Marchiafava-Bignami disease: why not Marchiafava-Bignami-Carducci disease?

The Marchiafava-Bignami disease has a curious backstory, namely, the publication in 1898 of the Contribution to the Study of Nonsuppurative Encephalitis (Carducci A in Riv Psicol Psichiat Neuropat 8-9:125-135, 1898), in which the neo-graduate Agostino Carducci described the disease that the pathologists Ettore Marchiafava and Amico Bignami would report 5 years later.

Delirium and Dementia in the Elderly: Sometimes Associated or Always Together?

Background: In the elderly, the association of delirium and dementia can cause diagnostic problems because they share the same symptom of confusion. Delirium is often misdiagnosed as dementia and treated inappropriately, ignoring that it could be successfully addressed, which can lead to increased health risks up to death.

Summary: Confusion indicates that functional reserve fails to compensate for the action of stressors.

The cognitive phenotypes of Creutzfeldt-Jakob disease: comparison with secondary metabolic encephalopathy.

Background: Rapidly progressive cognitive impairment is a diagnostic criterion in Creutzfeldt-Jakob disease (CJD), but the diagnosis is usually reached when an analysis of cognitive aspects is no longer possible.

Objective: This study aims to delineate the cognitive phenotypes preceding severe dementia in CJD compared to secondary metabolic encephalopathies (SME) with rapid cognitive impairment.

Methods: Patients with rapidly progressive neurological symptoms underwent neuropsychological evaluation, analysis of cerebrospinal fluid (CSF) and codon 129 polymorphism of the prion protein gene (PRNP), magnetic resonance imaging (MRI), and single positron emission computed tomography (SPECT).

Why is delirium more frequent in the elderly?

An aging-related reduction in the brain's functional reserve may explain why delirium is more frequent in the elderly than in younger people insofar as the reserve becomes inadequate to cover the metabolic requirements that are critically increased by stressors. The aim of this paper is to review the normal aging-related changes that theoretically compromise complex mental activities, neuronal and synaptic densities, and the neurocomputational flexibility of the functional reserve. A pivotal factor is diminished connectivity, which is substantially due to the loss of synapses and should specifically affect association systems and cholinergic fibres in delirious patients.

Deciphering delirium through semantics: a selective synopsis.

During the course of the more than 2000 years of its recorded history, delirium has been given a very large number of different names, including phrenitis and paraphrenitis, mania and délire maniaque, (febrile, agitated, asthenic, lethargic, reversible toxic, symptomatic, exogenous) psychosis, inattention, acute and reversible dementia and insanity, amentia and sensorial phrenosis, reversible cognitive dysfunction, paralepsia, confusion and mental confusion, disorientation, dysergasia, and incoherence. Such a wide range of names with related definitions and pathogenic hypotheses not only bears witness to the interest that delirium has aroused in clinical investigators, but also reflects the difficulties in scientifically investigating its intrinsic nature. Furthermore, these difficulties have raised doubts about making a diagnosis that may explain why its incidence is reported to be under-estimated.

The puzzle of preserved cognition in the oldest old.

Although epidemiological studies predict an exponential increase in the prevalence of dementia with age, recent studies have demonstrated that the oldest old are actually less frequently affected by dementia than the younger elderly. To explain this, I suggest a parallel between brain ageing and Alzheimer's disease (AD) and assume that theories concerning the brain's vulnerability to AD and its individual variability may also explain why some of the oldest old remain cognitively efficient. Some theories argue that AD is due to the continuing presence of the immature neurones vulnerable to amyloid beta protein (Aß) that are normally involved in brain development and then removed as a result of cell selection by the proteins associated with both brain development and AD.

Analyzing theory of mind impairment in patients with behavioral variant frontotemporal dementia.

Objective: Behavioral variant frontotemporal dementia (bvFTD) and theory of mind (ToM) have common neuroanatomical aspects. This pilot study analyzed the qualitative features of ToM relatively to the site of prefrontal atrophy, aiming to identify a neurobehavioral pattern of bvFTD.

Method: Fourteen bvFTD patients were compared with 14 healthy subjects with similar age, years of schooling, gender distribution, and social background.

Neuro-Behçet's disease presenting as an isolated progressive cognitive and behavioral syndrome.

Behçet's disease is a chronic inflammatory disorder manifesting as a vasculitis that affects arteries and veins of any size. Up to 44% of cases may also present with neurological symptoms, thus defining Neuro-Behçet's disease. We describe a case of Neuro-Behçet's disease characterized by progressive behavioral and cognitive deterioration prevailing over other neurological symptoms, without evident systemic involvement.

An In Vivo C-(R)-PK11195 PET and In Vitro Pathology Study of Microglia Activation in Creutzfeldt-Jakob Disease.

Microgliosis is part of the immunobiology of Creutzfeldt-Jakob disease (CJD). This is the first report using C-(R)-PK11195 PET imaging in vivo to measure 18 kDa translocator protein (TSPO) expression, indexing microglia activation, in symptomatic CJD patients, followed by a postmortem neuropathology comparison. One genetic CJD (gCJD) patient, two sporadic CJD (sCJD) patients, one variant CJD (vCJD) patient (mean ± SD age, 47.

Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium.

The BrainNet Europe consortium assessed the reproducibility in the assignment of the type of frontotemporal lobar degeneration (FTLD) with TAR DNA-binding protein (TDP) 43 following current recommendations. The agreement rates were influenced by the immunohistochemical (IHC) method and by the classification strategy followed. p62-IHC staining yielded good uniform quality of stains, but the most reliable results were obtained implementing specific Abs directed against the hallmark protein TDP43.

A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms.

Frontotemporal lobar degeneration (FTLD) is a very heterogeneous disorder. It is genetically linked to three major genes: microtubule-associated protein tau (MAPT), progranulin (GRN), and C9ORF72. In particular, mutations in GRN account for 5-10% of all cases and give rise to a wide spectrum of clinical phenotypes, ranging from behavioral frontotemporal dementia (bvFTD) to primary progressive aphasia, including progressive non-fluent aphasia (PNFA) and semantic dementia, and corticobasal syndrome (CBS).

APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.

Aβ is the main component of amyloid deposits in Alzheimer disease (AD) and its aggregation into oligomers, protofibrils and fibrils is considered a seminal event in the pathogenesis of AD. Aβ with C-terminus at residue 42 is the most abundant species in parenchymal deposits, whereas Aβ with C-terminus at residue 40 predominates in the amyloid of the walls of large vessels. Aβ peptides with other C-termini have not yet been thoroughly investigated.

The need to unify neuropathological assessments of vascular alterations in the ageing brain: multicentre survey by the BrainNet Europe consortium.

Here, we summarise the results after carrying out a large survey regarding the assessment of vascular alterations, both vessel changes and vascular lesions in an inter-laboratory setting. In total, 32 neuropathologists from 22 centres, most being members of BrainNet Europe (BNE), participated by filling out a questionnaire with emphasis on assessment of common vascular alterations seen in the brains of aged subjects. A certain level of harmonisation has been reached among BNE members regarding sectioning of the brain, harvesting of brain tissue for histology and staining used when compared to the survey carried out in 2006 by Pantoni and colleagues.

Alzheimer's disease: ageing-related or age-related? New hypotheses from an old debate.

The view that Alzheimer's disease (AD) is a fatal outcome of ageing prevails over the view that it mainly affects people aged 75-95. The former is based on the exponential increase in the incidence of AD with ageing, while the latter on AD prevalence rates. Both views share the idea that neurofibrillary degeneration (NFD) is secondary to the loading of β-protein (Aβ) and its more toxic species in nervous tissue that occurs with ageing in everybody, but is greater in people predisposed to AD.

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

We report a novel presenilin1 (PSEN1) gene mutation (I143 V) in a four-generation family with Alzheimer's disease. Clinical, molecular, and neuropathological examinations were performed on index patient; thirteen affected subjects were also identified. The index patient presented at 55 with personality changes, apathy, reduction of verbal fluency, and temporal and spatial disorientation.

Presence of reactive microglia and neuroinflammatory mediators in a case of frontotemporal dementia with P301S mutation.

Background: Recent findings, showing the presence of an inflammatory process in the brain of transgenic mice expressing P301S mutated human tau protein, indicate that neuroinflammation may contribute to tau-related degeneration in frontotemporal dementia and parkinsonism linked to chromosome 17 with tau mutations (FTDP-17T).

Objective: To investigate the occurrence of neuroinflammatory changes in the brain of a patient affected by FTDP-17T associated with the P301S mutation and showing a frontotemporal dementia phenotype as well as in the brain of a patient affected by another FTDP-17T phenotype: multiple system tauopathy with presenile dementia.

Methods: We used immunohistochemical methods to visualize activated microglia, interleukin-1b (IL-1b)-, cyclooxygenase-2 (COX-2)-expressing cells.

Myoclonus in Creutzfeldt-Jakob disease: polygraphic and video-electroencephalography assessment of 109 patients.

We used electroencephalography (EEG)-polygraphic recordings to classify myoclonus in 109 patients with Creutzfeldt-Jakob disease (CJD) on the basis of its electromyography (EMG) pattern, time course, distribution, and EEG correlates. We recorded myoclonic jerks in 55 patients (50.4%), and we classified them as periodic myoclonus in 28, rhythmic in 13, and irregular in 20 (6 patients showed two types of myoclonus).

Low-voltage bilateral pallidal stimulation for severe meige syndrome in a patient with primary segmental dystonia: case report.

Background And Importance: Meige syndrome (MS) is an adult-onset segmental dystonia characterized by the combination of upper and lower cranial involvement. Its treatment is challenging and the use of oral medication or of botulinum neurotoxin treatment is not decisive. Deep brain stimulation of the globus pallidus internum (GPi DBS) has been used occasionally in severe cases.

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

Objective: To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation.

Design: Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records.