Abstract:
:Rett Syndrome (RTT) is a neurodevelopmental disorder caused by loss of function of the transcriptional regulator Methyl-CpG-Binding Protein 2 (MeCP2). In addition to the characteristic loss of hand function and spoken language after the first year of life, people with RTT also have a variety of physiological and autonomic abnormalities including disrupted breathing rhythms characterized by bouts of hyperventilation and an increased frequency of apnea. These breathing abnormalities, that likely involve alterations in both the circuitry underlying respiratory pace making and those underlying breathing response to environmental stimuli, may underlie the sudden unexpected death seen in a significant fraction of people with RTT. In fact, mice lacking MeCP2 function exhibit abnormal breathing rate response to acute hypoxia and maintain a persistently elevated breathing rate rather than showing typical hypoxic ventilatory decline that can be observed among their wild-type littermates. Using genetic and pharmacological tools to better understand the course of this abnormal hypoxic breathing rate response and the neurons driving it, we learned that the abnormal hypoxic breathing response is acquired as the animals mature, and that MeCP2 function is required within excitatory, inhibitory, and modulatory populations for a normal hypoxic breathing rate response. Furthermore, mice lacking MeCP2 exhibit decreased hypoxia-induced neuronal activity within the nucleus tractus solitarius of the dorsal medulla. Overall, these data provide insight into the neurons driving the circuit dysfunction that leads to breathing abnormalities upon loss of MeCP2. The discovery that combined dysfunction across multiple neuronal populations contributes to breathing dysfunction may provide insight into sudden unexpected death in RTT.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Ward CS,Huang TW,Herrera JA,Samaco RC,McGraw CM,Parra DE,Arvide EM,Ito-Ishida A,Meng X,Ure K,Zoghbi HY,Neul JLdoi
10.3389/fneur.2020.593554subject
Has Abstractpub_date
2020-10-30 00:00:00pages
593554issn
1664-2295journal_volume
11pub_type
杂志文章abstract::Neurocysticercosis (NC) is the most common parasitic infection of the central nervous system (CNS). Several studies have reported an association between NC and mesial temporal lobe epilepsy (MTLE). We intended to evaluate the frequency of hippocampal atrophy (HA), clinical evolution and imaging findings in patients wi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00449
更新日期:2019-04-30 00:00:00
abstract::Different subtypes of Alzheimer's disease (AD) with characteristic distributions of neurofibrillary tangles and corresponding brain atrophy patterns have been identified using structural magnetic resonance imaging (MRI). However, the underlying biological mechanisms that determine this differential expression of neuro...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00524
更新日期:2019-05-28 00:00:00
abstract::Objective: To explore the clinical features and correlates of excessive daytime sleepiness (EDS) in a Chinese population of Parkinson's disease (PD) patients. Methods: Patients with clinically established or clinically probable PD were recruited. Clinical and demographic data were collected, and participants were eval...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00121
更新日期:2019-02-19 00:00:00
abstract::Parkinson's disease (PD) is a common neurodegenerative disorder characterized by loss of dopamine neurons. Since a seminal report was published in the early twentieth century, a growing body of literature has suggested that patients with PD display characteristic personality traits, such as cautiousness and inflexibil...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00378
更新日期:2018-05-24 00:00:00
abstract::Background/Objective: Stroke is a leading global cause of adult disability. As the population ages as well as suffers co-morbidities, it is expected that the stroke burden will increase further. There are no established safe and effective restorative treatments to facilitate a good functional outcome in stroke patient...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00235
更新日期:2019-03-26 00:00:00
abstract::Spinal muscular atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of motor neurons in the spinal cord, and comprises a broad clinical spectrum. With the advent of new therapies (e.g., Nusinersen) for patients of all ages and disease stages, sensitive clinical measures are needed to det...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00139
更新日期:2020-02-25 00:00:00
abstract::Background: Disorders of consciousness are challenging to diagnose, with inconsistent behavioral responses, motor and cognitive disabilities, leading to approximately 40% misdiagnoses. Heart rate variability (HRV) reflects the complexity of the heart-brain two-way dynamic interactions. HRV entropy analysis quantifies ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00769
更新日期:2018-09-12 00:00:00
abstract::Background: Studies have investigated the lipid profile in amyotrophic lateral sclerosis (ALS), including the levels of total cholesterol (TC), triglyceride (TG), high-density lipoprotein (HDL), and higher low-density lipoprotein (LDL), and the associations with mortality of ALS, but the results were inconsistent. The...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.567753
更新日期:2020-10-15 00:00:00
abstract::Stroke is a leading cause of death and disability, and recombinant tissue plasminogen activator (rtPA) can significantly reduce the long-term impact of acute ischemic stroke (AIS) if given within 3 h of symptom onset. South Carolina is located in the "stroke belt" and has a high rate of stroke and stroke mortality. Ma...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00044
更新日期:2012-03-21 00:00:00
abstract:OBJECTIVE:Evaluate medical students' communication and professionalism skills from the perspective of the ambulatory patient and later compare these skills in their first year of residency. METHODS:Students in third year neurology clerkship clinics see patients alone followed by a revisit with an attending neurologist...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00098
更新日期:2012-06-20 00:00:00
abstract::Background: The causal relationship between serum lipid levels and the risk of Parkinson's disease (PD) remains largely uncertain. We summarized the existing controversial evidence on this topic. Methods: We searched the electronic databases for observational studies from January 1988 to March 2020. We applied random-...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00597
更新日期:2020-06-26 00:00:00
abstract::Background: For the preoperatively often required confirmation of clinically defined carpal tunnel syndrome (CTS), sensory as well as motor nerve conduction studies can be applied. The aim of this study was to test the sensitivity of specific motor nerve conduction tests in comparison with, as well as in addition to, ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00149
更新日期:2019-03-14 00:00:00
abstract::Background: Differentiating idiopathic Parkinson's disease (IPD) from atypical Parkinsonian disorders (APD) is challenging, especially in early disease stages. Postural instability and gait difficulty (PIGD) are substantial motor impairments of IPD and APD. Clinical evidence implies that patients with APD have larger ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00005
更新日期:2019-01-22 00:00:00
abstract:BACKGROUND:Neurological complications are common after orthotopic liver transplantation (OLT). We aimed to characterize the risk factors associated with neurological complications and mortality among patients who underwent OLT in the post-model for end-stage liver disease (MELD) era. METHODS:In a retrospective review,...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00275
更新日期:2014-12-17 00:00:00
abstract::Purpose: Cardiac [123I]metaiodobenzylguanidine scintigraphy (123I-MIBG), reflecting postganglionic cardiac autonomic denervation, is proposed for early detection of Parkinson's disease (PD; reduced tracer uptake) and separation from Multiple System Atrophy (MSA; preserved tracer uptake). However, several recent studie...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00152
更新日期:2019-02-26 00:00:00
abstract::Non-motor symptoms of Parkinson's disease (PD) have been receiving increasing attention. Approximately half of patients with PD have experience PD-related pain. We investigated the effect and mechanism of acupuncture in patients with PD who have pain. PD patients with pain were divided into acupuncture group and contr...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01114
更新日期:2019-10-22 00:00:00
abstract::Objectives: To assess the ability of 3D amide proton transfer weighted (APTw) imaging based on magnetization transfer analysis to discriminate between multiple sclerosis lesions (MSL) and white matter hyperintensities of presumed vascular origin (WMH) and to compare APTw signal intensity of healthy white matter (healt...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01307
更新日期:2019-12-10 00:00:00
abstract::We previously reported that persistent application of the non-specific cholinergic agonist carbachol (CAR) increased the frequency of calcium channel-mediated oscillatory activity in pedunculopontine nucleus (PPN) neurons, which we identified as dependent on voltage-gated, high-threshold P/Q-type channels. Here, we te...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00176
更新日期:2013-11-06 00:00:00
abstract::Epilepsy is a common neurological disorder that affects over 70 million people worldwide. Despite the recent introduction of new antiseizure drugs (ASDs), about one-third of patients with epilepsy have seizures refractory to pharmacotherapy. Early identification of patients who will become refractory to ASDs could hel...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00301
更新日期:2017-07-06 00:00:00
abstract:UNLABELLED:α(2)-adrenoceptors (AR) lower central sympathetic output and peripheral catecholamine release, thereby protecting against sympathetic hyperactivity and hypertension. Norepinephrine re-uptake-transporter effectively (NET) removes norepinephrine from the synapse. Overflow to plasma will therefore not reflect r...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00160
更新日期:2012-11-08 00:00:00
abstract::Skeletal muscle is an essential regulator of energy homeostasis and a potent coordinator of exercise-induced adaptations in other organs including the liver, fat or the brain. Skeletal muscle-initiated crosstalk with other tissues is accomplished though the secretion of myokines, protein hormones which can exert autoc...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00698
更新日期:2018-08-24 00:00:00
abstract::Background: Ischemic cerebral infarction is a severe clinical condition that can cause serious mortality. Artesunate, an anti-malarial drug that is widely used in cancer treatment, is known to facilitate accelerated cell apoptosis. The aim of this study is to explore the possible neuroprotective effects of artesunate ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00634
更新日期:2018-08-17 00:00:00
abstract::We previously identified a distinct mutation pattern in the antibody genes of B cells isolated from cerebrospinal fluid (CSF) that can identify patients who have relapsing-remitting multiple sclerosis (RRMS) and patients with clinically isolated syndromes who will convert to RRMS. This antibody gene signature (AGS) wa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00166
更新日期:2014-09-16 00:00:00
abstract::Background: Distal posterior inferior cerebellar artery (PICA) aneurysms are uncommon intracranial vascular lesions. The coincidence of these aneurysms and Arteriovenous malformation (AVM) is even more rare. Since 1956, a total of 57 cases of distal PICA aneurysms associated with AVM have been reported with clear and ...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.611377
更新日期:2020-12-18 00:00:00
abstract::Over the last two decades, many experimental and clinical studies have provided solid evidence that alpha-synuclein (α-syn), a small, natively unfolded protein, is closely related to Parkinson's disease (PD) pathology. To provide an overview on the different roles of this protein, here we propose a synopsis of seminal...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00295
更新日期:2018-05-04 00:00:00
abstract::Intensive glycemic control has not shown consistent findings in stroke prevention for diabetes patients, particularly for those with microvascular complications. This case-control study evaluates the risks of stroke in Asian diabetic population with microvascular complications. From the insurance claims of Taiwan, we ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00719
更新日期:2018-08-29 00:00:00
abstract::[This corrects the article DOI: 10.3389/fneur.2018.01033.]. ...
journal_title:Frontiers in neurology
pub_type: 已发布勘误
doi:10.3389/fneur.2020.00863
更新日期:2020-09-17 00:00:00
abstract::In Parkinson's disease (PD), internal cueing mechanisms are impaired leading to symptoms like hypokinesia. However, external cues can improve movement execution by using cortical resources. These cortical processes can be affected by cognitive decline in dementia. It is still unclear how dementia in PD influences exte...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00236
更新日期:2014-11-17 00:00:00
abstract::Purpose: To assess the efficacy and safety of rituximab treatment as second-line immunotherapy in pediatric cases of anti-NMDA receptor (NMDAR) encephalitis. Methods: We retrospectively recruited 8 patients with anti-NMDAR encephalitis who were treated with rituximab as second-line immunotherapy. We evaluated the clin...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.606923
更新日期:2020-12-14 00:00:00
abstract:BACKGROUND AND PURPOSE:Although the presence of cavitating lacunes on brain imaging may have prognostic implications, the modifiable risk factors underlying these frequently observed lesions are not completely understood. We sought to determine if fasting and post-challenge triglycerides associate with cavitating lacun...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00092
更新日期:2013-07-10 00:00:00