Neuropathological spectrum of anti-IgLON5 disease and stages of brainstem tau pathology: updated neuropathological research criteria of the disease-related tauopathy.

Anti-IgLON5 disease is a unique condition that bridges autoimmunity and neurodegeneration. Since its initial description 10 years ago, an increasing number of autopsies has led to the observation of a broader spectrum of neuropathologies underlying a particular constellation of clinical symptoms. In this study, we describe the neuropathological findings in 22 patients with anti-IgLON5 disease from 9 different European centers.

Enhanced expression of autophagy-related p62 without increased deposits of neurodegeneration-associated proteins in glioblastoma and surrounding tissue - An autopsy-based study.

Neurodegenerative diseases are a major health burden. The underlying causes are not yet fully understood, but different mechanisms such as cell stress and chronic inflammation have been described as contributing factors. Neurodegenerative changes have been observed in the vicinity of brain tumors, typically around slowly growing benign lesions.

Histotype-Dependent Oligodendroglial PrP Pathology in Sporadic CJD: A Frequent Feature of the M2C "Strain".

In sporadic Creutzfeldt-Jakob disease, molecular subtypes are neuropathologically well identified by the lesioning profile and the immunohistochemical PrP deposition pattern in the grey matter (histotypes). While astrocytic PrP pathology has been reported in variant CJD and some less frequent histotypes (e.g.

Proteomic characterisation of polyglucosan bodies in skeletal muscle in RBCK1 deficiency.

Aims: Several neurodegenerative and neuromuscular disorders are characterised by storage of polyglucosan, consisting of proteins and amylopectin-like polysaccharides, which are less branched than in normal glycogen. Such diseases include Lafora disease, branching enzyme deficiency, glycogenin-1 deficiency, polyglucosan body myopathy type 1 (PGBM1) due to RBCK1 deficiency and others. The protein composition of polyglucosan bodies is largely unknown.

Somatostatin Receptor Subtype Expression in Patients with Acromegaly and Complicated Clinical Course.

Somatostatin analogues are considered to be the first line of treatment in acromegaly. Somatostatin analogues of the first generation mainly target the somatostatin receptor (SSTR) subtype 2 and have been proven efficient in the majority of patients with acromegaly. Pasireotide was the first somatostatin analogue also substantially targeting the SSTR subtype 5.

Case Report and Review of the Literature: A New and a Recurrent Variant in the Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.

Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutations of the gene encoding the mitochondrial valyl-tRNA synthetase were associated with early onset encephalomyopathies or encephalocardiomyopathies with major clinical features such as hypotonia, developmental delay, brain MRI changes, epilepsy, hypertrophic cardiomyopathy, and plasma lactate elevation.

Giant silent corticotrope pituitary adenoma in a patient with complicated clinical course.

Not required for Clinical Vignette.

A TOMM40/APOE allele encoding APOE-E3 predicts high likelihood of late-onset Alzheimer's disease in autopsy cases.

Background: The APOE-ε4 allele is an established risk factor for Alzheimer's disease (AD). TOMM40 located adjacent to APOE has also been implicated in AD but reports of TOMM40 associations with AD that are independent of APOE-ε4 are at variance.

Methods: We investigated associations of AD with haplotypes defined by three TOMM40 and two APOE single nucleotide polymorphisms in 73 and 71 autopsy cases with intermediate and high likelihood of AD (defined by BRAAK stages View Article and Find Full Text PDF

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Glycogen storage disease XV is caused by variants in the glycogenin-1 gene, GYG1, and presents as a predominant skeletal myopathy or cardiomyopathy. We describe two patients with late-onset myopathy and biallelic GYG1 variants. In patient 1, the novel c.

Case of the month 1-2019: CNS high-grade neuroepithelial tumor with alteration.

No abstract available.

Evaluation of Clinical and Paraclinical Findings for the Differential Diagnosis of Autoimmune and Infectious Encephalitis.

The differential diagnosis of autoimmune and infectious encephalitis is notoriously difficult. For this study, we compare the presenting clinical symptoms and paraclinical test results of autoimmune and infectious encephalitis patients. A clinical algorithm for the diagnosis of autoimmune encephalitis has recently been published.

Progressive Multifocal Leukoencephalopathy Following Combined Rituximab-Based Immune-Chemotherapy for Post-transplant Lymphoproliferative Disorder in a Renal Transplant Recipient: A Case Report.

Background: Transplant recipients are at risk of developing progressive multifocal leukoencephalopathy (PML), an opportunistic infection due to reactivation of JC virus. Post-transplant lymphoproliferative disorders (PTLDs) represent a common malignancy in this population, and antiCD20-therapy has become an established component of its treatment.

Case Presentation: We describe the first case of a renal allograft transplant recipient with PTLD who received rituximab-based immune-chemotherapy and developed PML shortly thereafter.

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case-control study using whole-exome sequencing data from 522 early-onset cases and 584 controls. The most recurrent rearrangement was a 17q21.31 microduplication, overlapping the CRHR1, MAPT, STH and KANSL1 genes that was found in four cases, including one de novo rearrangement, and was absent in controls.

Familial early-onset dementia with complex neuropathologic phenotype and genomic background.

Despite significant progress in our understanding of hereditary neurodegenerative diseases, the list of genes associated with early-onset dementia is not yet complete. In the present study, we describe a familial neurodegenerative disorder characterized clinically as the behavioral and/or dysexecutive variant of Alzheimer's disease with neuroradiologic features of Alzheimer's disease, however, lacking amyloid-β deposits in the brain. Instead, we observed a complex, 4 repeat predominant, tauopathy, together with a TAR DNA-binding protein of 43 kDa proteinopathy.

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with childhood or juvenile onset of myopathy, 8 of whom also had rapidly progressive cardiomyopathy, requiring heart transplant in 4. The patients were homozygous or compound heterozygous for missense or truncating mutations in RBCK1, which encodes for a ubiquitin ligase, and had extensive polyglucosan accumulation in skeletal muscle and in the heart in cases of cardiomyopathy.

[Special features of coronary artery involvement in women with rheumatoid arthritis].

Aim of the study was to assess the state of coronary arteries and to reveal peculiarities of their involvement in women with rheumatoid arthritis (RA). We examined 51 women: 30 patients with RA and 21 women of the control group. Average age of patients with RA was 49+/-7.

[Relationship between changes in brachiocephalic arteries and osteoporosis in women with rheumatoid arthritis].

This study included 50 women with rheumatoid arthritis (mean age of 50.6 +/- 6.4 years) examined by duplex scanning of brachiocephalic arteries and double-energy X-ray absorptiometry.

[Duplex scanning of brachiocephalic arteries and multislice spiral computed tomography of coronary arteries in the comprehensive evaluation of the arteries in women with rheumatoid arthritis].

Comprehensive examination was made in women (mean age 49.6 +/- 7.4 years) with rheumatoid arthritis diagnosed abnormalities of brachiocephalic and coronary arteries in 86% of cases.

[Orbital lymphoma].

Introduction: Orbital lymphomas are neoplasms with increasing incidence in recent years in immunocompromised, as well as immunocompetent patients, which defines their social importance.

Aim: To describe and analyze the experience of the University hospital "'Sv. Ivan Rilski" with the treatment of this pathology for the period 1997-2008.

[On the polypathias in males].

The structure and prevalence of polypatias (i.e. three and more diseases in single person), their qualitative and quantitative characteristics were investigated on the basis of comprehensive population study of 1050 males aged from 18 and older in unorganized rural population.

Ependymoma of the cauda equina starting with communicating hydrocephalus: a case report.

The presence of concomitant hydrocephalus in cases with spinal cord tumors is relatively rare. Here, we describe a case of myxopapillary ependymoma of the cauda equina starting with communicating hydrocephalus in a 14-year-old boy. The patient presented to the clinic without underlying causes of hydrocephalus on the neuroimaging data.