Journal Article

In genetic amyotrophic lateral sclerosis (ALS), the clinical phenotypes, disease progression and neurofilament light chain (NfL) levels are incompletely characterized.In a total cohort of 1988 ALS patients, a subcohort of genetic ALS linked to C9orf72 (n = 137), SOD1 (n = 54), TARDBP (n = 27), and FUS (n = 19) was investigated. The phenotypes of onset region, propagation and motor neuron involvement were analyzed according to the OPM classification. [...]

N-methyl-D-aspartate receptor (NMDAR)-antibody encephalitis is a life-threatening neuropsychiatric disorder requiring prompt immunotherapy. The earliest features are mental-state changes, often mistaken for primary psychosis. [...]

Current antidementia drugs can temporarily slow cognitive decline in Alzheimer's disease but are underused. Regional and socioeconomic disparities, including limited specialist access in rural or deprived areas, may exacerbate inequities and challenge the rollout of emerging disease-modifying therapies. [...]

Neonatal encephalopathy of hypoxic-ischemic origin remains a leading cause of global neonatal mortality. Over the past decades, various neuroprotective strategies have been explored; however, therapeutic hypothermia remains the only clinically approved intervention to date. [...]

We assessed associations of cancer diagnoses with neuropathology of Alzheimer's disease (AD) and related dementias.We retrieved 2288 cases from the National Alzheimer Coordinating Center (NACC) cohort with available information on cancer diagnoses and neuropathological scoring of Braak stages, Thal amyloid phases, neuritic plaques, TDP-43 pathology, and Lewy body pathology. We used Bayesian ordinal regression to assess associations of prevalent or incident cancer diagnoses with global cognition and postmortem neuropathological scores.We found extreme evidence (Bayes factor [BF] > 2000) that both prevalent and incident cancer diagnoses were associated with better global cognition, strong evidence (BF = 26) for an association of a prevalent cancer diagnosis with lower TDP-43 pathology, and weak evidence (BF = 3.2) for an association with lower Lewy body pathology.Our data suggest that selective survival and biological effects may contribute to the lower risk of dementia in people with a cancer diagnosis.A prevalent diagnosis of cancer was associated with a lower risk of cognitive decline in older individuals.A prevalent diagnosis of cancer was associated with a lower risk of TDP-43 pathology and Lewy body pathology in older individuals.Effects of cancer on TDP-43 pathology were maintained when controlling for degree of cognitive decline..

Paraneoplastic Lambert-Eaton myasthenic syndrome (pLEMS) is well-established in small-cell lung cancer (SCLC), but data on other malignancies are limited. We aimed to define the clinical phenotype of pLEMS in non-SCLC cancers (non-SCLC-pLEMS) relative to SCLC-associated LEMS (SCLC-pLEMS) and autoimmune LEMS (aiLEMS).Retrospective analysis was conducted to compare patients with SCLC-pLEMS, aiLEMS and non-SCLC-pLEMS from the European LEMS registry, and further non-SCLC-pLEMS cases were identified by a systematic review following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.The registry included 72 aiLEMS, 12 SCLC-pLEMS, and 11 non-SCLC-pLEMS patients. [...]

In a cohort of persons with chronic coronary syndrome, we investigated associations of blood-based biomarkers of neurodegenerative diseases with cognitive scores and mild cognitive impairment (MCI) after ten years. Biomarker levels were measured in baseline samples of serum (glial fibrillary acid protein, neurofilament light chain (NfL), phosphorylated tau181; n = 363) or plasma (amyloid-β42/40-ratio, total-tau; n = 232). [...]

Compartmentalized inflammation is a key driver of multiple sclerosis (MS) progression, but the mechanisms sustaining its persistence remain unclear. A hallmark of this persistent and slowly evolving inflammatory process is chronic active MS lesions. [...]

Neuroinflammation plays a vital role in determining the trajectory of Alzheimer's disease (AD) progression. In the AD brain, microglial exposure to pathological amyloid β (Aβ42) and tau peptide aggregates results in an NLRP3 inflammasome-activated proinflammatory response that ranges from mild to severe. [...]

Pulsed Field Ablation (PFA) can establish pulmonary vein isolation via irreversible electroporation and is believed to reduce overall complications; however, periprocedural stroke has also been reported after PFA procedures. Assessment of microembolic signals (MES) measured by transcranial doppler (TCD) allows to monitor cerebral embolization during the procedure and to identify higher risk procedural steps. [...]