A5017806075- Mitochondrial Function and Pathology
- Advanced MRI Techniques and Applications
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Advanced Neuroimaging Techniques and Applications
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- ATP Synthase and ATPases Research
- Glioma Diagnosis and Treatment
- Functional Brain Connectivity Studies
- Prion Diseases and Protein Misfolding
- Sleep and Wakefulness Research
- Radiomics and Machine Learning in Medical Imaging
- Glycogen Storage Diseases and Myoclonus
- MRI in cancer diagnosis
- Muscle Physiology and Disorders
- Migraine and Headache Studies
- Endoplasmic Reticulum Stress and Disease
- Dementia and Cognitive Impairment Research
- Intracranial Aneurysms: Treatment and Complications
- Coenzyme Q10 studies and effects
- RNA regulation and disease
- Circadian rhythm and melatonin
- Medical Imaging Techniques and Applications
- Cerebrovascular and Carotid Artery Diseases
University of Bologna
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2025
Istituto delle Scienze Neurologiche di Bologna
2018-2025
Institute of Neurological Sciences
2010-2025
Ospedale Bellaria
2025
Policlinico S.Orsola-Malpighi
2008-2024
Hudson Institute
2021
John Wiley & Sons (United States)
2021
National Research Council
2010
National Academies of Sciences, Engineering, and Medicine
2010
Friedreich ataxia (FRDA), the most common of inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before age 25 progressive gait and limb ataxia, absence deep tendon reflexes, extensor plantar responses, loss position vibration sense in lower limbs. FRDA caused a GAA triplet expansion first intron gene on chromosome 9q13 97% patients. The encodes widely expressed 210-aa protein, frataxin, which located mitochondria severely reduced Frataxin...
We studied in vivo muscle energy metabolism patients with Huntington's disease (HD) and dentatorubropallidoluysian atrophy (DRPLA) using 31P magnetic resonance spectroscopy (MRS). Twelve gene-positive HP (4 presymptomatic patients) 2 gene—positive DRPLA (1 patient) were studied. 31P-MRS at rest showed a reduced phosphocreatine-to-inorganic phosphate ratio the symptomatic HD patient. Muscle adenosine triphosphate/(phosphocreatine + inorganic phosphate) was significantly both groups of...
Decreased mitochondrial respiratory chain function and increased oxidative stress have been implicated in the pathogenesis of Friedreich ataxia (FRDA), raising possibility that energy enhancement antioxidant therapies may be an effective treatment.To evaluate long-term efficacy a combined therapy on bioenergetics clinical course FRDA.Open-labeled pilot trial over 47 months.Patients Seventy-seven patients with genetically defined FRDA. Intervention A coenzyme Q(10) (400 mg/d) vitamin E (2100...
Friedreich's ataxia (FA) is the most common form of autosomal recessive spinocerebellar and often associated with a cardiomyopathy. The disease caused by an expanded intronic GAA repeat, which results in deficiency mitochondrial protein called frataxin. In yeast YFH1 knockout model there evidence that frataxin leads to severe defect respiration, intramitochondrial iron accumulation, production oxygen free radicals. Recently, analysis FA cardiac skeletal muscle samples vivo phosphorus...
Purpose: To retrospectively compare sensitivity and specificity of magnetic resonance (MR) imaging, three-dimensional (3D) MR spectroscopy, combined imaging 3D carbon 11 (11C)-choline positron emission tomography (PET)/computed (CT) for intraprostatic tumor sextant localization, with histologic findings as reference standard. Materials Methods: The local ethics committee on human research provided approval a waiver informed consent the retrospective study. 11C-choline PET/CT results were...
Objective Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer with mitochondrial dysfunction, recent emphasis has focused on dynamics quality control. Mitochondrial mtDNA maintenance is another link recently emerged, implicating mutations in the fusion genes OPA1 MFN2 pathogenesis of multisystem syndromes characterized by neurodegeneration accumulation multiple deletions postmitotic tissues. Here, we report 2 Italian families affected dominant chronic...
Optic neuropathy is common in mitochondrial disorders, but poorly characterized Friedreich's ataxia (FRDA), a recessive condition caused by lack of the protein frataxin. We investigated 26 molecularly confirmed FRDA patients studying both anterior and posterior sections visual pathway using new, integrated approach. This included field testing optical coherence tomography (OCT), pattern evoked potentials (P-VEPs) diffusion-weighted imaging. The latter was used to study optic radiation...
Corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) are two neurodegenerative disorders within the category of tauopathies, which must be considered in differential diagnosis Parkinson's disease. Although specific clinical neuroradiological features help to guide clinician a likely disease, CBD or PSP, remains difficult. The aim our study was analyse apparent diffusion coefficient (ADCave) maps from patients with (corticobasal syndrome, CBS), classical phenotype PSP...
The aim of our study was to investigate the microstructural integrity brain regions functionally involved in tremor loop patients with familial essential (FET), using diffusion tensor imaging (DTI).Twenty-five FET, 15 Parkinson disease (PD), and healthy subjects were studied. DTI performed measure fractional anisotropy (FA) mean diffusivity (MD) various interest: red nucleus, dentate nucleus (DN), cerebellar white matter, middle (MCP) superior peduncle (SCP), ventrolateral thalamus.In FA...
ABSTRACT Background The objective of this study was to use phase imaging evaluate brain iron content in patients with idiopathic restless legs syndrome (RLS). Methods Fifteen RLS and 15 healthy controls were studied using gradient‐echo imaging. Phase analysis performed on localized regions interest selected maps, sensitive paramagnetic tissue. Differences between the 2 subject groups evaluated ANCOVA including age as a covariate. Results Significantly higher values present compared at level...
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations in the gene encoding thymidine phosphorylase, leading to reduced enzymatic activity, toxic nucleoside accumulation, and secondary mitochondrial DNA damage. Thymidine phosphorylase replacement has been achieved allogeneic hematopoietic stem cell transplantation, procedure hampered high mortality. Based on expression liver, 25-year-old severely affected patient underwent liver...
To explore the neuropsychological profile and integrity of olfactory network in patients with COVID-19-related persistent dysfunction (OD).Patients OD underwent assessment Sniffin' Sticks evaluation. Additionally, both a control group brain MRI, including T1-weighted resting-state functional MRI (rs-fMRI) sequences on 3 T scanner. Morphometrical properties were evaluated olfaction-associated regions; rs-fMRI data analysed using graph theory at whole-brain level within standard parcellation...
Abstract Background and aim COVID-19 is associated with neurological complications, termed neuro-COVID, affecting patient outcomes. We aimed to evaluate the association between serum neurofilament light chain (NfL) S100B biomarkers presence of manifestations functional prognosis in patients. Methods A multicenter prospective cohort study was conducted three hospitals Emilia-Romagna region, Italy, from March 2020 April 2022. Hospitalized patients PCR-confirmed were enrolled. Serum NfL levels...
Abstract Dominant optic atrophy has been associated with mutations in the OPA1 gene, which encodes for a dynamin‐related GTPase, mitochondrial protein implicated formation and maintenance of network morphology. We used phosphorus magnetic resonance spectroscopy to assess calf muscle oxidative metabolism six patients from two unrelated families carrying c.2708‐2711delTTAG deletion exon 27 gene. The rate postexercise phosphocreatine resynthesis, measure adenosine triphosphate production rate,...
We investigated 22 patients with migraine without aura, all drug-free and in headache-free periods, by means of 31P-magnetic resonance spectroscopy (MRS) brain muscle. Brain 31P-MRS showed significantly low phosphocreatine, increased adenosine diphosphate, decreased phosphorylation potential. There was a slow rate phosphocreatine recovery after exercise the muscle 12 patients. Energy metabolism is abnormal as previously demonstrated stroke aura.
The early diagnosis of progressive supranuclear palsy (PSP) may be challenging, because clinical overlapping features with Parkinson's disease (PD) and other parkinsonian syndromes such as the Parkinsonian variant multiple system atrophy (MSA-P). Conventional MRI can help in differentiating disorders but its diagnostic accuracy is still unsatisfactory. On basis pathological demonstration superior cerebellar peduncle (SCP) patients PSP, we assessed SCP apparent diffusion coefficient (ADC)...
Early diagnosis is a requirement for future treatment of prion diseases. Magnetic resonance imaging (MRI) with diffusion-weighted images and improved real-time quaking-induced conversion (RT-QuIC) in cerebrospinal fluid (CSF) have emerged as reliable tests.To assess the sensitivity specificity diffusion MRI sporadic Creutzfeldt-Jakob disease (sCJD) new criterion (index test) at least 1 positive brain region among cortex frontal, parietal, temporal, occipital lobes; caudate; putamen;...