Contactin-associated protein 2 autoantibodies can be associated with multifocal motor-like neuropathy: a case report.

Autoantibodies against contactin-associated protein 2 (CASPR2) are usually associated with autoimmune encephalitis and neuromyotonia. Their association with inflammatory neuropathies has been described in case reports albeit all with distal symmetric manifestation. Here, we report a patient who developed distal arm paresis, dominantly of the right arm, over the course of 1 year.

[de novo hATTR amyloidosis after domino transplantation of a donor's liver: a case report for the use of Patisiran].

Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, rapidly progressing, and potentially life-threatening disease caused by one of more than 120 mutations in the transthyretin (TTR) gene. As a result of the cumulative amyloid deposits, especially in the peripheral nerves and the heart, the majority of patients develop progressive, peripheral sensorimotor polyneuropathy and biventricular cardiomyopathy over time.Since TTR - and its amyloidogenic variants too - is predominantly synthesized in the liver, early, orthotopic liver transplantation (LTx) is a treatment option that can be used to potentially stop the progression of hATTR amyloidosis.

[Gene therapy options for hereditary transthyretin-related amyloidosis].

Hereditary transthyretin-related amyloidosis (ATTRv) is a rare autosomal dominant disease and is fatal if left untreated. It is caused by mutations in the transthyretin gene. All known mutations induce misfolding of the tetrameric transthyretin molecule and protein deposits in multiple organs.

Genome silencer therapy leading to 'regression' of cardiac amyloid load on cardiovascular magnetic resonance: a case report.

Background: Hereditary or variant transthyretin amyloidosis (ATTRv) is a progressive disease manifesting with neuropathy and/or cardiomyopathy. An early and accurate diagnosis of cardiac amyloidosis is a pre-requisite for timely and appropriate patient management, including anti-amyloid therapies, as it is associated with heart failure, conduction disease, and arrhythmias, leading to reduced quality of life and early death.

Case Summary: We present the case of an ATTRv male patient presenting with a mixed amyloidosis phenotype (neuropathy and cardiomyopathy).

Detecting myasthenia gravis as a cause of unclear dysphagia with an endoscopic tensilon test.

Aims: The flexible endoscopic evaluation of swallowing-tensilon test (FTT) was developed to diagnose myasthenia gravis (MG) in patients with unclear pharyngeal dysphagia. The purpose of this study was to determine sensitivity and specificity of the FTT and compare its diagnostic validity with that of other diagnostic markers.

Methods: In this single-centre pragmatic clinical cohort study, a total of 100 patients with unclear pharyngeal dysphagia were eligible to undergo FTT.

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.

Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR) in the TTR gene. Alongside cardiac dysfunction, the disease typically manifests with a severely progressive sensorimotor and autonomic polyneuropathy. Three different drugs, tafamidis, patisiran, and inotersen, are approved in several countries, including the European Union and the United States of America.

Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.

Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, fatal, multisystem disease leading to deteriorating quality of life (QOL). The impact of patisiran on QOL in patients with hATTR amyloidosis with polyneuropathy from the phase 3 APOLLO study (NCT01960348) is evaluated. Patients received either patisiran 0.

Comparing Plasma Exchange to Escalated Methyl Prednisolone in Refractory Multiple Sclerosis Relapses.

Intravenous methyl prednisolone (IVMPS) represents the standard of care for multiple sclerosis (MS) relapses, but fail to improve symptoms in one quarter of patients. In this regard, apart from extending steroid treatment to a higher dose, therapeutic plasma exchange (TPE) has been recognized as a treatment option. The aim of this retrospective, monocentric study was to investigate the efficacy of TPE versus escalated dosages of IVMPS in refractory MS relapses.

[Transthyretin Familial Amyloid Polyneuropathy - Disease Profile of a Multisystem Disorder].

Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated.

Combining Growth Factor and Bone Marrow Cell Therapy Induces Bleeding and Alters Immune Response After Stroke in Mice.

Background And Purpose: Bone marrow cell (BMC)-based therapies, either the transplantation of exogenous cells or stimulation of endogenous cells by growth factors like the granulocyte colony-stimulating factor (G-CSF), are considered a promising means of treating stroke. In contrast to large preclinical evidence, however, a recent clinical stroke trial on G-CSF was neutral. We, therefore, aimed to investigate possible synergistic effects of co-administration of G-CSF and BMCs after experimental stroke in mice to enhance the efficacy compared with single treatments.

Case report of bilateral relapsing-remitting sciatic nerve palsy during two pregnancies.

Background: Unlike puerperal peripheral nerve lesions, mononeuropathy during pregnancy is rarely encountered. We report a case of bilateral relapsing-remitting sciatic nerve palsy during two pregnancies. An extensive literature search in PubMed brought no similar cases.

Vitamin B status in patients with type 2 diabetes mellitus with and without incipient nephropathy.

Aim: To investigate the vitamin B status, with particular focus on vitamin B6, in adults with and without incipient nephropathy secondary to type 2 diabetes mellitus.

Methods: Plasma and/or urine concentrations of vitamins B₆, B₁, B₁₂, related vitamers and biomarkers (including total homocysteine, methylmalonic acid) were measured in 120 adults with type 2 diabetes (including 46 patients with microalbuminuria) and 52 non-diabetic control subjects.

Results: Plasma concentrations of pyridoxal 5'-phosphate (PLP) were significantly lower in patients with type 2 diabetes than in control subjects (median: 22.

Feasibility platform for stroke studies: an online tool to improve eligibility criteria for clinical trials.

Background And Purpose: Eligibility criteria are a key factor for the feasibility and validity of clinical trials. We aimed to develop an online tool to assess the potential effect of inclusion and exclusion criteria on the proportion of patients eligible for an acute stroke trial.

Methods: We identified relevant inclusion and exclusion criteria of acute stroke trials.

The temporo-spatial localization of polymorphonuclear cells related to the neurovascular unit after transient focal cerebral ischemia.

Inflammatory responses after cerebral ischemia are important for the development of final infarct size but the role of polymorphonuclear cells (PMN) is still a matter of debate, since previously used antibodies were recently declared as non-specific. In the present study, we investigated the temporo-spatial localization of PMN related to the neurovascular unit using specific antibodies, 7/4 and Ly6G, and application of G-CSF to induce proliferation and mobilization of PMN precursors after transient focal cerebral ischemia in mice. Infarct volumes, sensorimotor function, neurological outcome and immunohistochemical analysis of PMN were performed after G-CSF administration or placebo treatment.

Analysis of early phase and subsequent phase III stroke studies of neuroprotectants: outcomes and predictors for success.

Background: Efficacy of neuroprotective treatments for ischemic stroke was not convincingly demonstrated in clinical phase III trials so far, whereas some preceding early phase studies found neuroprotection to be beneficial. We aimed to determine the frequency with which phase III studies are preceded by positive early phase studies, and to identify characteristics of early phase studies that are associated with correct prediction of phase III studies.

Methods: We identified phase III studies and corresponding early phase studies of neuroprotective treatments for stroke.

Bone marrow-derived mononuclear cells do not exert acute neuroprotection after stroke in spontaneously hypertensive rats.

Bone marrow-derived mononuclear cells (BM-MNCs) were shown to improve the outcome in animal stroke models and clinical pilot studies on BM-MNCs for stroke patients were already conducted. However, relevant aspects of pre-clinical evaluation, such as the use of animals with comorbidities and dose-response studies, were not thoroughly addressed so far. We therefore investigated different BM-MNC doses in the clinical meaningful stroke model of spontaneously hypertensive (SH) rats.

Cortical photothrombotic infarcts impair the recall of previously acquired memories but spare the formation of new ones.

Background And Purpose: Despite a high incidence of poststroke dementia, there is no specific treatment for this condition. Because the evaluation of poststroke cognitive deficits in animal models of stroke is exceedingly challenging, the preclinical evaluation of candidate drugs is limited. We aimed to explore the impact of small cortical photothrombotic strokes on poststroke cognition, thereby assessing the suitability of this experimental stroke model for the investigation of cognitive impairment after stroke.

Susac syndrome treated with subcutaneous immunoglobulin.

Background: Susac syndrome is a rare disease characterized by the triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss mainly affecting young women. The finding of antibodies against the endothelium in the sera of these patients has supported the hypothesis of an autoimmune endotheliopathy of the brain, inner ear and retina. Because of the rarity of the disease, treatment is based on the knowledge of case reports and small case series.

Meta-analysis of the efficacy of different training strategies in animal models of ischemic stroke.

Background And Purpose: Although several studies have shown beneficial effects of training in animal stroke models, the most effective training strategy and the optimal time to initiate training have not been identified. The present meta-analysis was performed to compare the efficacy of different training strategies and to determine the optimal time window for training in animal stroke models.

Methods: We searched the literature for studies analyzing the efficacy of training in animal models of ischemic stroke.

Monocyte chemoattractant protein-1-deficiency results in altered blood-brain barrier breakdown after experimental stroke.

Background And Purpose: Stroke-induced blood-brain barrier (BBB)-disruption can contribute to further progression of cerebral damage. There is rising evidence for a strong involvement of chemokines in postischemic BBB-breakdown. In a previous study, we showed that monocyte chemoattractant protein-1 (MCP-1)-deficiency results in a markedly reduced inflammatory reaction with decreased levels of interleukin-6, interleukin-1β, and granulocyte colony-stimulating factor after experimental stroke.

Photochemically induced ischemic stroke in rats.

Background: Photothrombosis was introduced as a model of ischemic stroke by Watson et al. in 1985. In the present paper, we describe a protocol to induce photothrombotic infarcts in rats.

Continuous positive airway pressure ventilation for acute ischemic stroke: a randomized feasibility study.

Background And Purpose: Sleep-related breathing disorders occur frequently after stroke. We assessed the feasibility of continuous positive airway pressure (CPAP) treatment initiated in the first night after stroke.

Methods: In this open-label, parallel-group trial, 50 patients were randomly assigned to the CPAP therapy or to the control group.