Daniele Orsucci

Daniele Orsucci
Azienda USL Toscana Nord-Ovest, Italy · San Luca Hospital, Unit of Neurology, Lucca

Doctor of Medicine

About

102
Publications
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2,066
Citations
Citations since 2016
32 Research Items
1283 Citations
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2016201720182019202020212022050100150200250
2016201720182019202020212022050100150200250

Publications

Publications (102)
Article
Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating subtle neurological signs such as mild weakness or sensory deficits. The COVID-19 pandemic has disrupted healthc...
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A mitochondrial stroke-like event is an evolving subacute neurological syndrome linked to seizure activity and focal metabolic brain derangement in a genetically determined mitochondrial disorder. The acronym “MELAS” (mitochondrial encephalopathy associated with lactic acidosis and stroke-like lesions) identifies subjects with molecular, biochemica...
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Introduction Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. Methods Based on the database of the “Nation-wide Italian Collaborative Network of Mitochondrial Diseases”, we reviewed the clinical, genetic, neuroimaging and neurophysiological data of adult patients wit...
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Mitochondrial disorders are a remarkably complex group of diseases caused by impairment of the mitochondrial respiratory chain (or electron transport chain) [...]
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Background TIA and stroke, both ischemic and hemorrhagic, may complicate Fabry disease at young-adult age and be the first manifestation that comes to the clinician’s attention. No definite indications have yet been elaborated to guide neurologists in Fabry disease diagnostics. In current practice, it is usually sought in case of cryptogenic stroke...
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Letter to the Editor in response to Finsterer J, Scorza FA, Scorza CA. Presentation and pathophysiology of neuro-COVID. Drugs Context. 2021;10:2021-6-5. https://doi.org/10.7573/dic.2021-6-5
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Mitochondrial diseases (MDs) are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control (nuclear and mitochondrial DNA) of the mitochondrial proteome. Advances in next-generation sequencing technologies over the past two decades have presente...
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Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs query...
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Early reports from Asia suggested that increased serum levels of the muscular enzyme creatine-(phospho)-kinase (CK/CPK) could be associated with a more severe prognosis in COVID-19. The aim of this single-center retrospective cohort study of 331 consecutive COVID-19 patients who were hospitalized during Italy’s “first wave” was to verify this relat...
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In the last ten years, the knowledge of the genetic basis of mitochondrial diseases has significantly advanced. However, the vast phenotypic variability linked to mitochondrial disorders and the peculiar characteristics of their genetics make mitochondrial disorders a complex group of disorders. Although specific genetic alterations have been assoc...
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We read with attention on your journal the article “Neurological manifestations of neurofibromatosis: a review” by Bayat and Bayat. These authors describe in a clear way the multifaceted nature of type-1 neurofibromatosis (NF1), which includes central nervous system (CNS) tumors, neuropsychological symptoms, cerebrovascular disease, and seizures. A...
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Mitochondrial disorders are a group of neurometabolic and neurodegenerative diseases caused by impairment of the mitochondrial respiratory chain. There is no clear evidence supporting any pharmacological interventions for the majority of mitochondrial disorders, except Leber hereditary optic neuropathy, coenzyme Q10 deficiencies, and mitochondrial...
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Severe acute respiratory syndrome–correlated new coronavirus (SARS-Cov-2) infection may result in neurological signs and symptoms through different mechanisms. Although direct infection of the central nervous system is uncertain or very rare and the para-infectious complications (e.g. inflammatory neuropathies) are rare, delirium and septic encepha...
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Many aspects of epilepsy in mitochondrial disorders (MDs) need to be further clarified. To this aim, we explored retrospectively a cohort of individuals with MDs querying the “Nationwide Italian Collaborative Network of Mitochondrial Diseases” (NICNMD) database (1467 patients included since 2010 to December 2016). We collected information on age at...
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Mitochondrial disorders are a group of metabolic conditions caused by impairment of the oxidative phosphorylation system. There is currently no clear evidence supporting any pharmacological interventions for most mitochondrial disorders, except for coenzyme Q10 deficiencies, Leber hereditary optic neuropathy, and mitochondrial neurogastrointestinal...
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Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia. EA1 and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in EA1, whereas EA2 patients present with interictal nystagmus. Specific pharmacological therapies are available for EA1 and especially EA2. We briefly d...
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Lipomas have often been associated with mtDNA mutations and were mainly observed in patients with mutation in mitochondrial tRNAlysine which is also the most frequent mutation associated with MERRF. Up to date, no systematic studies have been developed in order to assess the incidence of lipomas in large cohorts of mitochondrial patients.The aim of...
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Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this study is to better define the clinical phenotypes associated with ocular myopathy. This is a retrospective study on a large cohort from the database of the "Nation-wide Italian Collaborative Ne...
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Aims: Mitochondrial disease (MD) is a genetic disorder affecting skeletal muscles, with possible myocardial disease. The ergoreflex, sensitive to skeletal muscle work, regulates ventilatory and autonomic responses to exercise. We hypothesized the presence of an increased ergoreflex sensitivity in MD patients, its association with abnormal ventilat...
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The common m.3243A > G mutation of the mitochondrial DNA tRNALeu (UUR) gene is a maternally inherited mutation causing a wide spectrum of neurological and multisystemic disorders, including MELAS, characterized by recurrent cerebral infarction from young age. Vascular pathology in mitochondrial diseases has been described for small vessels, while l...
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In recent years, there has been a surge of interest in mitochondrial diseases, a group of metabolic conditions caused by impairment of the oxidative phosphorylation system. The ubiquitous presence of mitochondria in all the cells of the body, their role as cell powerhouse and their particular genetic characteristics explain the phenotypic complexit...
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MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a rare genetic condition whose differential diagnosis is often posed with juvenile stroke, but more rarely even with inflammatory/infectious encephalitis, causing diagnostic challenges. Here we report the case of a young man harbouring the m.3243A > G MEL...
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While the genetic origin of Fabry disease (FD) is well known, it is still unclear why the disease presents a wide heterogeneity of clinical presentation and progression, even within the same family. Emerging observations reveal that mitochondrial impairment and oxidative stress may be implicated in the pathogenesis of FD. To investigate if specific...
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Introduction: In mitochondrial disorders, a group of genetic diseases associated with decreased energy production and redox imbalance, the pathogenic role of oxidative stress has been pivotal in fostering antioxidant therapy in the attempt to modify the natural history of the conditions.Areas covered: This review focuses on oxidative stress biomark...
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Alzheimer’s disease (AD) is the most common form of dementia in the elderly. This neurodegenerative disorder is clinically characterized by impairment of cognitive functions and changes in behaviour and personality. The pathogenesis of AD is still unclear. Recent evidence supports some role of mitochondria dysfunction and oxidative stress in the de...
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Progressive external ophthalmoplegia (PEO), Kearns-Sayre syndrome (KSS) and Pearson syndrome are the three sporadic clinical syndromes classically associated with single large-scale deletions of mitochondrial DNA (mtDNA). PEO plus is a term frequently utilized in the clinical setting to identify patients with PEO and some degree of multisystem invo...
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Cerebral sinus venous thrombosis (CSVT) is a rare condition representing the 0.5-1% of all stroke cases which can have serious consequences. Early diagnosis and complete screening for acquired or inherited risk factors is crucial for decreasing morbidity and mortality. We have investigated clinical and aetiological factors in an Italian cohort of 4...
Chapter
Mitochondrial diseases are a group of disorders caused by impairment of the mitochondrial respiratory chain. The genetic defect can be located on mitochondrial or nuclear DNA. Phenotypes are polymorphous and may range from pure myopathy to multisystem disorders, with variable age at onset, severity, and progression. Many physicians, including many...
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Gait impairment, balance problems and falls have a negative impact on independence in ADL and quality of life of patients affected by Hereditary Spastic Paraplegia (HSP). Since no pharmacological options are available, treatments rely mostly on rehabilitation therapy, although almost no data on this topic exist. Given the demonstrated effectiveness...
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The acronym “MELAS” (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) denotes patients with histological, biochemical and/or molecular evidence of mitochondrial disease who experience stroke-like episodes. Here we report on a girl with repeated stroke-like episodes and status epilepticus, who was diagnosed with MELAS d...
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Stroke is a complex disease resulting from the interplay of genetics and environment. In some instances (mainly in young adults) stroke is the direct result of a monogenic disease. Among the monogenic causes of stroke, the diseases which are most frequently encountered in the adult general neurological practice are CADASIL, Fabry and mitochondrial...
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Among the hereditary cerebellar ataxias (CAs), there are at least 36 different forms of autosomal dominant cerebellar ataxia (ADCAs), 20 autosomal recessive cerebellar ataxias (ARCAs), two X-linked ataxias, and several forms of ataxia associated with mitochondrial defects. Despite the steady increase in the number of newly discovered CA genes, pati...
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Myocardial involvement has not been extensively investigated in mitochondrial myopathies. The aim of the study was to assess the myocardial morpho-functional changes in patients with chronic progressive external ophthalmoplegia (PEO). Twenty patients with PEO and 20 controls underwent standard echocardiography with tissue Doppler imaging (TDI) and...
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Kennedy disease (spinal and bulbar muscular atrophy, or SBMA) is a motor neuron disease caused by a CAG expansion in the androgen-receptor (AR) gene. Increasing evidence shows that SBMA may have a primary myopathic component and that mitochondrial dysfunction may have some role in the pathogenesis of this disease. In this article, we review the rol...
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Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known. The aims of this study are the evaluation...
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The m.3243A>G "MELAS" (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) mutation is one of the most common point mutations of the mitochondrial DNA, but its phenotypic variability is incompletely understood. The aim of this study was to revise the phenotypic spectrum associated with the mitochondrial m.3243A>G mutation in...
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Objectives: Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare mitochondrial syndrome, mostly caused by the 8344A>G mitochondrial DNA mutation. Most of the previous studies have been based on single case/family reports or series with few patients. The primary aim of this study was the characterization of a large cohort of patients with th...
Article
Mitochondrial diseases are a group of disorders caused by impairment of the mitochondrial respiratory chain. The genetic defect can be located on mitochondrial or nuclear DNA. Phenotypes are polymorphous and may range from pure myopathy to multisystemic disorders, with variable age at onset, severity and progression.The majority of physicians, incl...
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In mitochondrial myopathies with respiratory chain deficiency impairment of energy cell production may lead to in excess reactive oxygen species generation with consequent oxidative stress and cell damage. Aerobic training has been showed to increase muscle performance in patients with mitochondrial myopathies. Aim of this study has been to evaluat...
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The pathogenesis of Alzheimer's disease (AD) is complex, and only a minority of cases appears to be primarily genetic. A relationship between genetic and acquired vascular factors in AD has been hypothesized. Many vascular risk factors for AD, such as atherosclerosis, stroke and cardiac disease in the aging individual, could result in cerebrovascul...
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: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder with multiorgan involvement. FD is caused by a partial or total deficit of α-galactosidase A enzyme, which is responsible for the accumulation of glycosphingolipids in a variety of cell types. Neurological complications include central nervous system involvement with cerebrovascula...
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Tetracyclines are a class of antibiotics which could act as neuroprotective molecules in several neurological disorders, such as Huntington disease, Parkinson disease, stroke and multiple sclerosis. The main biological effects of tetracyclines are the inhibition of microglial activation, the attenuation of apoptosis and the suppression of reactive...
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Capecitabine plus oxaliplatin combination (XELOX) is the first-line treatment in metastatic colorectal cancer. Here we report a case of acute, severe but substantially reversible, neuromuscular and cardiac toxicity following XELOX chemotherapy. Muscle biopsy findings were consistent with a toxic myopathy with necrotizing features and vacuolar chang...
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The pathogenic role of oxidative stress in obstructive sleep apnea syndrome (OSAS) is still a matter of debate, with different studies obtaining contrasting results. The aim of the present study was to evaluate three well-known markers of oxidative stress (advanced oxidation protein products [AOPP], ferric reducing antioxidant power [FRAP], and tot...
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Introduction: Mitochondrial disorders are a group of metabolic conditions caused by impairment of the oxidative phosphorylation system. The treatment of mitochondrial diseases is still inadequate. Therapies that have been attempted include: respiratory chain cofactors, other metabolites secondarily decreased in mitochondrial disorders, antioxidant...
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Mitochondrial dysfunction has been implicated in the pathogenesis of Friedreich Ataxia and other hereditary ataxias. In some cases, mitochondrial DNA primary genetic abnormalities (i.e., myoclonic epilepsy with ragged red fibers syndrome [MERRF}; neuropathy, ataxia and pigmentary retinopathy syndrome [NARP]; Kearns-Sayre syndrome) or secondary mito...
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Mitochondrial disorders are caused by impairment of the respiratory chain. Psychiatric features often represent part of their clinical spectrum. However, the real incidence of psychiatric disorders in these diseases is unknown. The aim of this study was to evaluate psychiatric involvement in a group of patients with mitochondrial disorders and with...
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Aim of this study was to evaluate in patients with progressive external ophthalmoplegia (PEO) the left ventricular function by standard echocardiography and tissue Doppler imaging (TDI) analysis. Twenty patients with PEO (55.4 ± 17.5 years) and 20 age-and sex-matched healthy subjects underwent standard echocardiography with TDI analysis to assess l...
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Paraneoplastic cerebellar degeneration associated with anti-Ri antibodies mainly presents with opsoclonus-myoclonus-ataxia. We report here the case of a patient with anti-Ri-antibody paraneoplastic syndrome, who presented four years after treatment for small-cell lung cancer (SCLC) with oscillopsia and gait disorder. On neurological examination ver...
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Coenzyme Q10 is a small electron carrier of the respiratory chain with antioxidant properties, widely used for the treatment of mitochondrial disorders. Mitochondrial diseases are neuromuscular disorders caused by impairment of the respiratory chain and increased generation of reactive oxygen species. Coenzyme Q10 supplementation is fundamental in...
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Involvement of the peripheral nervous system in mitochondrial disorders (MD) has been previously reported. However, the exact prevalence of peripheral neuropathy and/or myopathy in MD is still unclear. In order to evaluate the prevalence of neuropathy and myopathy in MD, we performed sensory and motor nerve conduction studies (NCS) and concentric n...
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Tetracyclines could have neuroprotective effects in neuromuscular and neurodegenerative disorders. AIMS OF THE STUDY AND METHODS: Objective of this double-blind randomized pilot study (followed by an adjunctive open-label phase) was to evaluate whether tetracycline (500 mg/day × 14 days/month × 3 months) could be useful in patients (n = 16) with pr...