Abstract:
:Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities. ADPKD is caused by mutations in either PKD1 or PKD2 genes that encode for integral membrane proteins Polycystin-1 (PC1) and Polycystin-2 (PC2), respectively. Extrarenal involvement includes noncystic manifestations such as dilatation of the aortic root, artery dissection and intracranial aneurysms. Cerebral cavernous malformation (CCM) is a rare vascular malformation disorder characterized by closely clustered and irregularly dilated capillaries that can be asymptomatic or cause variable neurological manifestations, such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and cerebral hemorrhages. Familial CCM is typically associated with mutations in KRIT1 (CCM1), CCM2, and PDCD10 (CCM3). The co-occurrence of ADPKD and CCM has been previously described in a single patient, although genetic analysis was not performed in this study. We report here a family with ADPKD associated with CCM in two sisters. Direct sequencing of the index patient revealed a single novel heterozygous frameshift mutation in PKD1, and lack of mutations in genes usually related to CCM. This suggests that CCM represents an additional phenotype of ADPKD.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Thomas C,Zühlsdorf A,Hörtnagel K,Mulahasanovic L,Grauer OM,Kümpers P,Wiendl H,Meuth SGdoi
10.3389/fneur.2018.00383subject
Has Abstractpub_date
2018-05-25 00:00:00pages
383issn
1664-2295journal_volume
9pub_type
abstract::Psychophysiological investigations of traumatic brain injury (TBI) are being conducted for several reasons, including the objective of learning more about the underlying physiological mechanisms of the pathological processes that can be initiated by a head injury. Additional goals include the development of objective ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2013.00091
更新日期:2013-07-22 00:00:00
abstract::The aim of the present study was to evaluate the correlation between the end of an Oxford sleep resistance (OSLER) test session and a neurophysiological marker of sleep onset in Parkinson's disease (PD) patients. Single center study was conducted in PD patients with excessive daytime sleepiness [Epworth sleepiness sca...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00200
更新日期:2015-09-24 00:00:00
abstract::There is currently no therapeutic drug treatment for traumatic brain injury (TBI) despite decades of experimental clinical trials. This may be because the mechanistic pathways for improving TBI outcomes have yet to be identified and exploited. As such, there remains a need to seek out new molecular targets and their d...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00178
更新日期:2015-09-02 00:00:00
abstract::Multiple sclerosis (MS) pathology progressively affects multiple central nervous system (CNS) areas. Due to this fact, MS produces a wide array of symptoms. Symptomatic therapy of one MS symptom can cause or worsen other unwanted symptoms (anticholinergics used for bladder dysfunction produce impairment of cognition, ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00152
更新日期:2020-03-17 00:00:00
abstract:BACKGROUND:Parasympathetic innervation of meninges and ability of carbachol, acetylcholine (ACh) receptor (AChR) agonist, to induce headaches suggests contribution of cholinergic mechanisms to primary headaches. However, neurochemical mechanisms of cholinergic regulation of peripheral nociception in meninges, origin pl...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00163
更新日期:2017-04-27 00:00:00
abstract::Ictal fear-a relatively rare phenomenon-is a semiological characteristic of epilepsy. Most patients with epilepsy with ictal fear have an epileptic zone in the mesial temporal lobe, which is the classical brain area involved in emotion processing. Herein, we report a case of epilepsy with ictal fear as the first manif...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.00644
更新日期:2018-08-07 00:00:00
abstract::Objective: To report a rare case of brainstem encephalitis with low-titer acetylcholine receptor antibodies mimicking myasthenia gravis. Methods: The patient was investigated with repeated brain MRI, CSF examination, repetitive nerve stimulation, thoracic CT, and serologic screening. Our patient passed away and finall...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00829
更新日期:2019-08-02 00:00:00
abstract::A decrease in glutamate in the medial prefrontal cortex (mPFC) has been extensively found in animal models of chronic pain. Given that the mPFC is implicated in emotional appraisal, cognition and extinction of fear, could a potential decrease in glutamate be associated with increased pessimistic thinking, fear and wor...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01110
更新日期:2019-12-03 00:00:00
abstract::Cerebral ischemia is the leading cause of morbidity and mortality following aneurysmal subarachnoid hemorrhage (SAH). Although 70% of the patients show angiographic vasospasm only 30% develop symptomatic vasospasm defined as delayed cerebral ischemia (DCI). Early detection and management of reversible ischemia is of c...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00089
更新日期:2014-06-02 00:00:00
abstract:OBJECTIVE:Effective stroke care does not end with acute treatment during hospitalization, but extends through rehabilitation and secondary stroke prevention. In transitions across care environments, stroke patients are vulnerable to errors in communication of diagnosis and treatment. This study aimed to demonstrate tha...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2015.00227
更新日期:2015-10-27 00:00:00
abstract::Most clinical diagnoses of stroke are based on the persistence of symptoms relating to consciousness, language, visual-field loss, extraocular movement, neglect (visual), motor strength, and sensory loss following acute cerebral infarction. Yet despite the fact that most motor actions and cognition are driven by visio...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.00705
更新日期:2020-07-17 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
pub_type: 杂志文章
doi:10.3389/fneur.2020.542511
更新日期:2020-09-29 00:00:00
abstract::Ischemic stroke is one of the leading causes for death and disability worldwide. In patients with large space-occupying infarction, the subsequent edema complicated by transtentorial herniation poses a lethal threat. Especially in patients with malignant middle cerebral artery infarction, brain swelling secondary to t...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.01119
更新日期:2019-01-09 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
pub_type: 杂志文章
doi:10.3389/fneur.2017.00495
更新日期:2017-09-26 00:00:00
abstract::Benign paroxysmal positional vertigo (BPPV) is the most common peripheral vestibular end-organ disease, and it is one of the first causes of access to the emergency room. The moment of migration of the otoconial debris in a semicircular canal does not necessarily coincide with the moment of detachment of the debris th...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.572531
更新日期:2020-10-23 00:00:00
abstract::Introduction: The headache phase of migraine could in selected cases potentially be treated by surgical decompression of one or more "trigger sites," located at frontal, temporal, nasal, and occipital sites. This systematic review with subsequent meta-analysis aims at critically evaluating the currently available evid...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00089
更新日期:2019-02-14 00:00:00
abstract::Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT) is the minimum interval at which paired sequential stimuli are perceived as being asynchronous; this can be assessed, with high test-retest and ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00625
更新日期:2017-11-28 00:00:00
abstract::Background: Chronic progressive neurological diseases like high grade glioma (HGG), Parkinson's disease (PD), and multiple sclerosis (MS) are incurable, and associated with increasing disability including cognitive impairment, and reduced life expectancy. Patients with these diseases have complex care needs. Therefore...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01157
更新日期:2019-01-14 00:00:00
abstract::The persistent primitive hypoglossal artery (PPHA) is the second most common persistent carotid-vertebrobasilar anastomosis, with an incidence of 0.027-0.26%. PPHAs change the hemodynamics of the carotid and vertebrobasilar system and may be associated with intracranial vascular anomalies, but basilar bifurcation aneu...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2017.00168
更新日期:2017-04-26 00:00:00
abstract:OBJECTIVE:To perform two scoping systematic reviews of the literature on cytokine measurement in: 1. cerebral microdialysis (CMD) and 2. cerebrospinal fluid (CSF) in severe traumatic brain injury (TBI) patients. METHODS:Two separate systematic reviews were conducted: one for CMD cytokines and the second for CSF cytoki...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00331
更新日期:2017-07-10 00:00:00
abstract::Background and Purpose: This study aimed to investigate the efficacy of cerebrospinal fluid shunt intervention for idiopathic normal pressure hydrocephalus (iNPH) using data from a nationwide epidemiological survey in Japan. Methods: We conducted a cross-sectional study using data from a nationwide epidemiological sur...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00421
更新日期:2018-06-07 00:00:00
abstract:BACKGROUND AND PURPOSE:The pathogenesis of spontaneous cervical artery dissections (sCAD) and its best medical treatment are debated. This may be due to a lack of clear classification of sCAD. We propose the new Borgess classification of sCAD, based on the presence or absence of intimal tear as depicted on imaging stud...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2013.00133
更新日期:2013-09-17 00:00:00
abstract::Objective: The peak-to-peak amplitude of the p13-n23 wave in cervical vestibular evoked myogenic potential can increase after furosemide administration in patients with Meniere's disease [furosemide-loading VEMP (FVEMP) testing]. The examination is used to test for the presence of endolymphatic hydrops; we investigate...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00636
更新日期:2018-08-03 00:00:00
abstract::Manual dexterity measures can be useful for early detection of age-related functional decline and for prediction of cognitive decline. However, what aspects of sensorimotor function to assess remains unclear. Manual dexterity markers should be able to separate impairments related to cognitive decline from those relate...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00910
更新日期:2018-10-29 00:00:00
abstract::Traumatic brain injury (TBI) is a major health concern worldwide. Laboratory studies utilizing animal models of TBI are essential for addressing pathological mechanisms of brain injury and development of innovative treatments. Over the past 75 years, pioneering head injury researchers have devised and tested a number ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2016.00217
更新日期:2016-12-02 00:00:00
abstract:BACKGROUND AND PURPOSE:The aim of this study was to systematically review the efficacy and tolerability of gabapentin in the treatment of sleep disturbance in patients with medical illness. METHODS:PubMed was searched for randomized, double-blinded, placebo-controlled trials that reported sleep changes during gabapent...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00316
更新日期:2017-07-14 00:00:00
abstract::Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) are common causes of dementia worldwide. Although considered separate entities based on the relative temporal onset of motor symptoms vs. diagnosis of dementia, it is unknown if these diseases truly have distinct cognitive profiles. We hypothesized...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00123
更新日期:2018-03-12 00:00:00
abstract::Repetitive transcranial magnetic stimulation (rTMS) is a non-invasive therapy that has been implicated in treatment of serious neurological disorders. However, the neurobiological mechanisms underlying the effects of rTMS remain unclear. Therefore, this study examined the differential effects of repetitive magnetic st...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00050
更新日期:2018-02-13 00:00:00
abstract::This study was undertaken to demonstrate the vascular protection of exogenous and endogenous hydrogen sulfide (H2S) on cerebral ischemia/reperfusion (I/R) injury. The effect of H2S on cerebrovascular dysfunction in middle cerebral artery (MCA) and neuronal damage were measured after cerebral I/R induced by transient m...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00779
更新日期:2018-10-19 00:00:00
abstract::Increasing evidence suggests an association between gastrointestinal (GI) disorders and susceptibility and progress of Parkinson's disease (PD). Gut-brain axis has been proposed to play important roles in the pathogenesis of PD, though the exact pathophysiologic mechanism has yet to be elucidated. Here, we discuss the...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.00849
更新日期:2020-08-25 00:00:00