Machine learning-driven diagnosis of multiple sclerosis from whole blood transcriptomics.

Multiple sclerosis (MS) is a neurological disorder characterized by immune dysregulation. It begins with a first clinical manifestation, a clinically isolated syndrome (CIS), which evolves to definite MS in case of further clinical and/or neuroradiological episodes. Here we evaluated the diagnostic value of transcriptional alterations in MS and CIS blood by machine learning (ML).

Patient with Corticobasal Syndrome Showing Disease-Associated Biomarkers of Dementia with Lewy Bodies: A Treviso Dementia (TREDEM) Registry Case Report.

Background: An 82-year-old right-handed man, a retired teacher, reported the occurrence, three years earlier, of difficulties in moving his left arm and foot, tremor in his left hand, and gestures of the left upper limb that appeared to be independent of the patient's will.

Objective: We describe an unusual case of corticobasal syndrome (CBS) showing disease-associated biomarkers of dementia with Lewy bodies (DLB).

Methods: Clinical, neuropsychological, imaging, and biomarker evaluations were conducted, including tau and amyloid-β levels in the cerebrospinal fluid (CSF) and a RT-QuIC assay for α-synuclein both in the CSF and olfactory mucosa (OM), as well as a QEEG assessment.

Association between the frailty index and vascular brain damage: The Treviso Dementia (TREDEM) registry.

Purpose: An association between frailty and vascular brain damage (VBD) has been described in older adults. However, most studies have identified frailty according to the phenotypic model. It is less clear whether frailty, operationalized as an accumulation of health deficits, is associated with the presence and severity of VBD.

"Occipital Pole" Sign on 18 F-FDG PET for Dementia With Lewy Bodies and Posterior Cortical Atrophy : Evidence From the Treviso Dementia (TREDEM) Registry.

The 18 F-FDG PET images of dementia with Lewy bodies and posterior cortical atrophy, a visual-cognitive phenotype described in patients with Alzheimer disease, show occipital lobe hypometabolism with relative sparing of the primary visual cortex (PVC) generating the "occipital tunnel" sign proposed by Sawyer and Kuo in 2017, which is viewable on the medial sagittal projection. We believe that the saving of PVC compared with the lateral occipital cortex can be better appreciated by capturing the posterior projection of the PVC in a 3D stereotactic surface projection map, and we propose the name of "occipital pole" sign for this evidence.

The phenotypic convergence between microglia and peripheral macrophages during development and neuroinflammation paves the way for new therapeutic perspectives.

Microglia, the tissue resident macrophages of the brain, are increasingly recognized as key players for central nervous system development and homeostasis. They are long-lived cells deriving from a transient wave of yolk-sac derived erythro-myeloid progenitors early in development. Their unique ontology has prompted the search for specific markers to be used for their selective investigation and manipulation.

Wide Cytokine Analysis in Cerebrospinal Fluid at Diagnosis Identified CCL-3 as a Possible Prognostic Factor for Multiple Sclerosis.

Apart from IgG oligoclonal bands, no other biomarker has, to date, been validated for diagnostic and/or prognostic purposes in multiple sclerosis (MS). To investigate a wide panel of cytokines and chemokines in the cerebrospinal fluid (CSF) of relapsing-remitting MS (RRMS) patients and evaluate their association with clinical and magnetic resonance imaging (MRI) parameters, as well as their predictive clinical value. Fifty-one RRMS at clinical onset and 17 other not inflammatory neurological disorders (ONINDs) underwent brain MRI (including 3D-T1, 3D-FLAIR, and 3-DIR sequences) and CSF examination.

Convergence between Microglia and Peripheral Macrophages Phenotype during Development and Neuroinflammation.

Differently from other myeloid cells, microglia derive exclusively from precursors originating within the yolk sac and migrate to the CNS under development, without any contribution from fetal liver or postnatal hematopoiesis. Consistent with their unique ontology, microglia may express specific physiological markers, which have been partly described in recent years. Here we wondered whether profiles distinguishing microglia from peripheral macrophages vary with age and under pathology.

Multiple Sclerosis Incidence and Prevalence Trends in the Province of Padua, Northeast Italy, 1965-2018.

Background: Previous studies, dating back to the 1960s disclosed a progressive increase in multiple sclerosis (MS) incidence and prevalence in the Province of Padua. To further analyze whether this trend is the effect of the improved diagnostic procedures or is primarily related to a real increase risk of MS, we analyzed MS incidence and prevalence of the 5-year period 2011-2015.

Methods: Patients with a diagnosis of MS or clinically isolated syndrome highly suggestive of MS were included in the study.

PM2.5 levels strongly associate with multiple sclerosis prevalence in the Province of Padua, Veneto Region, North-East Italy.

Background: Incidence and prevalence trends of multiple sclerosis (MS) in the Province of Padua, North-East Italy, suggest that environmental factors may be associated with increased MS risk.

Objective: To investigate the association of PM2.5 with MS prevalence in one of the most polluted geographical area of Italy.

Intrathecal K free light chain synthesis in multiple sclerosis at clinical onset associates with local IgG production and improves the diagnostic value of cerebrospinal fluid examination.

Background: The pathological significance and the diagnostic usefulness of intrathecal κ and λ free light chain (FLC) synthesis in Multiple Sclerosis (MS) are debated.

Methods: Paired cerebrospinal fluid (CSF) and serum specimens from 70 relapsing remitting MS (RRMS), 40 with and 30 without CSF restricted IgG Oligoclonal Band (IgGOB), and 37 from healthy controls (HC) were analyzed. IgG, IgM, κFLC and λFLC concentrations and indexes were evaluated.

Neural progenitor cells orchestrate microglia migration and positioning into the developing cortex.

Microglia are observed in the early developing forebrain and contribute to the regulation of neurogenesis through still unravelled mechanisms. In the developing cerebral cortex, microglia cluster in the ventricular/subventricular zone (VZ/SVZ), a region containing Cxcl12-expressing basal progenitors (BPs). Here we show that the ablation of BP as well as genetic loss of Cxcl12 affect microglia recruitment into the SVZ.

Case of sensory ataxic ganglionopathy-myelopathy in copper deficiency.

Spinal cord involvement associated with severe copper deficiency has been reported in the last 8 years. Copper deficiency may produce an ataxic myelopathy. Clinical and neuroimaging findings are similar to the subacute combined degeneration seen in patients with vitamin B12 deficiency.

Neurological complications of celiac disease and autoimmune mechanisms: a prospective study.

Humoral immune mechanisms may have a role in the neurological complications of celiac disease (CD). We assessed 71 CD patients for neurologic manifestations and presence of serum antibodies to neural antigens. Sixteen patients (22.

Antibodies to muscle and ganglionic acetylcholine receptors (AchR) in celiac disease.

Background: About 2.5% of patients with idiopathic peripheral neuropathy or idiopathic dysautonomia have underlying celiac disease (CD). Antibodies to ganglioside have been reported in CD patients with neuropathy.

Neurological complications of celiac disease and autoimmune mechanisms: preliminary data of a prospective study in adult patients.

Antibodies to gangliosides and Purkinje cells have been reported in patients with celiac disease (CD) with neuropathy and ataxia, respectively. Whether these antibodies are pathogenic is not clear. The response of neurological symptoms and antibody titers to a gluten-free diet is still controversial.