Abstract：
:Two transgenic strains of mutant mice lacking hypoxanthine-guanidine phosphoribosyltransferase (HPRT) activity were examined behaviorally and neurochemically for phenotypic similarity to the human Lesch-Nyhan syndrome. In this syndrome, male children markedly deficient in the enzyme HPRT develop self-mutilation and severe motoric difficulties, and exhibit a pronounced deficiency of dopamine in the basal ganglia. The HPRT-deficient mice showed no evidence of self-mutilation, no detectable motor impairments on tests selected for sensitivity to basal ganglia dysfunction, and no differences in response to apomorphine. Biochemical analyses revealed significantly lower levels of striatal dopamine in the HPRT-deficient mice than in HPRT normal littermates, but the depletion was only of the order of 19%. The results suggest that mice lacking HPRT activity do not phenotypically resemble children born with the same enzymatic deficiency in part because mutant mouse striatal dopamine levels are not as low as those seen in clinical cases with Lesch-Nyhan disease. In contrast to Lesch-Nyhan children, mice may be able to utilize alternative pathways more effectively to maintain purine and neurotransmitter levels within the ranges required for normal brain development and function.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Finger S,Heavens RP,Sirinathsinghji DJ,Kuehn MR,Dunnett SBdoi
10.1016/0022-510x(88)90099-8subject
Has Abstractpub_date
1988-09-01 00:00:00pages
203-13issue
2-3eissn
0022-510Xissn
1878-5883pii
0022-510X(88)90099-8journal_volume
86pub_type
杂志文章abstract：:Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.01.069
更新日期：2017-04-15 00:00:00
abstract：:A case of demyelinating polyneuropathy is reported which was clinically and pathologically indistinguishable from the Guillain-Barré syndrome, with the exception that the symptoms progressed steadily for 7 months. Pathologically, the peripheral nerves and intraspinal roots showed selective demyelination with axonal sp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90038-7
更新日期：1977-05-01 00:00:00
abstract：OBJECTIVE:The purpose of this study is to identify predictors of stroke-related readmissions at 30days on a safety net hospital level and suggest interventions to reduce the number of readmissions. BACKGROUND:Hospital readmissions are an important measure of the quality of health care services. Readmissions indicate u...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.12.016
更新日期：2018-02-15 00:00:00
abstract：:Naturally occurring botulinum toxin (BoNT) serotypes have different pharmacological features of therapeutic and aesthetic interest. This phase 1, double-blind, placebo-controlled study (EudraCT: 2016-002609-20) assessed safety, tolerability and pharmacodynamics (PD) of the first recombinant BoNT serotype E (rBoNT-E) v...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.jns.2019.116516
更新日期：2019-12-15 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：:In view of the hypothesis that a biochemical abnormality in the childhood forms of neuronal ceroid-lipofuscinosis may lie in the utilization of dolichols in glycoprotein synthesis, we analyzed the oligosaccharide structures of brain glycoproteins in infantile neuronal ceroid-lipofuscinosis (INCL). Lectin affinity chro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90030-4
更新日期：1986-01-01 00:00:00
abstract：:Brainstem gliomas constitute 10% of brain tumors in children and less than 2% in adults. Since therapeutic options are limited and brainstem gliomas are associated with a high morbidity and mortality, we sought to analyze the prognostic factors associated with a better outcome. We reviewed the records of 86 patients w...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.03.009
更新日期：2009-06-15 00:00:00
abstract：OBJECTIVE:Sweating on the palms of the hands and soles of the feet, so-called emotional sweating, is considered to be mediated by the limbic system, including the amygdala and anterior cingulate cortex. To reveal involvement of the limbic system in emotional sweating, we evaluated emotional sweating on the palms in pat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.04.007
更新日期：2011-07-15 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：:We describe a case of a 50-year-old man with bilateral shoulder girdle weakness caused by anterior subdural hygroma secondary to a previous spontaneous CSF leak. The CSF leak occurred and resolved 16 years prior to presenting with a 6-year progressive painless, asymmetric proximal muscle weakness involving both upper ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.02.029
更新日期：2011-06-15 00:00:00
abstract：OBJECTIVE:Treatment of restless legs syndrome (RLS) is primarily based on drugs. Since many patients report improvement of symptoms due to cooling their legs, we examined the efficacy of cryotherapy in RLS. PATIENTS AND METHODS:35 patients (28 women, 60.9±12.5years) with idiopathic RLS and symptoms starting not later ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.jns.2016.09.006
更新日期：2016-11-15 00:00:00
abstract：:Experimental allergic neuritis has been induced in 52 guinea pigs by the inoculation of rabbit peripheral nerve in Freund's adjuvant. The majority of the animals developed an acute monophasic illness after a mean interval of 16 days and, if they survived, recovered fully after an average period of 52 days. Two animal...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90257-9
更新日期：1975-03-01 00:00:00
abstract：:In the case reported, an overproduction of aldosterone was accompanied by paretic attacks, a decrease in the serum potassium level, and in muscle tone and the deep tendon reflexes. The decrease of serum potassium level was consistent, but moderate, being to just below the normal lower limit. Loading with carbohydrate ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90017-x
更新日期：1977-07-01 00:00:00
abstract：:The purpose of the investigation was to elucidate the repeatedly discussed relationship between chronic lead intoxication and ALS. The following mean lead concentrations were determined in 9 patients with ALS: 8.65 +/- 3,91 micrograms/100 ml in the blood, 0.97 +/- 0.78 microgram/100 ml in the plasma, 19.15 +/- 5.0 mic...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90051-5
更新日期：1983-09-01 00:00:00
abstract：:The inflammation plays a critical role in the stroke onset and even in the worsening of the lesions. Therefore, the investigation of inflammatory response in the acute stage may contribute to improve the treatment of ischemic stroke. High-sensitive CRP (hsCRP), IL-6 and TNFalpha were measured as inflammatory markers o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.03.020
更新日期：2008-08-15 00:00:00
abstract：INTRODUCTION:Palinacousis is a paroxysmal auditory illusion in which perseveration of an external auditory stimulus occurs after cessation of the stimulus. The subjects recognize the illusory nature of this experience, which is often a fragment of the last sentence they heard. Palinacousis has been reported in only a f...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2012.02.016
更新日期：2012-06-15 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：:Data of 2399 brain weights and ages from populations before 1880, 1885 to 1900 and 1966 to 1976 were obtained from German anatomical and pathological institutes, analyzed with non-linear and multiple linear regression analyses and the results compared. The influence of the absolute age (sample period) on brain weights...
journal_title：Journal of the neurological sciences
pub_type： 历史文章,杂志文章
doi：10.1016/0022-510x(79)90202-8
更新日期：1979-02-01 00:00:00
abstract：:Neuropathy has been frequently reported in patients with IgG monoclonal gammopathy of undetermined significance (MGUS) but it is still unclear whether this association has clinical or pathogenetic relevance. In order to clarify the possible role of IgG MGUS in the neuropathy we correlated the clinical and electrophysi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(99)00049-0
更新日期：1999-03-15 00:00:00
abstract：BACKGROUND:Paraneoplastic neurological syndromes (PNS) are poorly described in patients without onconeural antibodies and in patients with non-small cell lung cancer (NSCLC). We compared the clinical characteristics of PNS in lung cancer patients with and without onconeural antibodies. METHODS:Medical records from pat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.10.040
更新日期：2015-01-15 00:00:00
abstract：:The optimal treatment for secondary prevention in patients who have a patent foramen ovale (PFO) and history of cryptogenic stroke is still uncertain and controversial. In view of this, we performed a systematic review of randomized controlled trials (RCTs) to investigate whether PFO closure was superior to medical th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2013.11.027
更新日期：2014-02-15 00:00:00
abstract：BACKGROUND:The aims of this paper are: 1) to present the data of systemic thrombolysis for ischemic stroke in five Croatian centers from July 2008 till January 2010; 2) to compare the results between centers and; 3) to compare data with previously published results from 2006 to 2008 period from our center, and with the...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.10.008
更新日期：2012-03-15 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：:Transient global amnesia is a well-described clinical syndrome; however, the pathophysiology is perplexing. Structural imaging indicates that punctuate hippocampal lesions are the representative pathophysiology, although functional neuroimaging studies have reported that the various regions comprising the episodic mem...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.05.035
更新日期：2016-09-15 00:00:00
abstract：:Two of the more consistent findings in Alzheimer's disease are depressions in frontal and temporoparietal glucose metabolism and a loss of cholinergic neurons in the nucleus basalis of Meynert. Nonetheless, cholinergic replacement strategies have had only minimal therapeutic successes. Whether this situation reflects ...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/0022-510x(94)90202-x
更新日期：1994-05-01 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：INTRODUCTION:Brain metal accumulation is suggested in the pathogenesis of numerous neurodegenerative disorders. In Wilson's disease (WD), only copper has been examined. The aim of the present study was to evaluate the copper, iron, manganese, and zinc concentrations in autopsy tissue samples from the brains of WD patie...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.03.021
更新日期：2013-06-15 00:00:00
abstract：:Common pathogenic mechanisms may be involved in the prevalence of ischemic stroke and coronary heart disease. Recently, genome-wide association (GWA) studies identified a chromosome region (9p21) that confers the risk of coronary heart disease. In a hospital-based case-control study conducted in Chinese Hans, we teste...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.04.013
更新日期：2009-09-15 00:00:00
abstract：:The Clausen modification of the peripheral blood buffy coat leukocyte migration test was used to test patients with multiple sclerosis, normal subjects and patients with other neurologic diseases for cell-mediated immunity to commercial measles virus, purified nuclear core material from a human neurotropic strain of m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90026-5
更新日期：1976-07-01 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
