Gene-Related Cerebellar Neurodegeneration in SCA3/MJD: A Case-Controlled Imaging-Genetic Study.

abstract：:Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in DMD. A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental research. Here, we aimed to build the largest Chinese national dystrop...

journal_title：Frontiers in neurology

authors： Tong YR,Geng C,Guan YZ,Zhao YH,Ren HT,Yao FX,Ling C,Wang DC,Chen L,Cui LY,Zhang SY,Dai Y

更新日期：2020-09-30 00:00:00

abstract：:The vestibular system plays a crucial role in the multisensory control of balance. When vestibular function is lost, essential tasks such as postural control, gaze stabilization, and spatial orientation are limited and the quality of life of patients is significantly impaired. Currently, there is no effective treatmen...

journal_title：Frontiers in neurology

authors： Perez Fornos A,Guinand N,van de Berg R,Stokroos R,Micera S,Kingma H,Pelizzone M,Guyot JP

更新日期：2014-04-29 00:00:00

abstract：:Given the increasing use of regenerative free muscle flaps for various reconstructive procedures and neuroprosthetic applications, there is great interest and value in their enhanced regeneration, revascularization, and reinnervation for improved functional recovery. Here, we implant polyimide-based mircroelectrodes o...

journal_title：Frontiers in neurology

authors： Srinivasan S,Vyas K,McAvoy M,Calvaresi P,Khan OF,Langer R,Anderson DG,Herr H

更新日期：2019-03-22 00:00:00

abstract：:Neurosyphilis, which is caused by Treponema pallidum, is a rare sexually transmitted disease involving the central nervous system (CNS). Among all the sub-categories, spinal syphilitic gumma is extremely rare. In previous literature, limited cases of spinal syphilitic gumma have been reported, most of which underwent ...

journal_title：Frontiers in neurology

authors： Cui L,Xu Z,Hou H

更新日期：2020-01-15 00:00:00

abstract：:Autoimmune encephalitis often causes acute psychiatric symptoms and epileptic seizures. However, it is becoming increasingly clear that depending on the target antigen both symptoms and disease severity may vary. Furthermore, the identification and characterization of antibody subtypes are highly relevant for personal...

journal_title：Frontiers in neurology

authors： Edwin Thanarajah S,Prüss H,Warnke C,Barbe MT,Schroeter M,Fink GR,Onur OA

更新日期：2019-03-05 00:00:00

abstract：:Magnetic resonance imaging (MRI) is a non-destructive technique that is capable of localizing pathologies and assessing other anatomical features (e.g., tissue volume, microstructure, and white matter connectivity) in postmortem, ex vivo human brains. However, when brains are removed from the skull and cerebrospinal f...

journal_title：Frontiers in neurology

authors： Shatil AS,Matsuda KM,Figley CR

更新日期：2016-11-29 00:00:00

abstract：:Despite recent advances in our understanding of consciousness disorders, accurate diagnosis of severely brain-damaged patients is still a major clinical challenge. We here present the case of a patient who was considered in an unresponsive wakefulness syndrome/vegetative state for 20 years. Repeated standardized behav...

journal_title：Frontiers in neurology

authors： Vanhaudenhuyse A,Charland-Verville V,Thibaut A,Chatelle C,Tshibanda JL,Maudoux A,Faymonville ME,Laureys S,Gosseries O

更新日期：2018-08-28 00:00:00

abstract：:Traumatic brain injury (TBI) is a major medical crisis without any FDA-approved pharmacological therapies that have been demonstrated to improve functional outcomes. It has been argued that discovery of disease-relevant biomarkers might help to guide successful clinical trials for TBI. Major advances in mass spectrome...

journal_title：Frontiers in neurology

authors： Guingab-Cagmat JD,Cagmat EB,Hayes RL,Anagli J

更新日期：2013-05-31 00:00:00

abstract：:Background and objective: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited systemic arteriopathy, the classic feature of which is small vessel lesions. Studies on intracranial large arteries in CADASIL are not common. We aim to evaluate intracranial l...

journal_title：Frontiers in neurology

authors： Zhang C,Li W,Li S,Niu S,Wang X,Yu X,Zhang Z

更新日期：2020-08-18 00:00:00

abstract：:Exposure of the brain to brief, non-harmful seizures can activate protective mechanisms that temporarily generate a damage-refractory state. This process, termed epileptic tolerance, is associated with large-scale down-regulation of gene expression. Polycomb group (PcG) proteins are master controllers of gene silencin...

journal_title：Frontiers in neurology

authors： Reynolds JP,Miller-Delaney SF,Jimenez-Mateos EM,Sano T,McKiernan RC,Simon RP,Henshall DC

更新日期：2015-03-10 00:00:00

abstract：:Botulinum NeuroToxin-A (BoNT-A) injections to the medial gastrocnemius (MG) and lower-leg casts are commonly combined to treat ankle equinus in children with spastic cerebral palsy (CP). However, the decomposed treatment effects on muscle or tendon structure, stretch reflexes, and joint are unknown. In this study, BoN...

journal_title：Frontiers in neurology

authors： Peeters N,Van Campenhout A,Hanssen B,Cenni F,Schless SH,Van den Broeck C,Desloovere K,Bar-On L

更新日期：2020-04-21 00:00:00

abstract：BACKGROUND:Before implementation in clinical practice, biomarker assays need to be thoroughly analytically validated. There is currently a strong interest in implementation of the ratio of amyloid-β peptide 1-42 and 1-40 (Aβ42/Aβ40) in clinical routine. Therefore, in this study, we compared the analytical performance o...

journal_title：Frontiers in neurology

authors： van Waalwijk van Doorn LJC,Kulic L,Koel-Simmelink MJA,Kuiperij HB,Versleijen AAM,Struyfs H,Twaalfhoven HAM,Fourier A,Engelborghs S,Perret-Liaudet A,Lehmann S,Verbeek MM,Vanmechelen EJM,Teunissen CE

更新日期：2017-07-03 00:00:00

abstract：:Introduction: The purpose of this study was to verify whether the prevalence of intracranial aneurysm (IA) in patients with acoustic neuroma is greater than that in age- and sex-matched controls and to evaluate the independent risk factors related to the occurrence of IA. Methods: We retrospectively analyzed 231 patie...

journal_title：Frontiers in neurology

authors： You H,Bai Y,Yu T,Zeng T,Huang N,Mei W,Jiang C,Kang D,Wu X,Chen F

更新日期：2020-11-02 00:00:00

abstract：Introduction:The current standard treatment for patients with Duchenne muscular dystrophy (DMD) involves corticosteroids. Granulocyte colony-stimulating factor (G-CSF) induces the proliferation of satellite cells and myoblasts and, in turn, muscle regeneration. Beneficial effects of G-CSF were also described for skelet...

journal_title：Frontiers in neurology

authors： Sienkiewicz D,Kułak W,Okurowska-Zawada B,Paszko-Patej G,Wojtkowski J,Sochoń K,Kalinowska A,Okulczyk K,Sienkiewicz J,McEachern E

更新日期：2017-10-26 00:00:00

abstract：:Background: In early multiple sclerosis (MS), thalamus atrophy and decreased integrity of the thalamocortical white matter (WM) tracts have been observed. Objective: To investigate the temporal association between thalamus volume and WM damage in the thalamocortical tract in subjects with early MS. Methods: At two tim...

journal_title：Frontiers in neurology

authors： Weeda MM,Pruis IJ,Westerveld ASR,Brouwer I,Bellenberg B,Barkhof F,Vrenken H,Lukas C,Schneider R,Pouwels PJW

更新日期：2020-11-17 00:00:00

abstract：:Eye trauma and blindness are common in the United States, with an incidence of over 2 million cases/year and 25 million blind adults, respectively. However, literature is surprisingly scarce on the potential confounding effect of eye trauma or blindness on the diagnosis of myasthenia gravis (MG), an autoimmune neuromu...

journal_title：Frontiers in neurology

authors： Leis AA,Moore AR

更新日期：2014-07-01 00:00:00

abstract：:Growing evidence shows the bidirectional interactions between sleep, circadian rhythm, and epilepsy. Comprehending how these interact with each other may help to advance our understanding of the pathophysiology of epilepsy and develop new treatment strategies to improve seizure control by reducing the medication side ...

journal_title：Frontiers in neurology

authors： Jin B,Aung T,Geng Y,Wang S

更新日期：2020-05-08 00:00:00

abstract：:Background and aims: The pathophysiology of hippocampal enlarged perivascular spaces (H-EPVS) and its relationship to cognitive impairment is largely unknown. This study aimed to investigate the relationship between H-EPVS and cognition in non-dementic elderly population. Methods: A total of 109 subjects were prospect...

journal_title：Frontiers in neurology

authors： Sim JE,Park MS,Shin HY,Jang HS,Won HH,Seo SW,Seo WK,Kim BJ,Kim GM

更新日期：2020-09-29 00:00:00

abstract：:Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease characterized by multi-system involvement. Affected organ system includes skeletal muscle, heart, gastro-intestinal system and the brain. In this review, we evaluate the evidence for alterations in insulin signaling and their relation to clinical...

journal_title：Frontiers in neurology

authors： Nieuwenhuis S,Okkersen K,Widomska J,Blom P,'t Hoen PAC,van Engelen B,Glennon JC

更新日期：2019-11-26 00:00:00

abstract：:This study reports the case of an acoustic shock injury (ASI), which did not result in a significant hearing loss, but was followed by manifold chronic symptoms both within (tinnitus, otalgia, tingling in the ear, tension in the ear, and red tympanum) and outside the ears (blocked nose, pain in the neck/temporal regio...

journal_title：Frontiers in neurology

authors： Londero A,Charpentier N,Ponsot D,Fournier P,Pezard L,Noreña AJ

更新日期：2017-08-16 00:00:00

abstract：:Gait disturbances are one of the principal and most incapacitating symptoms of Parkinson's disease (PD). In addition, walking economy is impaired in PD patients and could contribute to excess fatigue in this population. An important number of studies have shown that treadmill training can improve kinematic parameters ...

journal_title：Frontiers in neurology

authors： Fernández-Del-Olmo MA,Sanchez JA,Bello O,Lopez-Alonso V,Márquez G,Morenilla L,Castro X,Giraldez M,Santos-García D

更新日期：2014-09-26 00:00:00

abstract：INTRODUCTION:In tinnitus treatment, there is a tendency to shift from a "one size fits all" to a more individual, patient-tailored approach. Insight in the heterogeneity of the tinnitus spectrum might improve the management of tinnitus patients in terms of choice of treatment and identification of patients with severe ...

journal_title：Frontiers in neurology

authors： van den Berge MJC,Free RH,Arnold R,de Kleine E,Hofman R,van Dijk JMC,van Dijk P

更新日期：2017-04-03 00:00:00

abstract：:Hand-Arm Bimanual Intensive Therapy (HABIT) promotes hand function using intensive practice of bimanual functional and play tasks. This intervention has shown to be efficacious to improve upper-extremity (UE) function in children with unilateral spastic cerebral palsy (USCP). In addition to UE function deficits, lower...

journal_title：Frontiers in neurology

authors： Saussez G,Brandão MB,Gordon AM,Bleyenheuft Y

更新日期：2017-09-26 00:00:00

abstract：:The sensorimotor transformations performed by central vestibular neurons constantly adapt as the animal faces conflicting sensory information or sustains injuries. To ensure the homeostasis of vestibular-related functions, neural changes could in part rely on the regulation of 2° VN intrinsic properties. Here we revie...

journal_title：Frontiers in neurology

authors： Beraneck M,Idoux E

更新日期：2012-02-28 00:00:00

abstract：BACKGROUND:Recent studies indicate excitatory GABA action in and around tubers in patients with tuberous sclerosis complex (TSC). This may contribute to recurrent seizures and behavioral problems that may be treated by agents that enhance GABAergic transmission by influencing chloride regulation. CASE PRESENTATION:Her...

journal_title：Frontiers in neurology

authors： Vlaskamp C,Poil SS,Jansen F,Linkenkaer-Hansen K,Durston S,Oranje B,Bruining H

更新日期：2017-09-08 00:00:00

abstract：:For epileptic patients requiring resective surgery, a modality called stereo-electroencephalography (SEEG) may be used to monitor the patient's brain signals to help identify epileptogenic regions that generate and propagate seizures. SEEG involves the insertion of multiple depth electrodes into the patient's brain, e...

journal_title：Frontiers in neurology

authors： Greene P,Li A,González-Martínez J,Sarma SV

更新日期：2021-01-06 00:00:00

abstract：:Mutations in the Potassium channel subfamily T member 1 (KCNT1) gene have been reported in a range of epileptic encephalopathies. Here we report the case of a 12-year-old male suffering from multiple types of epileptic seizures and cognitive decline from the age of 10. The patient had four types of epileptic seizures,...

journal_title：Frontiers in neurology

authors： Jia Y,Lin Y,Li J,Li M,Zhang Y,Hou Y,Liu A,Zhang L,Li L,Xiang P,Ye J,Huang Z,Wang Y

更新日期：2019-02-05 00:00:00

abstract：:Epidemiological associations linking between obstructive sleep apnea and poorer solid malignant tumor outcomes have recently emerged. Putative pathways proposed to explain that these associations have included enhanced hypoxia inducible factor (HIF)-1α and vascular endothelial growth factor (VEGF) cell expression in t...

journal_title：Frontiers in neurology

authors： Almendros I,Martínez-García MÁ,Campos-Rodríguez F,Riveiro-Falkenbach E,Rodríguez-Peralto JL,Nagore E,Martorell-Calatayud A,Hernández Blasco L,Bañuls Roca J,Chiner Vives E,Sánchez-de-la-Torre A,Abad-Capa J,Montserrat JM,Pérez-Gi

更新日期：2018-04-26 00:00:00

abstract：:We sought to investigate (1) the characteristics of epileptiform discharge (ED) duration and interdischarge interval (IDI) and (2) the influence of vigilance state on the ED duration and IDI in genetic generalized epilepsy (GGE). In a cohort of patients diagnosed with GGE, 24-h ambulatory EEG recordings were performed...

journal_title：Frontiers in neurology

authors： Seneviratne U,Boston RC,Cook MJ,D'Souza WJ

更新日期：2018-02-19 00:00:00

abstract：Background:Cerebral microcirculation after severe head injury is heterogeneous and temporally variable. Microcirculation is dependent upon the severity of injury, and it is unclear how histology relates to cerebral regional blood flow. Objective:This study assesses the changes of cerebral microcirculation blood flow o...

journal_title：Frontiers in neurology

authors： Bellapart J,Cuthbertson K,Dunster K,Diab S,Platts DG,Raffel OC,Gabrielian L,Barnett A,Paratz J,Boots R,Fraser JF

更新日期：2018-05-07 00:00:00