Claudia Morelli
A5035957460- Amyotrophic Lateral Sclerosis Research
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- Neurological disorders and treatments
- Alzheimer's disease research and treatments
- Dementia and Cognitive Impairment Research
- Prion Diseases and Protein Misfolding
- Neurological diseases and metabolism
- Stroke Rehabilitation and Recovery
- Genetic Neurodegenerative Diseases
- Intracerebral and Subarachnoid Hemorrhage Research
- EEG and Brain-Computer Interfaces
- Healthcare Decision-Making and Restraints
- Family and Patient Care in Intensive Care Units
- Cerebral Palsy and Movement Disorders
- Cholinesterase and Neurodegenerative Diseases
- Neurological Disorders and Treatments
- Traumatic Brain Injury Research
- Families in Therapy and Culture
- Cardiac pacing and defibrillation studies
- Neurobiology of Language and Bilingualism
- S100 Proteins and Annexins
- Clinical Reasoning and Diagnostic Skills
- Brain Tumor Detection and Classification
- Family Support in Illness
IRCCS Istituto Auxologico Italiano
2014-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2014-2025
University of Milan
2009-2023
University of Bari Aldo Moro
2023
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2021
AOL (United States)
2021
Azienda Socio Sanitaria Territoriale Santi Paolo e Carlo
2021
University of Oxford
2017
University of Florida
2003-2011
University of Rhode Island
1997
Poly(GP) proteins are a promising pharmacodynamic marker for developing and testing therapeutics treating C9ORF72 -associated amyotrophic lateral sclerosis.
To examine neurofilament (Nf) concentrations according to symptom onset and clinical diagnostic certainty categories of amyotrophic lateral sclerosis (ALS).We measured Nf light chain (NfL) phosphorylated heavy (pNfH) CSF NfL serum levels in patients with ALS first ≤6 months (n = 54) or >6 135) from sampling, other neurologic diseases, differential diagnoses a motor neuron disease (MND mimics), MND variants determine the accuracy early onset. Samples were received multicentric analyzed by...
OBJECTIVE: Neurofilaments are leading neurochemical biomarkers for amyotrophic lateral sclerosis (ALS). Here, we investigated the effect of preanalytical factors on neurofilament concentrations in cerebrospinal fluid (CSF) a “reverse” round-robin with 15 centers across Europe/U.S. METHODS: Samples from ALS and control patients (5/5 each center, n = 150) were analyzed phosphorylated heavy chain (pNfH) light (NfL) at two laboratories. RESULTS: CSF pNfH was increased (p < 0.05) 10 out NfL 5 12...
Increasing evidence shows that disease spreading in amyotrophic lateral sclerosis (ALS) follows a preferential pattern with more frequent involvement of contiguous regions from the site symptom onset. The aim our study was to assess if: (i) burden upper (UMN) and lower motor neuron (LMN) influences directionality spreading; (ii) specific patterns progression are associated neuropsychological features different ALS subtypes (classic, bulbar, primary sclerosis, UMN-predominant, progressive...
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that mainly causes degeneration of the upper and lower neurons, ultimately leading to paralysis death within three five years after first symptoms. The pathological mechanisms ALS are still not completely understood. Several biomarker candidates have been proposed in cerebrospinal fluid (CSF). However, none these has successfully translated into clinical routine. Part reason for this failure translate may relate...
Objective To investigate the relationship between serum levels of neuroaxonal degeneration biomarker neurofilament light chain (NFL) and phenotype in ALS. Materials methods Serum NFL (sNFL) concentration was quantified 209 ALS patients 46 neurologically healthy controls (NHCs). Results sNFL clearly increased discriminated them from NHCs with AUC = 0.9694. Among patients, females had higher levels, especially case bulbar onset. more phenotypes both upper (UMN) lower motor neuron (LMN) signs,...
There is increasing clinical, imaging and neurophatological evidence that amyotrophic lateral sclerosis (ALS) represents a multisystem neurodegenerative disease. Neurodegeneration not restricted to motor neurons, but also includes parts of the brain other than cortex, especially prefrontal and/or anterior temporal lobe, contribute clinical syndrome. In some cases an evident dementia resembles frontotemporal degeneration (FTD) was observed. It now suggested ALS FTD are closely related...
Cu/Zn superoxide dismutase (SOD1) reduction prolongs survival in SOD1-transgenic animal models. Pyrimethamine produces dose-dependent SOD1 cell culture systems. A previous phase 1 trial showed pyrimethamine lowers levels leukocytes patients with mutations. This study investigated whether lowered the cerebrospinal fluid (CSF) carrying mutations linked to familial amyotrophic lateral sclerosis (fALS/SOD1).A multicenter (5 sites), open-label, 9-month-duration, dose-ranging was undertaken...
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, 1174). The minor (T) frequency was 0.015. No patients were homozygous (TT), allowing comparison between wild type and heterozygous carriers only. Heterozygous showed faster disease progression (ALSFRS‐R preslope). Findings validated across both cohorts. Multiple linear...
Abstract Objective To compare serum levels of the astrocyte biomarker glial fibrillary acidic protein (GFAP) in patients with amyotrophic lateral sclerosis (ALS) and neurologically healthy controls to analyze relations between GFAP (sGFAP) phenotype ALS. Methods We studied 114 ALS 38 controls. sGFAP was quantified single molecule array (Simoa) technology. Results In both controls, moderately correlated age. had higher compared but this yielded a weak discriminative performance (AUC =...
Background The UNC13A gene is an established susceptibility locus for amyotrophic lateral sclerosis (ALS) and a determinant of shorter survival after disease onset, with up to 33.0 months difference in life expectancy carriers the rs12608932 risk genotype. However, its overall effect on other clinical features ALS phenotypic variability controversial. Methods Genotype data SNP (A–major allele; C–minor allele) was obtained from cohort 972 patients. Demographic variables were collected,...
Biomarker-based differential diagnosis of the most common forms dementia is becoming increasingly important. Machine learning (ML) may be able to address this challenge. The aim study was develop and interpret a ML algorithm capable differentiating Alzheimer's dementia, frontotemporal with Lewy bodies cognitively normal control subjects based on sociodemographic, clinical, magnetic resonance imaging (MRI) variables. 506 from 5 databases were included. MRI images processed FreeSurfer, LPA,...
Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in C9orf72 gene (C9Pos) have been described as presenting distinct features compared to general ALS population (C9Neg). We aim identify phenotypic traits more closely associated with HRE and analyse role of length a modifier factor.We studied cohort 960 patients (101 familial 859 sporadic cases). Motor phenotype was determined using MRC scale, lower motor neuron score (LMNS) Penn upper (PUMNS)....
Increasing evidence shows that approximately half of patients with amyotrophic lateral sclerosis (ALS) display cognitive (ALSci) or behavioural (ALSbi) impairment, both (ALScbi). The aim our study was to assess whether the burden upper and lower motor neuron involvement is associated presence impairment.A single-centre retrospective cohort 110 Italian ALS evaluated correlations between cognitive/behavioural phenotypes. Upper regional measured Penn Motor Neuron Score (PUMNS), whilst signs...
Although oculomotor abnormalities (OMAs) are not usually considered prominent features of amyotrophic lateral sclerosis (ALS), they may represent potential clinical markers neurodegeneration, especially when investigated together with cognitive and behavioral alterations. The aim our study was to identify patterns clinically evident OMAs in patients ALS correlate such findings cognitive-behavioral data.Three consecutive inpatient cohorts Italian controls were retrospectively evaluated assess...
Objective: Levels of chitotriosidase (CHIT1) are increased in the cerebrospinal fluid (CSF) amyotrophic lateral sclerosis (ALS) patients reflecting microglial activation. Here, we determine diagnostic and prognostic potential CHIT1 for early symptomatic ALS. Methods: Overall, 275 from 8 European neurological centers were examined. We included ALS with <6 >6 months symptom onset, other motoneuron diseases (oMND), mimics (DCon) non-neurodegenerative controls (Con). CSF levels analyzed power...