Sara Prioni
A5046215183- Alzheimer's disease research and treatments
- Amyotrophic Lateral Sclerosis Research
- Dementia and Cognitive Impairment Research
- Parkinson's Disease Mechanisms and Treatments
- Advanced Neuroimaging Techniques and Applications
- Functional Brain Connectivity Studies
- Neurological disorders and treatments
- Neurobiology of Language and Bilingualism
- Neurological diseases and metabolism
- Prion Diseases and Protein Misfolding
- Genomics and Rare Diseases
- Cerebrovascular and genetic disorders
- Advanced MRI Techniques and Applications
- Genetics and Neurodevelopmental Disorders
- Neurological Disease Mechanisms and Treatments
- Cholinesterase and Neurodegenerative Diseases
- RNA regulation and disease
- S100 Proteins and Annexins
- Neurogenetic and Muscular Disorders Research
- Cerebral Palsy and Movement Disorders
- Medical and Biological Sciences
- Neuroscience and Neural Engineering
- Lysosomal Storage Disorders Research
- Neurological Disorders and Treatments
- Health Systems, Economic Evaluations, Quality of Life
Fondazione IRCCS Istituto Neurologico Carlo Besta
2015-2025
John Wiley & Sons (United States)
2023-2024
Chicago Neuropsychology Group
2024
Vita-Salute San Raffaele University
2021-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2023
Don Carlo Gnocchi Foundation
2023
University of Antwerp
2022
KU Leuven
2022
IRCCS Istituto Auxologico Italiano
2021
McGill University
2020
Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about third of patients, the disease caused by autosomal dominant genetic mutations usually in one three genes: progranulin (GRN), microtubule-associated protein tau (MAPT), or chromosome 9 open reading frame 72 (C9orf72). Findings from studies other dementias have shown neuroimaging and cognitive changes before symptoms onset, we aimed to identify whether such could be frontotemporal dementia.
Abstract The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct trajectories. Here we introduce machine-learning technique—Subtype Stage Inference (SuStaIn)—able uncover data-driven with temporal progression patterns, from widely available cross-sectional patient studies. Results imaging studies in two reveal subgroups their trajectories regional...
beta-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673-->valine-673 (A673V)] that causes only in the homozygous state, whereas heterozygous carriers were unaffected, consistent a recessive Mendelian trait of inheritance. The A673V affected processing, resulting enhanced beta-amyloid (Abeta) production and formation amyloid fibrils vitro. Co-incubation mutated wild-type peptides conferred...
Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM) atrophy patterns were assessed among 3 common forms FTD (mutations in C9orf72, GRN, MAPT). Participants from the Genetic Initiative (GENFI) cohort suitable volumetric T1 magnetic resonance imaging scan included (319): 144 nonmutation carriers, 128 presymptomatic mutation 47 clinically affected carriers. Cross-sectional GM volume between...
Connections among brain regions allow pathological perturbations to spread from a single source region multiple regions. Patterns of neurodegeneration in diseases, including behavioural variant frontotemporal dementia (bvFTD), resemble the large-scale functional systems, but how bvFTD-related atrophy patterns relate structural network organization remains unknown. Here we investigate whether sporadic and genetic bvFTD are conditioned by connectome architecture. Regional were estimated both...
We used an untargeted mass spectrometric approach, tandem tag proteomics, for the identification of proteomic signatures in genetic frontotemporal dementia (FTD). A total 238 cerebrospinal fluid (CSF) samples from Genetic FTD Initiative were analyzed, including 107 presymptomatic (44 C9orf72 , 38 GRN and 25 MAPT ) 55 symptomatic (27 17 11 mutation carriers as well 76 mutation-negative controls (“noncarriers”). found shared distinct alterations each form FTD. Among proteins significantly...
In progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD), postmortem studies show different topographic involvement of the thalamus, basal ganglia, their cortical connections. Diffusion tensor imaging (DTI) is an MR technique sensitive to gray white matter microstructure integrity. This study was performed determine whether DTI may demonstrate microstructural differences between PSP CBD, particularly within thalamus its connections.Nine patients with probable PSP, 11 7...
The hippocampus is one of the earliest brain regions affected in Alzheimer's disease (AD) and tests hippocampal function have potential to detect AD its stages. Given that critically involved allocentric spatial memory, this study applied a short test 4 Mountains Test (4MT), determine whether performance can differentiate mild cognitive impairment (MCI) patients with without CSF biomarker evidence underlying distinguish MCI dementia when different cultural settings. Healthy controls (HC),...
Genetic frontotemporal dementia is most commonly caused by mutations in the progranulin (GRN), microtubule-associated protein tau (MAPT) and chromosome 9 open reading frame 72 (C9orf72) genes. Previous small studies have reported presence of cerebral white matter hyperintensities (WMH) genetic FTD but this has not been systematically studied across different mutations. In study WMH were assessed 180 participants from Initiative (GENFI) with 3D T1- T2-weighed magnetic resonance images: 43...
Neurotransmitters deficits in Frontotemporal Dementia (FTD) are still poorly understood. Better knowledge of neurotransmitters impairment, especially prodromal disease stages, might tailor symptomatic treatment approaches.
Abstract Background The Genetic Frontotemporal Initiative Staging Group has proposed clinical criteria for the diagnosis of prodromal frontotemporal dementia (FTD), termed mild cognitive and/or behavioral motor impairment (MCBMI). objective study was to validate research MCBMI-FTD in a cohort genetically confirmed FTD cases against healthy controls. Methods A total 398 participants were enrolled, 117 whom carriers an pathogenic variant with symptoms, while 281 non-carrier family members...
Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around third of cases having autosomal dominant inheritance. There wide variability in phenotype even within affected families, raising questions about the determinants progression disease and age at onset. It has been recently demonstrated that cognitive reserve, as measured by years formal schooling, can counteract ongoing pathological process. The TMEM106B genotype also found to be modifier onset frontotemporal...
The presymptomatic phase of neurodegenerative diseases are characterized by structural brain changes without significant clinical features. We set out to investigate the contribution functional network resilience preserved cognition in genetic frontotemporal dementia. studied 172 people from families carrying abnormalities C9orf72, MAPT, or PGRN. Networks were extracted MRI data and assessed using graph theoretical analysis. found that despite loss both volume connections, there is...
Abstract Genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, C9orf72, GRN or MAPT, with presymptomatic carriers from families representing those at risk. While cerebral blood flow shows differences between and other dementia, there is limited evidence its utility stages dementia. This study aimed delineate the signature presymptomatic, genetic using a voxel-based approach. In multicentre GENetic Frontotemporal Initiative (GENFI) study, we investigated...
We investigated whether progranulin plasma levels are predictors of the presence gene (GRN) null mutations or development symptoms in asymptomatic at risk members participating Genetic Frontotemporal Dementia Initiative, including 19 patients, 64 carriers, and 77 noncarriers. In addition, we evaluated a possible role TMEM106B rs1990622 as genetic modifier correlated gray-matter atrophy. Plasma mean ± SD patients carriers were significantly decreased compared with noncarriers (30.5 13.0 27.7...
Cerebral amyloid angiopathy-related inflammation (CAA-ri), a rare form of vasculitis associated with amyloid-β (Aβ) deposition in vessel walls, has been proposed as spontaneous human model the amyloid-related imaging abnormalities (ARIA) occurri
Semantic behavioral variant frontotemporal dementia (sbvFTD) is a neurodegenerative condition presenting with specific and semantic derangements predominant atrophy of the right anterior temporal lobe (ATL). The objective was to evaluate clinical, neuropsychological, neuroimaging, genetic features an Italian sbvFTD cohort, defined according recently proposed guidelines, compared primary progressive aphasia (svPPA) FTD (bvFTD) patients.
<h3>Background and Objectives</h3> To assess cortical, subcortical, cerebellar gray matter (GM) atrophy using MRI in patients with disorders of the frontotemporal lobar degeneration (FTLD) spectrum known genetic mutations. <h3>Methods</h3> Sixty-six carrying FTLD-related mutations were enrolled, including 44 pure motor neuron disease (MND) 22 dementia (FTD). Sixty-one sporadic FTLD (sFTLD) matched for age, sex, severity (gFTLD) also included, as well 52 healthy controls. A whole-brain...
Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for most the inheritance: C9orf72, GRN, and MAPT. Impaired synaptic health common mechanism all variants, so developing fluid biomarkers this process could be useful as readout cellular dysfunction within therapeutic trials. A total 193 cerebrospinal (CSF) samples from GENetic FTD Initiative including 77 presymptomatic (31 23 MAPT) 55 symptomatic (26 17 12 mutation carriers well 61...
Magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy is a safe and effective procedure for drug-resistant tremor in Parkinson's disease (PD).The aim of this study was to demonstrate that MRgFUS ventralis intermedius early-stage tremor-dominant PD may prevent an increase dopaminergic medication 6 months after treatment compared with matched control subjects on standard medical therapy.We prospectively enrolled patients who underwent (PD-FUS) treated oral therapy (PD-ODT) 1:2...
Patients with Parkinson's disease (PD) and GBA gene mutations (GBA-PD) develop nonmotor complications more frequently than noncarriers. However, an objective characterization of both cardiovascular sudomotor autonomic dysfunction using extensive clinical instrumental measures has never been provided so far. Survival is reduced in GBA-PD regardless age dementia, suggesting that other hitherto unrecognized factors are involved.To provide pattern severity explore their correlation non-motor...
Background Heterozygous mutations in the GBA gene, encoding lysosomal enzyme β-glucocerebrosidase (GCase), are most frequent genetic risk factor for Parkinson’s disease (PD). -related PD (GBA-PD) patients have higher of dementia and reduced survival than non-carriers. Preclinical studies one open-label trial humans demonstrated that chaperone ambroxol (ABX) increases GCase levels modulates α-synuclein blood cerebrospinal fluid (CSF). Methods analysis In this multicentre, double-blind,...
Familial cases of Alzheimer's disease (AD) with autosomal dominant transmission and early onset have a prevalence around 1%. Since only small fraction them has monogenic inheritance due to APP, PSEN1 , PSEN2 genes, genetic studies are ongoing unravel the missing heritability. By sequencing panels including multiple dementia-related we identified novel likely pathogenic mutation in SORL1 pedigree five members affected by AD. This loss function may lead reduction receptor, worsening...
Diagnosing the different variants of primary progressive aphasia (PPA) is challenging, but more accurate characterization can improve patient management and treatment outcomes. This study aimed to identify following: (1) which speech features, alone or combined with language assessment gray matter volumes (GMVs), best distinguish PPA (2) how connected evolves in PPA. prospective was conducted at IRCCS San Raffaele Hospital Milan, Italy, between 2010 2021. We included patients who underwent...