Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke.

Background: (1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. (2) Sequence analysis of the COL4A1 miRNA-binding site containing the causative variant in two independent cross-sectional samples of sporadic stroke patients.

Patients And Methods: Sanger sequencing of the COL4A1 miRNA-binding site in the PADMAL family and 874 sporadic stroke patients.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.

A recurrent de novo missense variant in KCNC1, encoding a voltage-gated potassium channel expressed in inhibitory neurons, causes progressive myoclonus epilepsy and ataxia, and a nonsense variant is associated with intellectual disability. We identified three new de novo missense variants in KCNC1 in five unrelated individuals causing different phenotypes featuring either isolated nonprogressive myoclonus (p.Cys208Tyr), intellectual disability (p.

Dolichoectasia and Small Vessel Disease in Young Patients With Transient Ischemic Attack and Stroke.

Background And Purpose: We evaluated whether basilar dolichoectasia is associated with markers of cerebral small vessel disease in younger transient ischemic attack and ischemic stroke patients.

Methods: We used data from the SIFAP1 study (Stroke in Young Fabry Patients), a large prospective, hospital-based, screening study for Fabry disease in young (<55 years) transient ischemic attack/stroke patients in whom detailed clinical data and brain MRI were obtained, and stroke subtyping with TOAST classification (Trial of ORG 10172 in Acute Stroke Treatment) was performed.

Results: Dolichoectasia was found in 508 of 3850 (13.

Family History in Young Patients With Stroke.

Background And Purpose: Family history of stroke is an established risk factor for stroke. We evaluated whether family history of stroke predisposed to certain stroke subtypes and whether it differed by sex in young patients with stroke.

Methods: We used data from the Stroke in Fabry Patients study, a large prospective, hospital-based, screening study for Fabry disease in young patients (aged <55 years) with stroke in whom cardiovascular risk factors and family history of stroke were obtained and detailed stroke subtyping was performed.

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year). Minor cervical traumas, infection, migraine and hypertension are putative risk factors, and inverse associations with obesity and hypercholesterolemia are described.

Characteristics of Susac syndrome: a review of all reported cases.

In Susac syndrome, occlusions of microvessels--presumed to be mediated by an autoimmune response to an as yet unknown antigen--lead to a characteristic clinical triad of CNS dysfunction, branch retinal artery occlusions, and sensorineural hearing impairment. Susac syndrome is considered a rare but important differential diagnosis in numerous neurological, psychiatric, ophthalmological, and ear, nose and throat disorders. Improved understanding of this disorder is crucial, therefore, to ensure that patients receive appropriate treatment and care.

Prevalence of unknown atrial fibrillation in patients with risk factors.

Aims: Atrial fibrillation (AF) is the most common cardiac arrhythmia. 'Silent', undiagnosed AF is often only detected with the first complication, e.g.

Serum from interferon-β-1b-treated patients with early multiple sclerosis stabilizes the blood-brain barrier in vitro.

Interferon-β (IFN-β) stabilizes the blood-brain barrier (BBB) in vitro. Here we investigated the effect of serum from 15 IFN-β-1b-treated multiple sclerosis (MS) patients on the permeability read-outs of small solutes in an in vitro BBB model consisting of human brain microvascular endothelial cells in co-culture with rat astrocytes. The addition of sera from IFN-β-treated patients resulted in a significantly (p < 0.

Intravenous lacosamide--an effective add-on treatment of refractory status epilepticus.

Status epilepticus (SE) is a frequent neurological emergency requiring immediate treatment. Therapy usually requires intravenous anticonvulsive medication. Lacosamide is a novel anticonvulsant drug that is available as infusion solution.

Arterial elongation ("redundancy") is not a feature of spontaneous cervical artery dissection.

The prevalence of elongation of the internal carotid arteries (ICA) is suggested to be significantly higher in patients with spontaneous cervical artery dissection (sCAD) than in other stroke patients. We reassessed this hypothesis in a case-control study by means of an improved semiautomated MR imaging technique. We compared the length of the cervical arteries in patients with and without sCAD.

Endoscopic characteristics and levodopa responsiveness of swallowing function in progressive supranuclear palsy.

Dysphagia is a frequent and early symptom in progressive supranuclear palsy (PSP) predisposing patients to aspiration pneumonia. Fiberoptic endoscopic evaluation of swallowing (FEES) has emerged as a valuable apparative tool for objective evaluation of neurogenic dysphagia. This is the first study using FEES to investigate the nature of swallowing impairment in PSP.

Methodological quality of preclinical stroke studies is not required for publication in high-impact journals.

Omitting quality characteristics in animal stroke studies leads to an overestimation of the efficacy of candidate stroke drugs. Nevertheless, the methodological quality of preclinical stroke studies is often limited. As publishing of research results in high-impact journals is an important motivation for scientists, we analyzed whether study quality predicts high-impact publishing.

The impact of lesion location and lesion size on poststroke infection frequency.

Objectives: Infections in patients with stroke are common and significantly affect outcome. Various predictors of poststroke infections were determined, such as degree of neurological impairment and implementation of therapeutic interventions. The authors investigated whether stroke location and stroke size are independent risk factors for poststroke infections.

How much does hypertension affect cognition?: explained variance in cross-sectional analysis of non-demented community-dwelling individuals in the SEARCH study.

Vascular pathology impairs cognition and impaired cognition increases the risk of dementia. Hypertension is arguably the vascular risk factor that can be reverted best. Here we estimated the effect magnitude of hypertension by determining the variance in cognition explained by systolic blood pressure (sBP) in non-demented community-dwelling individuals.

Decreased cortical somatosensory finger representation in X-linked recessive bulbospinal neuronopathy (Kennedy disease): a magnetoencephalographic study.

Background: Kennedy disease (KD) clinically presents as progressive lower motor neuron disease with minimal or no sensory impairment. However, electrophysiological studies found abnormal somatosensory-evoked potentials even in absence of clinical deficits. Little is known about possible influences of this sensory neuropathy on the central somatosensory processing.

Cortical compensation associated with dysphagia caused by selective degeneration of bulbar motor neurons.

According to recent neuroimaging studies, swallowing is processed within multiple regions of the human brain. In contrast to this, little is known about the cortical contribution and compensatory mechanisms produced by impaired swallowing. In the present study, we therefore investigated the cortical topography of volitional swallowing in patients with X-linked bulbospinal neuronopathy (Kennedy disease, KD).

Further evidence for a crucial role of resident endoneurial macrophages in peripheral nerve disorders: lessons from acrylamide-induced neuropathy.

Endoneurial macrophages are crucially involved in the pathogenesis of neuropathies. Historically, the macrophage response in neuropathies is believed to be of hematogenous origin. However, recent studies could demonstrate an intrinsic generation of the early macrophage response by resident endoneurial macrophages after traumatic nerve injury and in a model of hereditary neuropathy.

Early recovery and functional outcome are related with causal stroke subtype: data from the tinzaparin in acute ischemic stroke trial.

Introduction: Baseline severity and causal subtype are predictors of outcome in ischemic stroke. We used data from the Tinzaparin in Acute Ischemic Stroke Trial (TAIST) to further assess the relationship among stroke subtype, early recovery, and outcome.

Methods: Patients with ischemic stroke (<48 hours ictus) and enrolled into TAIST were included.

Stroke severity, early recovery and outcome are each related with clinical classification of stroke: data from the 'Tinzaparin in Acute Ischaemic Stroke Trial' (TAIST).

Introduction: Baseline severity and clinical stroke syndrome (Oxford Community Stroke Project, OCSP) classification are predictors of outcome in stroke. We used data from the 'Tinzaparin in Acute Ischaemic Stroke Trial' (TAIST) to assess the relationship between stroke severity, early recovery, outcome and OCSP syndrome.

Methods: TAIST was a randomised controlled trial assessing the safety and efficacy of tinzaparin versus aspirin in 1484 patients with acute ischaemic stroke.

Development and implementation of evidence-based indicators for measuring quality of acute stroke care: the Quality Indicator Board of the German Stroke Registers Study Group (ADSR).

Background And Purpose: There is no consensus about indicators for measuring quality of acute stroke care in Germany. Therefore, a standardized process was initiated recently to develop and implement evidence-based indicators for the measurement of quality of acute hospital stroke care.

Methods: Quality indicators were developed by a multidisciplinary board between November 2003 and December 2005.

Changing cortical excitability with low-frequency transcranial magnetic stimulation can induce sustained disruption of tactile perception.

Transcranial magnetic stimulation (TMS) is promising as a therapeutic tool, and TMS of the motor system has served as a model for regionally specific modulations of cortical excitability. It is unclear, however, to what extent response characteristics of the motor cortex are representative of other brain systems. We wanted to determine whether TMS could induce a sustained disruption of somatosensory processing beyond the stimulation duration, similar to observations in the motor system.