A5088282015- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Amyotrophic Lateral Sclerosis Research
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Cholinesterase and Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Cerebrovascular and genetic disorders
- Parkinson's Disease Mechanisms and Treatments
- Neurological Disorders and Treatments
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Trace Elements in Health
- Prenatal Screening and Diagnostics
- Diet and metabolism studies
- Endometrial and Cervical Cancer Treatments
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Vascular Tumors and Angiosarcomas
- DNA Repair Mechanisms
- Genetics, Aging, and Longevity in Model Organisms
- Sex and Gender in Healthcare
- Hereditary Neurological Disorders
- Intracerebral and Subarachnoid Hemorrhage Research
- Carbohydrate Chemistry and Synthesis
BioAge (Italy)
2013-2022
National Institute of Health
2015
University of Turin
2010
University of Florence
2007-2010
Regione del Veneto
2009
National Institute on Aging
2007
Texas Tech University
2007
Texas Tech University Health Sciences Center
2007
NeuroGenetic Pharmaceuticals (United States)
2004
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),...
Spinocerebellar ataxia type 17 is an autosomal dominant cerebellar caused by a CAG repeat expansion in the TATA box-binding protein gene. Ataxia typically first sign whereas behavioral symptoms occur later.To characterize unusual phenotypic expression of large spinocerebellar kindred.Clinical, neuropathological, and molecular genetic characterization 4-generation family with 16 affected patients.Behavioral frontal impairment dominated early stages preceding ataxia, rigidity, dystonic...
<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...
Recent studies have highlighted the significant role of ADAM17/TACE (encoded by ADAM17/TACE) in pathogenesis Alzheimer's disease (AD). Yet, relationship between gene polymorphisms and AD was less studied. This study aims to analyse polymorphism with risk, age onset, neuropsychiatric manifestations, cognitive impairment, medial temporal lobe atrophy sporadic (sAD). case-control association conducted an Italian cohort consisting 297 sAD patients 316 controls. Seven tag-SNPs were selected...
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...
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
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
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....
Background: LRRK2 mutations are common in familial and sporadic Parkinson's disease (PD) cases. Objective: We present a screening of the most frequently mutated exons Calabrian population. Methods: Eighty-eight PD patients diagnosed accor