Alma Ghirelli

ORCID: 0000-0001-8440-1036
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About
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Research Areas
  • Amyotrophic Lateral Sclerosis Research
  • Dementia and Cognitive Impairment Research
  • Parkinson's Disease Mechanisms and Treatments
  • Alzheimer's disease research and treatments
  • Functional Brain Connectivity Studies
  • Advanced Neuroimaging Techniques and Applications
  • Neurogenetic and Muscular Disorders Research
  • Genetic Neurodegenerative Diseases
  • Neurological disorders and treatments
  • Cerebrovascular and genetic disorders
  • RNA regulation and disease
  • Neurobiology of Language and Bilingualism
  • Neurological diseases and metabolism
  • Advanced MRI Techniques and Applications
  • Pregnancy and Medication Impact
  • Advanced Glycation End Products research
  • Spatial Neglect and Hemispheric Dysfunction
  • Multiple Sclerosis Research Studies
  • Prion Diseases and Protein Misfolding
  • Genomics and Rare Diseases
  • Intracerebral and Subarachnoid Hemorrhage Research
  • S100 Proteins and Annexins
  • Diet and metabolism studies
  • Cholinesterase and Neurodegenerative Diseases
  • Alcoholism and Thiamine Deficiency

Vita-Salute San Raffaele University
2020-2025

Cognitive Neuroimaging Lab
2023-2025

Istituti di Ricovero e Cura a Carattere Scientifico
2020-2025

Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele
2020-2025

Mayo Clinic
2020-2025

University of Bari Aldo Moro
2021-2023

San Raffaele University of Rome
2021

IRCCS Istituto Auxologico Italiano
2021

Objective To examine associations between tau and amyloid β (Aβ) molecular positron emission tomography (PET) both Alzheimer‐related pathology 4‐repeat in autopsy‐confirmed frontotemporal lobar degeneration (FTLD). Methods Twenty‐four patients had [ 18 F]‐flortaucipir–PET died with FTLD (progressive supranuclear palsy [PSP], n = 10; corticobasal [CBD], FTLD‐TDP, 3; Pick disease, 1). All but 1 Pittsburgh compound B (PiB)‐PET. Braak staging, Aβ plaque neurofibrillary tangle counts,...

10.1002/ana.25893 article EN Annals of Neurology 2020-09-01

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.

10.1007/s00415-024-12338-9 article EN cc-by Journal of Neurology 2024-04-10

Abstract INTRODUCTION Alzheimer's disease (AD) pathology causes corticobasal syndrome (CBS) in 21%–50% of patients. Studies have assessed hypometabolism CBS according to β‐amyloid (A) positron emission tomography (PET), but the understanding association both AD‐tau (T) and A with is incomplete. METHODS Thirty‐three patients 45 controls underwent fluorodeoxyglucose (FDG), flortaucipir, Pittsburgh compound‐B PET were classified as A± T±. FDG‐PET uptake was extracted for 12 regions‐of‐interest...

10.1002/alz.70018 article EN cc-by-nc-nd Alzheimer s & Dementia 2025-03-01

<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...

10.1212/wnl.0000000000012702 article EN cc-by-nc-nd Neurology 2021-09-20

Introduction Neurodegenerative diseases can be considered as 'disconnection syndromes,' in which a communication breakdown prompts cognitive or motor dysfunction. Mathematical models applied to functional resting-state MRI allow for the organization of brain into nodes and edges, interact form connectome.Areas covered The authors discuss recent applications connectomics neurodegenerative diseases, from preclinical diagnosis, follow up along with progressive changes network organization,...

10.1080/14737175.2023.2174016 article EN cc-by-nc-nd Expert Review of Neurotherapeutics 2023-01-02

Abstract INTRODUCTION Considerable advancements have occurred in blood-based Alzheimer’s disease (AD) biomarkers, with automated assays emerging for clinical use. Demonstrating the reliability of these systems is crucial upcoming AD therapies. METHODS This cross-sectional study a Memory Center enrolled 98 patients along continuum or affected by other neurodegenerative disorders, stratified CSF A/T status and syndrome. Plasma pTau-217, pTau-181, Aβ42/Aβ40 were measured using Lumipulse....

10.1101/2024.05.20.24307613 preprint EN medRxiv (Cold Spring Harbor Laboratory) 2024-05-20

Abstract Background Stepwise functional connectivity (SFC) detects whole‐brain couplings of a selected region interest at increasing link‐step topological distances. Objective This study applied SFC to test the hypothesis that stepwise architecture propagating from disease epicenter would shape patterns brain atrophy in patients with progressive supranuclear palsy–Richardson's syndrome (PSP‐RS). Methods Thirty‐six PSP‐RS and 44 age‐matched healthy control subjects underwent magnetic...

10.1002/mds.29887 article EN cc-by-nc-nd Movement Disorders 2024-06-17

Objective Mutations in the TARDBP gene are a rare cause of genetic motor neuron disease (MND). Morphologic MRI characteristics MND patients carrying this mutation have been poorly described. Our objective was to investigate distinctive clinical and features relatively large sample mutations. Methods Eleven were enrolled. with sporadic (sMND) no mutations also selected individually matched by age, sex, presentation severity, along 22 healthy controls. Patients underwent cognitive evaluations,...

10.3389/fneur.2022.931006 article EN cc-by Frontiers in Neurology 2022-07-15

There is currently no validated disease-stage biomarker for amyotrophic lateral sclerosis (ALS). The identification of quantitative and reproducible markers disease stratification in ALS fundamental study design definition inclusion homogenous patient cohorts into clinical trials. Our aim was to assess the rearrangements structural functional brain connectivity underlying stages ALS, suggest objective, measures provided by MRI connectomics mirroring staging.

10.1212/wnl.0000000000207946 article EN cc-by Neurology 2023-12-14

Unconventional magnetic resonance imaging studies of the brainstem have recently acquired a growing interest in amyotrophic lateral sclerosis (ALS) pathology since they provide unique opportunity to evaluate motor tract degeneration and bulbar lower neuron involvement. The aim this study was investigate role structures as accurate biomarkers disease severity predictors survival.A total 60 ALS patients 30 healthy controls subjects (CS) were recruited study. Patients divided two subgroups...

10.1016/j.nicl.2022.103015 article EN cc-by-nc-nd NeuroImage Clinical 2022-01-01

We report the clinical presentation and evolution of a case with novel Progranulin gene (GRN) mutation non-fluent language disturbances at onset. A 60 year-old, white patient was followed due to history disturbances. Eighteen months after onset, underwent FDG positron emission tomography (PET), month 24 hospitalized perform neuropsychological evaluation, brain 3 T MRI, lumbar puncture for cerebrospinal fluid (CSF) analysis, genotyping. At 31, repeated evaluation MRI. onset complained...

10.3389/fnins.2023.1204504 article EN cc-by Frontiers in Neuroscience 2023-06-13

Abstract Background and Objectives Depressive symptoms are frequently reported in patients affected by frontotemporal dementia (FTD). At structural MRI, cortical features of depressed FTD have been poorly described. Our objective was to investigate correlations between measures depression severity patients. Methods Data were obtained from the Frontotemporal Lobar Degeneration Neuroimaging Initiative (FTLDNI) database. We included 98 controls 92 patients, n = 38 behavioral variant (bvFTD), 26...

10.1002/acn3.51860 article EN cc-by Annals of Clinical and Translational Neurology 2023-07-31

Our specific aim was to explore the longitudinal evolution of structural damage subcortical and hippocampal structures in a cohort incident amyotrophic lateral sclerosis (ALS) patients.

10.1212/wnl.0000000000205441 article EN Neurology 2024-04-09

The investigation of in vivo microstructural white (WM) and grey-matter (GM) alterations through diffusion-MRI imaging frontotemporal lobe degeneration (FTLD) patients holds potential better understanding neuropathological changes.

10.1212/wnl.0000000000205587 article EN Neurology 2024-04-09

The ability to predict the pathology spreading in patients with frontotemporal dementia (FTD) is crucial for early diagnosis and targeted interventions. This study examined relationship between network vulnerability longitudinal atrophy progression FTD patients, using Network Diffusion Model (NDM) of spread. Thirty behavioural-variant (bvFTD), 13 semantic-variant primary progressive aphasia (svPPA), 14 nonfluent-variant PPA (nfvPPA) 12 semantic behavioral variant (sbvFTD) underwent...

10.1093/brain/awae391 article EN cc-by Brain 2024-11-29
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