Gessica Vasco
A5011213885- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Cerebral Palsy and Movement Disorders
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Children's Physical and Motor Development
- RNA regulation and disease
- Cardiomyopathy and Myosin Studies
- Hereditary Neurological Disorders
- Muscle activation and electromyography studies
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Balance, Gait, and Falls Prevention
- Genomic variations and chromosomal abnormalities
- Neurological disorders and treatments
- Coenzyme Q10 studies and effects
- RNA Research and Splicing
- Prosthetics and Rehabilitation Robotics
- Parkinson's Disease Mechanisms and Treatments
- Autoimmune Neurological Disorders and Treatments
- Craniofacial Disorders and Treatments
- RNA and protein synthesis mechanisms
- Genetic and Kidney Cyst Diseases
- Cleft Lip and Palate Research
Bambino Gesù Children's Hospital
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2025
Amsterdam University Medical Centers
2021
University of Parma
2021
Emma Kinderziekenhuis
2021
Center for Neurorehabilitation Services
2020
Montreal Children's Hospital
2019
McGill University
2019
University of Toronto
2019
Hospital for Sick Children
2019
<b>Background:</b> Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (α-DG) are a heterogeneous group conditions associated mutations in six genes encoding proven or putative glycosyltransferases. <b>Objectives:</b> The aim the study was to establish prevalence Italian population and spectrum clinical brain MRI findings. <b>Methods:</b> As part multicentric involving all tertiary neuromuscular centers Italy, <i>FKRP</i>, <i>POMT1</i>, <i>POMT2</i>,...
The aim of the study was to assess different outcome measures in a cohort ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months order establish spectrum possible changes relation age and steroid treatment.The is longitudinal multicentric study. A total 106 patients DMD were assessed using 6-minute walk test (6MWT) North Star Ambulatory Assessment (NSAA) at baseline months. Clinical data including treatment collected.During study, we observed mean decline 25.8 meters 6MWT SD...
The aim of the study was to evaluate whether visual analysis muscle magnetic resonance imaging scans can identify specific patterns involvement.We assessed from 83 patients with disorders characterized by rigidity spine secondary mutations in 4 different genes. conditions studied were rigid syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic caused Col6A1, Col6A2, Col6A3 mutations, autosomal dominant form Emery-Dreifuss dystrophy (LMNA defects)...
Objectives The aim of the study was i) to assess spectrum changes over 24 months in ambulant boys affected by Duchenne muscular dystrophy, ii) establish difference between first and second year results iii) identify possible early markers loss ambulation. Methods One hundred thirteen patients (age range 4.1–17, mean 8.2) fulfilled inclusion criteria, 67 113 were on daily 40 intermittent steroids, while 6 not steroids. All assessed using Minute Walk Test (6MWT), North Star Ambulatory...
Ferroptosis is an iron-dependent cell death caused by impaired glutathione metabolism, lipid peroxidation and mitochondrial failure. Emerging evidences report a role for ferroptosis in Friedreich's Ataxia (FRDA), neurodegenerative disease the decreased expression of protein frataxin. Nrf2 signalling implicated many molecular aspects ferroptosis, upstream regulating homeostasis, function metabolism. As down-regulated FRDA, targeting Nrf2-mediated FRDA may be attractive option to counteract...
Primary mitochondrial myopathies (PMMs) encompass a group of genetic disorders that impair oxidative phosphorylation, adversely affecting physical function, exercise capacity, and quality life (QoL). Current PMM standards care address symptoms, with limited clinical impact, constituting significant therapeutic unmet need. We present data from MMPOWER-3, pivotal, phase-3, randomized, double-blind, placebo-controlled trial evaluated the efficacy safety elamipretide in participants genetically...
<h3>Objective:</h3> To test the effect of single nucleotide polymorphism −66 T>G (rs28357094) in osteopontin gene (<i>SPP1</i>) on functional measures over 12 months Duchenne muscular dystrophy (DMD). <h3>Methods:</h3> This study was conducted a cohort ambulatory patients with DMD from network Italian neuromuscular centers, evaluated longitudinally North Star Ambulatory Assessment (NSAA) and 6-Minute Walk Test (6MWT) at entry after months. Genotype rs28357094 determined completion...
Oxidative stress is actively involved in Friedreich's Ataxia (FA), thus pharmacological targeting of the antioxidant machinery may have therapeutic value. Here, we analyzed relevance phase II response mediated by transcription factor Nrf2 on frataxin-deficient cultured motor neurons and fibroblasts patients. The vitro treatment potent activator sulforaphane increased protein levels led to upregulation enzymes. neuroprotective effects were accompanied an increase neurites' number extension....
To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum COQ8A-ataxia in a large worldwide cohort, provide first progression data, including treatment response to Q10 (CoQ10).Cross-modal analysis multicenter cohort 59 COQ8A patients, genotype-phenotype correlations, 3D-protein modeling, vitro mutation analyses, magnetic resonance imaging (MRI) markers, disease progression, CoQ10 data.Fifty-nine patients (39 novel) with 44...
Pitt-Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies. Following the discovery of causative haploinsufficiency transcription factor 4 (TCF4), about 60 patients have been reported. We looked for TCF4 mutations in 63 with a suspected PTHS. Haploinsufficiency was identified 14 patients, consequence large 18q21.2 chromosome deletions involving (2 patients), gene (11 patients) t(14q;18q)...
<h3>Objective</h3> To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic <i>POLR1C</i> pathogenic variants. <h3>Methods</h3> A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical information collected on 23 unreported previously reported patients with POLR3-HLD variants in <i>POLR1C</i>. Brain MRI studies were reviewed. <h3>Results</h3> Fourteen female 9 male...
Mitochondrial ribosomal protein large 24 (MRPL24) is 1 of the 82 components mitochondrial ribosomes, playing an essential role in translation process. We report here on a baby girl with cerebellar atrophy, choreoathetosis limbs and face, intellectual disability combined defect complexes I IV muscle biopsy, caused by homozygous missense mutation identified MRPL24. The variant predicts Leu91Pro substitution at evolutionarily conserved site. Using human mutant cells zebrafish model, we...
The endosomal sorting complex required for transport (ESCRT) machinery is essential membrane remodeling and autophagy it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8 (GenBank: NM_007241.4), encoding the ESCRT-II subunit SNF8. phenotypic included four severe developmental epileptic encephalopathy, massive reduction white...
Friedreich’s ataxia (FRDA) is the most common hereditary autosomal recessive form of ataxia. In this disease there early manifestation gait ataxia, and dysmetria arms legs which causes impairment in daily activities that require fine manual dexterity. To date no cure for disease. Some novel therapeutic approaches are ongoing different steps clinical trial. Development sensitive outcome measures crucial to prove effectiveness. The aim study was assess reliability sensitivity quantitative...
Background Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes currently listed OMIM classification: hereditary sensory autonomic neuropathy type 2 spastic paraplegia 30, both recessively inherited, mental retardation 9 dominant inheritance. Methods In this retrospective multicentre study, we describe clinical, neuroradiological genetic features of 19 Caucasian patients (aged 3–65 years) harbouring...