Abstract:
:The phenotypic manifestation of McArdle disease varies considerably from one individual to the next. The purpose of this study was to assess the possible association between the clinical severity of the disease, and each of the genotypes PYGM (R50X), ACE (I/D), AMPD1 (Q12X), PPARGC1A (G482S) and ACTN3 (R577X). We also assessed links between clinical disease severity and other potential phenotype modulators such as age or gender. McArdle disease was diagnosed in 99 patients of Spanish origin (60 male, 39 female; age range 8-81 years) by identifying the two mutant alleles of the PYGM gene. Disease severity was assessed using the grading scheme previously reported by Martinuzzi et al. [A. Martinuzzi, E. Sartori, M. Fanin, et al., Phenotype modulators in myophosphorylase deficiency, Ann. Neurol. 53 (2003) 497-502]. Significant correlation was observed (exact two-sided P<0.0001) between the number of D alleles of the ACE gene and the disease severity score. Rank-order correlation coefficients were 0.296 (95% CI: 0.169, 0.423) (Kendall's tau) and 0.345 (95% CI: 0.204, 0.486) (Somer's D). No significant relationships were detected between clinical severity and the remaining genotypes examined. Finally, disease severity was significantly worse in women with the disease. Our findings indicate that both ACE genotype and gender contribute to how McArdle disease manifests in an individual patient. The role of other candidate genes remains to be elucidated.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Rubio JC,Gómez-Gallego F,Santiago C,García-Consuegra I,Pérez M,Barriopedro MI,Andreu AL,Martín MA,Arenas J,Lucia Adoi
10.1016/j.neulet.2007.06.025subject
Has Abstractpub_date
2007-07-18 00:00:00pages
217-22issue
3eissn
0304-3940issn
1872-7972pii
S0304-3940(07)00726-4journal_volume
422pub_type
杂志文章abstract::Following the i.c.v. administration of antivasopressin serum the alpha-MPT-induced disappearance of noradrenaline was decreased in the dorsal septal nucleus, parafascicular nucleus and the rostral part of the nucleus tractus solitarii, whereas that of dopamine was lowered in the caudate nucleus and in the A2 region of...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(79)90058-2
更新日期:1979-01-01 00:00:00
abstract::Aluminum and zinc are two important trace elements in an organism. Although several studies have demonstrated their impacts on the intelligence, very little was known about their effects on the integrity of blood-brain barrier (BBB). To study the effects of aluminum and zinc on the permeability of BBB, different doses...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2008.08.081
更新日期:2008-11-07 00:00:00
abstract::Galectin-3 is a β-galactosidase-binding lectin which is important in cell proliferation and apoptotic regulation. Encephalomyocarditis virus (EMCV), which includes the Enterovirus genus, can cause not only acute myocarditis but also neuronal degeneration of central nervous system in various animals including mice. The...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2015.02.061
更新日期:2015-04-10 00:00:00
abstract::The depth and complexity of the non-coding transcriptome in nervous system tissues provides a rich substrate for adenosine de-amination acting on RNA (ADAR). Non-coding RNAs (ncRNAs) serve diverse regulatory and computational functions, coupling signal flow from the environment to evolutionarily coded analog and digit...
journal_title:Neuroscience letters
pub_type: 杂志文章,评审
doi:10.1016/j.neulet.2009.09.009
更新日期:2009-12-04 00:00:00
abstract::Event-related brain potentials (ERPs) demonstrate that human auditory cortical responses are sensitive to changes in static pitch as indexed by the pitch onset response (POR), a negativity generated at the initiation of acoustic periodicity. Yet, it is still unclear if this brain signature is sensitive to dynamic, tim...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2015.07.018
更新日期:2015-08-31 00:00:00
abstract::The present study was designed to test the hypothesis that administration of low extracellular levels of magnesium ions ([Mg(2+)](o)) to primary cultured cerebral vascular smooth muscle cells will cause lipid peroxidation, degradation of IkappaB-alpha, and activation of nuclear transcription factor kappa B (NF-kappaB)...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(03)00134-4
更新日期:2003-05-08 00:00:00
abstract::The alternation of sounds in the left and right ears induces motion perception of a static visual stimulus (SIVM: Sound-Induced Visual Motion). In this case, binaural cues were of considerable benefit in perceiving locations and movements of the sounds. The present study investigated how a spectral cue - another impor...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2010.05.065
更新日期:2010-08-02 00:00:00
abstract::Differences between neural processing underling day and night vision occur at initial transduction steps. However, comparison of a visual task performance in photopic versus scotopic situations has an intrinsic problem: ambient light levels directly affect the contrast between stimuli and background. By using a simple...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2005.09.033
更新日期:2006-01-23 00:00:00
abstract::We used whole-head magnetoencephalography to investigate cortical activity during two oromotor activities foundational to speech production. 13 adults performed mouth opening and phoneme (/pa/) production tasks to a visual cue. Jaw movements were tracked with an ultrasound-emitting device. Trials were time-locked to b...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2012.08.030
更新日期:2012-10-03 00:00:00
abstract::Daily administration of clonidine for 5 weeks (approx. 300 micrograms/kg/day, p.o.) produced significant decreases in blood pressure and renal sympathetic efferent activity in spontaneously hypertensive rats (SHR). After cessation of clonidine administration, blood pressure and sympathetic nerve activity recovered rap...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(79)96121-4
更新日期:1979-12-01 00:00:00
abstract::The cingulum, a major structure of the limbic system, is closely associated with memory function. In the current study, we investigated aging of the cingulum according to the location of the cingulum in each part of the cingulum after dividing the cingulum into five parts in normal subjects, using DTT parameters (frac...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2015.11.018
更新日期:2016-01-01 00:00:00
abstract::The effects of Sr2+ on the transmitter release at the frog neuromuscular junction were examined electrophysiologically. The nerve trunk was stimulated by paired pulses at various time intervals after replacing extracellular Ca2+ by Sr2+, the paired-pulse facilitation at the 10 ms interval was smaller than that at 20-3...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(99)00767-3
更新日期:1999-11-19 00:00:00
abstract::Subpopulations of cultured oligodendrocytes from mouse spinal cord respond with depolarization to glutamate and GABA. Heterogeneity in the oligodendrocyte population was indicated by the observation that some cells respond to both GABA and glutamate, while others respond to only one and some are not responsive to eith...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(84)90525-1
更新日期:1984-06-29 00:00:00
abstract::Physiological and histochemical studies have clearly demonstrated the control and innervation of the sympathetic nerve on the splanchnic veins. However, the origins of postganglionic fibers remain to be determined. In this study, we used the retrograde transport of horseradish peroxidase (HRP) technique to trace the o...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(94)90178-3
更新日期:1994-05-23 00:00:00
abstract::Crickets (Gryllus bimaculatus) use the cercal sensory system at the rear of the abdomen to detect air currents and direct predator avoidance behavior. Sensory information regarding the direction and dynamic properties of air currents is processed within the terminal abdominal ganglion, and conveyed by ascending giant ...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2014.10.042
更新日期:2015-01-01 00:00:00
abstract::Phencyclidine (PCP) is known to be an inhibitor of serotonin (5-HT) uptake and to increase serotonergic activity. The development of tolerance to serotonergic stereotyped behaviors induced by repeated PCP treatment and changes of 5-HT transporters were examined. Backpedalling was significantly reduced in frequency fol...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(99)00991-x
更新日期:2000-02-11 00:00:00
abstract::Buyang Huanwu Decoction (BYHWD), a traditional Chinese medicine, has been developed as a drug to be used for treatment of stroke for hundreds of years. However, the underlying mechanisms remain unknown. In the present study, the effects of BYHWD on delayed neuronal death of hippocampus after transient forebrain ischem...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(03)00522-6
更新日期:2003-07-31 00:00:00
abstract::Recent reports have suggested that variability in the alpha2-macroglobulin gene is a genetic risk factor for Alzheimer's disease. Here we have both tested a common polymorphism in the gene (I1000V) for association with the disease in a four-site case control study design, and tested the locus for linkage in a large se...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(99)00035-x
更新日期:1999-03-05 00:00:00
abstract::Cyclophosphamide (CP) has been used as an antitumour agent or immunosuppressant clinically, though the potential biological role of CP in the central nervous system (CNS) has not been clarified. In the present study, we found that pretreatment with CP prevented neuronal cell death caused by serum deprivation in cultur...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2009.12.073
更新日期:2010-02-12 00:00:00
abstract::Human monocytes and a variety of tissue macrophages, including microglia, were studied immunohistochemically to determine the expression of a novel microglial marker, human glucose transporter 5 (hGLUT5), in these cells. The hGLUT5 was not expressed in most peripheral macrophages in the normal state, but weakly expres...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(02)01332-0
更新日期:2003-02-20 00:00:00
abstract::Satellite glial cells (SGCs) surround the neurons in sympathetic ganglia and are believed to make important contributions to the function of the ganglia under normal and pathological conditions. It has been proposed that SGCs communicate chemically with the neurons, but little is known about their pharmacological prop...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2018.01.051
更新日期:2018-04-03 00:00:00
abstract::Recent findings from our and other laboratories indicate that cell cycle-related phenomena may play a key role in the formation of Alzheimer-type pathology and neuronal cell death in both Alzheimer's and cerebro-vascular diseases. In this study we examine the expression patterns of cyclins A, B1, D1 and E in neuronal ...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(99)00509-1
更新日期:1999-08-13 00:00:00
abstract::In order to search for compounds mimicking the neurotrophic activities, a series of substances possessing the guanidine group of isaxonine (2-isopropylamino-pyrimidine), were synthesized and tested for their ability to induce neurite outgrowth in cultures of explants of rat dorsal root ganglia. It is reported that sev...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(93)90482-z
更新日期:1993-04-02 00:00:00
abstract:AIMS:To test the hypothesis that uridine 5'-triphosphate (UTP) had a protective effect on cerebral ischemia reperfusion (IR) injury in rats. METHODS:Ischemia was induced by intraluminal suture of middle cerebral artery occlusion (MCAO). UTP solution was delivered through an indwelling tail venous catheter via microinf...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2009.08.076
更新日期:2009-11-06 00:00:00
abstract::Alterations of Ca2+ homeostasis have been reported for both fibroblasts and T-lymphocytes of patients with Alzheimer's disease (AD). Considering the importance of K+ conductances for the cellular Ca2+ regulation and the recently reported absence of a K+ channel in Alzheimer fibroblasts, we investigated K+ currents in ...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(95)12243-5
更新日期:1996-01-05 00:00:00
abstract::Intracellular recordings were used to examine the mechanisms underlying the 5-hydroxytryptamine (5-HT)4 receptor-mediated depolarization seen in CA1 region pyramidal cells in in vitro hippocampal brain slices. This depolarization was mimicked and occluded by administration of the membrane permeable cyclic adenosine mo...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(02)00113-1
更新日期:2002-05-10 00:00:00
abstract::From the effects of selective lesions it is concluded that opiate receptors are located on dopamine (DA) cell-bodies and/or dendrites as well as on GABA nerve-terminals in substantia nigra. ...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(79)96056-7
更新日期:1979-05-01 00:00:00
abstract::The survival of identified retinal ganglion cells (RGGs) in vitro increased when they were plated over subcultured monolayers of astrocytes. Immunofluorescence labelling of these monolayers showed that over 85% of the cells were glial fibrillary acidic protein (GFAP) positive and consisted of large, flat immature astr...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(85)90512-9
更新日期:1985-06-24 00:00:00
abstract::The first psychotic episode is classically viewed as a critical period which management is important in determining the long-term outcome of the schizophrenia (SCZ). For this reason, the duration of untreated illness (DUI), defined as the interval between the onset of the psychiatric disorder and the administration of...
journal_title:Neuroscience letters
pub_type: 杂志文章,评审
doi:10.1016/j.neulet.2016.10.003
更新日期:2018-03-16 00:00:00
abstract::6-hydroxydopamine (6-OHDA) is usually thought to cross cell membrane through dopamine uptake transporters, to inhibit mitochondrial respiration and to generate intracellular reactive oxygen species. In this study, we show that the anti-oxidants catalase, glutathione and N-acetyl-cysteine are able to reverse the toxic ...
journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/s0304-3940(00)00948-4
更新日期:2000-04-14 00:00:00