Clinical Manifestations.

Background: The effect of amyloid-b brain deposition on cognition is still debated, since it has been shown that its accumulation begins almost 15 years before cognitive symptoms' onset, then reaches a plateau while cognition continues to decline. We studied if there is a parallel between amyloid-b deposition and cognitive performances in young-onset Mild Cognitive Impairment (MCI) patients, and if it is associated to symptoms' duration.

Method: Subjects with a diagnosis of MCI and symptoms' onset ≤ 65 years underwent neuropsychological assessment, Magnetic Resonance Imaging, and (F)Flutemetamol-PET (amy-PET).

Clinical Manifestations.

Background: Diagnosis in patients with Mild Behavioural Impairment (MBI) and with Mild Cognitive Impairment (MCI) with predominant executive deficits (eMCI) is often challenging, as they may be representing the early phase of both Alzheimer's Dementia (AD) as well as behavioural variant Frontotemporal Dementia (bvFTD). If neuropathology biomarkers aren't available, diagnosis is even more difficult. We evaluated the performance of classification of different clinical diagnostic criteria for behavioural/dysexecutive AD (without biomarkers) in MBI and eMCI.

Comparison of Serum and Cerebrospinal Fluid Neurofilament Light Chain Concentrations Measured by Ella™ and Lumipulse™ in Patients with Cognitive Impairment.

Objective: Neurofilament light chain proteins (NfLs) are considered a promising biomarker of neuroaxonal damage in several neurological diseases. Their measurement in the serum and cerebrospinal fluid (CSF) of patients with dementia may be especially useful. Our aim was to compare the NfL measurement performance of two advanced technologies, specifically the Ella™ microfluidic platform and the Lumipulse™ fully automated system, in patients with cognitive disorders.

Resting-state networks and anosognosia in Alzheimer's disease.

Background: Recent evidence suggests that anosognosia or unawareness of cognitive impairment in Alzheimer's Disease (AD) may be explained by a disconnection between brain regions involved in accessing and monitoring information regarding self and others. It has been demonstrated that AD patients with anosognosia have reduced connectivity within the default mode network (DMN) and that anosognosia in people with prodromal AD is positively associated with bilateral anterior cingulate cortex (ACC), suggesting a possible role of this region in mechanisms of awareness in the early phase of disease. We hypothesized that anosognosia in AD is associated with an imbalance between the activity of large-scale resting-state functional magnetic resonance imaging (fMRI) networks, in particular the DMN, the salience network (SN), and the frontoparietal network (FPN).

Neurofilaments Light Chain in Neurodegenerative Dementias: A Review of Imaging Correlates.

Neurofilaments light chain (NfLs) are currently recognized as a marker of axonal injury and degeneration. Their measurement in biological fluids has a promising role in the diagnosis, prognosis, and monitoring of the therapeutic response in neurological diseases, including neurodegenerative dementias. In recent years, their relationship with clinical phenotypes and measures of disease severity has been extensively studied.

Neuroanatomical Correlates of Cognitive Tests in Young-onset MCI.

Background: Mild Cognitive Impairment (MCI) is a heterogeneous condition characterised by cognitive changes that do not affect everyday functioning and may represent a predementia phase. Research on the neuroanatomical correlates of cognitive tests used to diagnose MCI is heterogeneous and has mainly focused on elderly populations of patients with MCI, usually well above the age of 65. However, the effect of ageing on brain structure is known to be substantial and to affect brain-behaviour associations in older people.

The association between lifelong personality and clinical phenotype in the FTD-ALS spectrum.

Introduction: Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are two phenotypes of the same neurodegenerative disease, the FTD-ALS spectrum. What determines the development of one rather than the other phenotype is still unknown. Based on the clinical observation that patients' personality seems to differ between the two phenotypes, i.

Young Onset Alzheimer's Disease Associated with Hexanucleotide Expansion: Further Evidence for a Still Unsolved Association.

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are recognized as part of a disease continuum (FTD-ALS spectrum), in which the most common genetic cause is chromosome 9 open reading frame 72 () gene hexanucleotide repeat expansion. The clinical phenotype of patients carrying this expansion varies widely and includes diseases beyond the FTD-ALS spectrum. Although a few cases of patients with expansion and a clinical or biomarker-supported diagnosis of Alzheimer's disease (AD) have been described, they have been considered too sparse to establish a definite association between the expansion and AD pathology.