48 documents found, page 1 of 5

Pseudotumoral Isolated Neurosarcoidosis

Multiple Sclerosis Relapse Incomplete Recovery and Associated Factors - a Syste...

Objectives: We conducted a meta-analysis to assess the frequency of incomplete recovery from multiple sclerosis (MS) relapses and a systematic review to evaluate the influence of six factors on incomplete recovery: relapse severity, age, sex, disease duration, disease-modifying treatment use, and the presence of contrast-enhancing lesions at relapse. Methods: We searched Scientific databases to identify suitabl...

Neurological Involvement in a Portuguese Cohort of IgG4-Related Disease

Introduction: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was to describe a cohort of neurological IgG4-RD patients.Methods: Patients were recruited from a neuroimmunology tertiary center. Clinical, laboratory, neuroimaging and...

Paraparesis Caused by Chronic Lymphocytic Leukemia Mass Compressing the Spinal ...

B-cell chronic lymphocytic leukemia (CLL-B) is the commonest adult-onset leukemia. Although extra-medullary disease has been reported, neurological consequences are seldom a concern. We aim to report an unusual case of a 66 years-old woman who developed subacute paraparesis due to dorsal (D2-D6) spinal cord compression by an extradural CLL mass, 2 years after CLL diagnosis.; A leucemia linfocítica crónica tipo ...

Distal Involvement and Subsarcolemmal Minicore-Like Areas in a Case of POGLUT1-...

Pathogenic biallelic variants in POGLUT1 were linked to limb-girdle muscular dystrophy R21 (LGMD R21), a new type of LGMD featuring pelvic and shoulder girdle weakness, variable age of onset, slowly progressive course, and “inside-to-outside” fatty degeneration pattern in muscle magnetic resonance imaging (MRI). We describe a 54-year-old female with an infantile-onset, slowly progressive, pelvicgirdle myopathy,...

Bilateral Neurolymphomatosis of the Cerebellopontine Angle

Tumours of the cerebellopontine angle and internal auditory canal are frequent, typically vestibular schwannomas (only rarely bilateral) and meningiomas. We describe the case of a 76-year-old man who presented with persistent peripheral facial paralysis, which proved to be secondary to a process of bilateral primary neurolymphomatosis of the facial and vestibulocochlear cranial nerves, caused by sequential invo...

Altered plasma protein profiles in genetic FTD – a GENFI study

Background: Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The aim of this study was to explore the levels of multiple plasma proteins in individuals from families with genetic frontotemporal dementia. Methods: Blood samples from 693 pa...

Examining empathy deficits across familial forms of frontotemporal dementia wit...

Background: Reduced empathy is a common symptom in frontotemporal dementia (FTD). Although empathy deficits have been extensively researched in sporadic cases, few studies have explored the differences in familial forms of FTD. Methods: Empathy was examined using a modified version of the Interpersonal Reactivity Index (mIRI) in 676 participants from the Genetic FTD Initiative: 216 mutation-negative controls, 1...

A data-driven disease progression model of fluid biomarkers in genetic frontote...

Several CSF and blood biomarkers for genetic frontotemporal dementia have been proposed, including those reflecting neuroaxonal loss (neurofilament light chain and phosphorylated neurofilament heavy chain), synapse dysfunction [neuronal pentraxin 2 (NPTX2)], astrogliosis (glial fibrillary acidic protein) and complement activation (C1q, C3b). Determining the sequence in which biomarkers become abnormal over the ...

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia:...

Background: Neuroinflammation is emerging as an important pathological process in frontotemporal dementia (FTD), but biomarkers are lacking. We aimed to determine the value of complement proteins, which are key components of innate immunity, as biomarkers in cerebrospinal fluid (CSF) and plasma of presymptomatic and symptomatic genetic FTD mutation carriers. Methods: We measured the complement proteins C1q and ...