A5046272655- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Dementia and Cognitive Impairment Research
- Neurological diseases and metabolism
- Prion Diseases and Protein Misfolding
- Cholinesterase and Neurodegenerative Diseases
- Cerebrovascular and genetic disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurological Disorders and Treatments
- Epigenetics and DNA Methylation
- Bioinformatics and Genomic Networks
- Intracerebral and Subarachnoid Hemorrhage Research
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Genomics and Rare Diseases
- Genetics, Aging, and Longevity in Model Organisms
- Neurogenetic and Muscular Disorders Research
- Advanced biosensing and bioanalysis techniques
- S100 Proteins and Annexins
- Phosphodiesterase function and regulation
- Adrenal Hormones and Disorders
- Trace Elements in Health
- Anesthesia and Neurotoxicity Research
- Diet and metabolism studies
- Genetic Neurodegenerative Diseases
BioAge (Italy)
2013-2022
National Hospital for Neurology and Neurosurgery
2020
University College London
2018-2020
University of California, San Francisco
2017-2018
Texas Tech University Health Sciences Center
2007-2018
Texas Tech University
2007-2018
University Memory and Aging Center
2018
Washington University in St. Louis
2018
University of Reading
2018
University of California System
2017
Neuropsychiatric or behavioral and psychological symptoms of dementia (BPSD) represent a heterogeneous group non-cognitive that are virtually present in all patients during the course their disease. The aim this study is to examine prevalence natural history BPSD large cohort with variant frontotemporal (bvFTD) Alzheimer's disease (AD) three stages: (i) pre-T0 (before onset disease); (ii) T0 manifested (from 5 years); (iii) T1 advanced years onwards). Six hundred seventy-four clinical...
Background: Behavioral and psychological symptoms of dementia (BPSD) have a large impact on the quality life patients with Alzheimer’s disease (AD). Few studies compared BPSD between early-onset (EOAD) late-onset (LOAD) patients, finding conflicting results. Objective: The aims this study were to: 1) characterize presence, overall prevalence, time occurrence in EOAD versus LOAD; 2) estimate prevalence over severity each LOAD three stages: pre-T0 (before onset disease), T0 (from to 5 years),...
<b>Background: </b> Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations the progranulin gene (<i>GRN</i>). <b>Objective: To determine frequency of <i>GRN</i> a cohort Caucasian patients with FTD without known genes. <b>Methods: </b><i>GRN</i> sequenced series 78 independent including 23 familial subjects. A different Calabrian dataset (109 normal control subjects and 96 patients) used to establish mutation. <b>Results: novel mutation...
Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descending from remote common ancestor. Recently, several other EOFAD same have been described worldwide.We searched founder in different geographic origins by genealogic and molecular analyses. We also investigated...
To report, for the first time, a large autosomal dominant Alzheimer disease (AD) family in which APP A713T mutation is present homozygous and heterozygous state. date, has been reported as dominant, state associated with familial AD cerebrovascular lesions.The described here genealogically reconstructed over 6 generations dating back to 19th century. Plasma β-amyloid peptide was measured. Sequencing of causative genes performed.Twenty-one individuals, all but 1 born from 2 consanguineous...
Corticosteroid-binding globulin (CBG) is the binding protein for cortisol. Rare kindreds with CBG mutations reducing levels or altering affinity have been described, along clinical manifestations encompassing fatigue, chronic pain, and hypotension. The largest kindred, exhibiting two (null Lyon) were Australian immigrants from Italy.Our objective was to determine prevalence of null/Lyon in village where original family emigrated compare subjects without mutations, previous knowledge their...
Several neurological and systemic diseases can cause dementia, beyond Alzheimer's disease. Rare genetic causes are often responsible for dementia with atypical features. Recently, mutations causative Niemann-Pick type C disease (NPC) have also been implicated in neurodegenerative diseases. NPC is an autosomal recessive lipid storage disorder caused by NPC1 NPC2 genes. In adults, clinical presentation mimicking other makes diagnosis difficult. Recent evidence suggests that heterozygous genes...
Mutations in the amyloid-beta protein precursor (AbetaPP) gene can cause autosomal dominant early-onset Alzheimer's disease, or disease (AD) associated with cerebral amyloid angiopathy (CAA), hemorrhage, both. We have previously reported that AbetaPP A713T mutation is AD and subcortical ischemic lesions at magnetic resonance imaging a large family which neuropathology confirmed CAA, stroke, lesions. The objective of this clinical molecular study was to investigate mutations 59 patients...
Uncoupling proteins (UCPs) are a group of five mitochondrial inner membrane transporters with tissue specific expression that uncouple biofuel oxidation from ATP synthesis and function as regulators energy homeostasis antioxidants. Previous data suggested neuronal UCPs (UCP2, UCP4, an d UCP5) can directly influence synaptic plasticity, neurotransmission, neurodegenerative processes, have crucial role in the protection central nervous system. In fact, it has been observed significantly...
Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in VCP gene. However, have also been documented patients amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth type 2 (CMT2) disease, and hereditary spastic paraplegia (HSP), underlining the heterogeneity phenotypes mutations. In this study, we reported a novel missense heterozygous variant c.1184A > C...
We report a novel presenilin1 (PSEN1) gene mutation (I143 V) in four-generation family with Alzheimer's disease. Clinical, molecular, and neuropathological examinations were performed on index patient; thirteen affected subjects also identifie
Delirium is a multifactorial geriatric syndrome and often occurs in patients with cognitive impairment. It also remains under-recognized, specifically elderly outpatients, because signs of delirium might overlap symptoms dementia.The aim the present study to retrospectively apply chart-based instrument on cohort outpatients dementia, assess prevalence features this population.We randomly selected 650 medical records referred "Neurogenetic Regional Centre" (CRN) Lamezia Terme. Each evaluation...
Background: Most of clinical guidelines recommend discontinuing treatment with cholinesterase inhibitors (ChEIs) in patients Alzheimer’s disease (AD) who do not show an initial response to therapy as evaluated the Mini-Mental State Examination (MMSE) scale. However, understanding relationship between ChEI and subsequent course is extremely important practice, but evidence limited, particularly old-old population. Objective: We aimed at investigating short-term long-term old age subjects AD a...
The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case primary progressive nonfluent aphasia variable penetrance. Herein, we report finding variation in sporadic early onset frontotemporal dementia patient and several members her family. was only proband which also homozygous for A allele progranulin single-nucleotide polymorphism rs9897526 methionine at codon 129 prion gene. could be considered either an incomplete penetrant or rare...
We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with PSEN1 M146L mutation a large familial Alzheimer's disease Calabrian kindred, wide variability onset not attributable to
Background: Progranulin protein (PGRN) is a cysteine-rich growth factor encoded by the progranulin gene (GRN). PGRN mutations were identified in patients with frontotemporal lobar degeneration (FTLD) and recently its role as risk has been desc
Prion protein (PRNP) gene mutations have recently been associated with clinical pictures resembling Frontotemporal dementia (FTD). We describe a novel seven extra-repeat insertional mutation in the PRNP family affected by early-onset autosomal dominant FTD previously reported as caused PSEN1 which there was inconsistency between picture and genotype. Both were pathogenic showed variable penetrance when present separately; occurring together, onset very early, within third decade of life....