woman, born to consanguineous parents, presented with ataxia, decreased vibration sense, areflexia, indifferent plantar responses, preserved musc...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2010.09.004
更新日期:2010-11-15 00:00:00