The Role of Simultaneous Medical Conditions in Idiopathic Normal Pressure Hydrocephalus.

Background: Idiopathic normal pressure hydrocephalus (iNPH) is a chronic neurologic syndrome that affects the elderly population in a context of concomitant medical conditions. The aim of this study was to understand the significance of comorbidities using 4 validated and specific clinical scores: Cumulative Illness Rating Scale (CIRS), American Society of Anesthesiologists (ASA) score, Comorbidity Index (CMI), and Charlson Comorbidity Index (CCI).

Methods: From 2015 until 2019, the Bologna PRO-Hydro multidisciplinary team selected 63 patients for shunt surgery.

The Combination of Metabolic Posterior Cingulate Cortical Abnormalities and Structural Asymmetries Improves the Differential Diagnosis Between Primary Progressive Aphasia and Alzheimer's Disease.

Differential diagnosis between primary progressive aphasia (PPA) and Alzheimer's disease (AD) could be difficult if based on clinical grounds alone. We evaluated the combination of proton MR spectroscopy of posterior cingulate cortex (PCC) and quantitative structural imaging asymmetries to differentiate PPA from AD patients. A greater left-lateralized temporo-parietal atrophy (higher accuracy for the PCC, 81.

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Background: 5-10% of amyotrophic lateral sclerosis (ALS) patients presented a positive family history (fALS). More than 30 genes have been identified in association with ALS/frontotemporal dementia (FTD) spectrum, with four major genes accounting for 60-70% of fALS. In this paper, we aimed to assess the contribution to the pathogenesis of major and rare ALS/FTD genes in ALS patients.

Cognitive Profile and Its Evolution in a Cohort of Multiple System Atrophy Patients.

Cognitive decline is not a characteristic feature of multiple system atrophy (MSA), but recent evidence suggests cognitive impairment as an integral part of the disease. We aim to describe the cognitive profile and its progression in a cohort of patients with MSA. We retrospectively selected patients referred to our department with a clinical diagnosis of MSA who were evaluated at least once a year during the course of the disease and underwent a comprehensive neuropsychological evaluation.

Anterior Callosal Angle: A New Marker of Idiopathic Normal Pressure Hydrocephalus?

Objective: Diagnosing idiopathic normal pressure hydrocephalus (iNPH) still remains a clinical challenge. The callosal angle (CA) is a widely used neuroradiologic marker for iNPH. However, the relationship of the CA to clinical features has not been well investigated.

The effects of cerebrospinal fluid tap-test on idiopathic normal pressure hydrocephalus: an inertial sensors based assessment.

Background: Gait disturbances are typical of persons with idiopathic normal pressure hydrocephalus (iNPH) without signs distinctive from other neurodegenerative and vascular conditions. Cerebrospinal fluid tap-test (CSF-TT) is expected to improve the motor performance of iNPH patients and is a prognostic indicator in their surgical management. This observational prospective study aims to determine which spatio-temporal gait parameter(s), measured during instrumented motor tests, and clinical scale(s) may provide a relevant contribution in the evaluation of motor performance pre vs.

Color Choice Preference in Cognitively Impaired Patients: A Look Inside Alzheimer's Disease Through the Use of Lüscher Color Diagnostic.

Objective: To study the emotional state of cognitively impaired patients through the color choice preference in a group of Alzheimer's disease (AD) patients and compare it with a group of Mild Cognitive Impairment (MCI) patients and a matched control group.

Methods: A total of 71 AD, 50 MCI and 68 controls were consecutively evaluated. All patients and controls underwent the Mini Mental State Evaluation (MMSE) and the Lüscher color test.

A prospective evaluation of clinical and instrumental features before and after ventriculo-peritoneal shunt in patients with idiopathic Normal pressure hydrocephalus: The Bologna PRO-Hydro study.

Introduction: Idiopathic Normal Pressure Hydrocephalus (iNPH) is a complex and often misdiagnosed syndrome, whose major challenge is to identify which patients will benefit from surgery. Previous studies reported a variability in positive surgery response. The role of tap test(TT) in screening patients suitable for shunting is controversial.

The intellectual profile of children with autism spectrum disorders may be underestimated: A comparison between two different batteries in an Italian sample.

Intelligence measures are typically used in the assessment of children with autism spectrum disorders (ASD), but there is a paucity of research on the implications of such testing. In the present study, we examined children with ASD using two of the most largely adopted instruments, i.e.

Predicting conversion from mild cognitive impairment to Alzheimer's disease using brain H-MRS and volumetric changes: A two- year retrospective follow-up study.

This study investigated the ability of magnetic resonance spectroscopy (H-MRS) of posterior cingulate cortex (PCC) and brain volumetry to predict the progression from mild cognitive impairment (MCI) to Alzheimer's Disease (AD) on the basis of clinical classification at 2 years follow-up. Thirty-eight MCI patients, eighteen healthy older adults and twenty-three AD patients were included in this study. All participants underwent a brain-MR protocol (1.

Effects on cognition of 20-day anodal transcranial direct current stimulation over the left dorsolateral prefrontal cortex in patients affected by mild cognitive impairment: a case-control study.

Background: Mild cognitive impairment (MCI) is a common disorder affecting as much as 15% of the elderly population. Transcranial direct current stimulation (tDCS) is a non-invasive technique of neuromodulation that has proven to influence performance in different cognitive domains.

Objective/hypothesis: We investigated the effects on cognition of 20-day anodal tDCS in 17 MCI patients compared with 17 matched MCI patients.

Revisiting the Cerebrospinal Fluid Biomarker Profile in Idiopathic Normal Pressure Hydrocephalus: The Bologna Pro-Hydro Study.

Cerebrospinal fluid (CSF) biomarkers have been extensively investigated in idiopathic normal pressure hydrocephalus (iNPH) with the aim of a better differential diagnosis, but the pathophysiological mechanisms underlying CSF biomarker changes and the relationship between biomarker levels and clinical variables are still a matter of debate. We evaluated CSF amyloid-β (Aβ)42 and Aβ40, total (t)-tau, phosphorylated (p)-tau, total prion protein (t-PrP), and neurofilament light chain protein (NfL) in healthy controls (n = 50) and subjects with iNPH (n = 71), Alzheimer's disease (AD) (n = 60), and several other subtypes of dementia (n = 145). Patients with iNPH showed significantly lower levels of Aβ42, Aβ40, t-tau, and p-tau compared to controls.

Cerebrospinal Fluid Biomarkers in Patients with Frontotemporal Dementia Spectrum: A Single-Center Study.

Cerebrospinal fluid (CSF) neurofilament light chain protein (NfL) and Alzheimer's disease (AD) core biomarker levels have been evaluated in cohorts of patients with frontotemporal dementia spectrum (FTD), but the distribution of values across the different clinical syndromes and underlying proteinopathies, and the relative diagnostic accuracy appear discordant among studies. We measured CSF NfL, total (t)-tau, phosphorylated (p)-tau, and amyloid-β (Aβ)42 in healthy controls (n = 38) and subjects with a clinical, genetic, CSF biomarker-based, and/or neuropathological diagnosis of FTD (n = 141) or AD (n = 60). Sub-analyses were conducted in a proportion of subjects with definite and/or probable frontotemporal lobar degeneration with tau (FTLD-TAU) (n = 42) or TDP43 pathology (FTLD-TDP) (n = 36).

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance.

Background: In 1969, Dazzi and Finizio reported the second observation of frontotemporal dementia (FTD) - amyotrophic lateral sclerosis (ALS) association in a large Italian kindred affected by an autosomal dominant form of ALS with high penetrance, frequent bulbar onset, and frequent cognitive decline.

Objective: To expand the original characterization of this family and report the link with the C9orf72 repeat expansion (RE).

Methods: We followed or reviewed the medical records of thirteen patients belonging to the original family and performed genetic analyses in four individuals.

Human figure drawing distinguishes Alzheimer's patients: a cognitive screening test study.

To study human figure drawing in a group of Alzheimer's disease (AD) patients and compare it with a group of patients with mild cognitive impairment (MCI) and controls. We evaluated consecutive outpatients over a one-year period. Patients were classified as affected by AD or by MCI.

Mitochondrial dysfunction in myotonic dystrophy type 1.

The pathophysiological mechanism linking the nucleotide expansion in the DMPK gene to the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear. In vitro studies demonstrate DMPK involvement in the redox homeostasis of cells and the mitochondrial dysfunction in DM1, but in vivo investigations of oxidative metabolism in skeletal muscle have provided ambiguous results and have never been performed in the brain. Twenty-five DM1 patients (14M, 39 ± 11years) underwent brain proton MR spectroscopy (H-MRS), and sixteen cases (9M, 40 ± 13 years old) also calf muscle phosphorus MRS (P-MRS).

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

The C9orf72 repeat expansion (RE) is one of the most frequent causative mutations of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, it is still unclear how the C9orf72 RE can lead to a heterogeneous phenotype. Several reports have shown the coexistence of mutations in multiple ALS/FTD causative genes in the same family, suggesting an oligogenic etiology for ALS and FTD.

Precuneal Thickness and Depression in Parkinson Disease.

Background: Depression-related gray matter changes in Parkinson disease (PD) patients have been reported, although studies investigating cortical thickness in early-stage disease are lacking.

Objective: We aimed to evaluate cortical changes related to depression in early-stage PD patients with an extensive neuropsychological evaluation.

Methods: 17 PD patients and 22 healthy controls underwent a 1.

Superficial siderosis associated with peripheral autonomic failure and tetraventricular hydrocephalus: a case report.

We describe the case of a man whose initial clinical presentation included sensorineural hearing loss and orthostatic hypotension. The patient was diagnosed with superficial siderosis associated with peripheral autonomic failure and tetraventricular hydrocephalus.

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.

Background: Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. We aimed to evaluate in the brain of adult patients with DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume and cortical thickness and (ii) their correlation with clinical disability, global neuropsychological performance and triplet expansion.

Methods: We included 24 adult genetically-confirmed DM1 patients (14 males; age: 38.

The Tree-Drawing Test (Koch's Baum Test): A Useful Aid to Diagnose Cognitive Impairment.

Objective: To study the Tree-Drawing Test in a group of demented patients and compare it with a group of mild cognitively impaired patients (MCI) and controls.

Methods: Consecutive outpatients were classified as affected by dementia (Alzheimer's disease (AD), frontotemporal dementia (FTD), and vascular dementia (VD)) or by MCI. Patients and controls underwent the Tree-Drawing Test and MMSE.

Cognitive and sleep features of multiple system atrophy: review and prospective study.

Background: The profile and degree of cognitive impairment in Multiple System Atrophy (MSA) and the impact of sleep disorders, REM sleep behavior disorder (RBD) in particular, in parkinsonism-related cognitive deficits are currently being debated.

Summary: We reviewed the cognitive, affective and sleep findings in MSA and also carried out a longitudinal investigation of 10 MSA patients. At the first evaluation, 3 patients showed isolated cognitive deficits.

Simple verbal analogies test: normative data on a short task exploring abstract thinking.

Background And Aims: The simple verbal analogies test (SVAT) is a short neuropsychological task requiring few minutes of administration that explores inductive verbal abstract thinking. It already showed a good specificity and sensitivity in discriminating normal controls from probable Alzheimer's disease patients. Verbal working memory, semantic knowledge and memory and word-finding ability are also involved in performing analogies.