Lucio Santoro

Lucio Santoro
University of Naples Federico II | UNINA · Department of Neuroscience and Reproductive and Odontostomatological Sciences

MD

About

458
Publications
44,865
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11,168
Citations
Citations since 2016
106 Research Items
5695 Citations
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201620172018201920202021202202004006008001,000
201620172018201920202021202202004006008001,000
Additional affiliations
January 2013 - present
University of Naples Federico II
Position
  • Professor (Full)

Publications

Publications (458)
Article
Background: The role of peripheral phosphorylated-α-Synuclein (p-α-syn) deposition on nerve degeneration in synucleinopathies is still unknown. Objective: To assess the cutaneous neural distribution of p-α-Syn deposits and its correlation with clinical data and with morphology and function of cutaneous sensory and autonomic nerves in early Parki...
Article
Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot‐Marie‐Tooth disease (CMT). We investigated presence of fatigue and its correlations in CMT. We administered the Modified Fatigue Impact Scale (MFIS) to CMT patients adhering to the Italian registry and a control group. MFIS score >38 indicated abnormal f...
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Background Reduction of tandemly arrayed D4Z4 repeats is diagnostic for facioscapulohumeral muscular dystrophy (FSHD). However, various clinical phenotypes have been observed in carriers of this molecular lesion. Currently their natural history is obscure Methods A prospective observational cohort study is conducted to quantify disease progression...
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Background There is little information about neuropsychiatric comorbidities in Charcot-Marie-Tooth disease (CMT). We assessed frequency of anxiety, depression, and general distress in CMT. Methods We administered online the Hospital Anxiety-Depression Scale (HADS) to CMT patients of the Italian registry and controls. HADS-A and HADS-D scores ≥ 11...
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Introduction Cardiovascular autonomic failure and neurogenic orthostatic hypotension (nOH) are common and disabling features of Parkinson’s disease (PD) and multiple system atrophy (MSA). Compared to PD, MSA is considered a primarily central alpha-synucleinopathy. Aim To characterise the relationship between cardiovascular autonomic failure and cu...
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Background Hereditary transthyretin amyloidosis (ATTRv) is a rare, debilitating and fatal disease, mostly characterized by progressive axonal peripheral neuropathy. Diagnosis is still challenging and diagnostic delay in non-endemic area is about 3–4 years. The aim of this study was to arrange a clinical and electrophysiological score to select pati...
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Compression of the median nerve at the carpal tunnel can give demyelinating features and result in distal motor latency (DML) prolongation fulfilling the EFNS/PNS demyelinating criteria for chronic inflammatory demyelinating polyneuropathy (CIDP). Accordingly, being carpal tunnel syndrome (CTS) common in the general population, the EFNS/PNS guideli...
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Objective To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Methods Prospectively collected clinical and EDx data were available in 957 IGOS patients from 115 centers. Only the first EDx study was included in the current analys...
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Background and Objectives Sudomotor impairment has been recognized as a key feature in differentiating Parkinson disease (PD) and multiple system atrophy-parkinsonian type (MSA-P) with the latter been characterized by diffuse anhidrosis in prospective study including patients in late stage of disease. We aimed to evaluate morphological and function...
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Introduction: Electrophysiological diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) may be challenging. Thus, with the aim ofproviding some practical advice in electrophysiological approach to a patient with suspected CIDP, we analyzed electrophysiological data from 499 patients enrolled inthe Italian CIDP Database. M...
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After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin. Since a sensory neuropathy/neuronopathy is identified in all patients with genetical...
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Introduction: In Charcot-Marie-Tooth type 1A (CMT1A) patients, daily life is mainly influenced by mobility and ambulation dysfunctions. The aim of our work was to evaluate the perception of disturbances that mostly impact on daily life in CMT1A patients and its difference on the basis of age, gender, disability, and quality of life. Methods: For...
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Aim Progressive Supranuclear Palsy (PSP) is a progressive neurodegenerative tauopathy characterized by motor, behavioural and cognitive dysfunction. While in the last decade, sensory and autonomic disturbances as well as peripheral nerve involvement are well recognized in Parkinson’s Disease (PD), little is known in this regard for PSP. Herein, we...
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The small GTPase RAB7A regulates late stages of the endocytic pathway and plays specific roles in neurons, controlling neurotrophins trafficking and signaling, neurite outgrowth and neuronal migration. Mutations in the RAB7A gene cause the autosomal dominant Charcot–Marie–Tooth type 2B (CMT2B) disease, an axonal peripheral neuropathy. As several ne...
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Background The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined.Methods An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was me...
Chapter
Neuromuscular diseases may manifest with focal or generalized distribution of reduced strength. Sometimes the diagnosis is delayed because this feature may be due also to a disorder of the central nervous system (see Chap. 10).
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Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. Assessment of size of D4Z4 alleles is commonly used for FSHD diagnosis. However, the extended molecular testin...
Article
Objective: to identify the clinical and diagnostic investigations that may help supporting a diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients not fulfilling the EFNS/PNS electrodiagnostic criteria. Methods: we retrospectively reviewed the data from patients with a clinical diagnosis of CIDP included in a...
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Objective: To collect information on frequency of pregnancy and delivery complications in Charcot-Marie-Tooth (CMT) and on CMT course during pregnancy. Methods: Through an ad hoc online questionnaire, we investigated pregnancy and neuropathy course in CMT women adhering to the Italian CMT Registry. Data were compared to controls (recruited among...
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A few observational studies and randomized trials suggest that exercise and rehabilitation may improve activity limitation and quality of life (QoL) in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but the impact of other modifiable factors on the severity of the disease is not well understood. Using a structured q...
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Objectives To determine the prevalence of different comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and their impact on outcome, treatment choice and response. Methods Using a structured questionnaire, we collected information on comorbidities from 393 patients with CIDP fulfilling the European Federation of Neur...
Article
Diabetic polyneuropathy (DPN) is a common complication to diabetes and is often associated with neuropathic pain. The mechanisms underlying development and maintenance of painful DPN are largely unknown and quantification of intraepidermal nerve fiber density (IENFD) from skin biopsy, one of the neuropathological gold standard when diagnosing DPN,...
Article
Aim Small fibre neuropathy (SFN) diagnosis represents a challenge for neurologists. The diagnostic gold standard is intraepidermal nerve fibre (IENF) density, but in about 10‐20 % of patients with symptoms/signs and abnormalities on functional tests, it remains within normal range. We propose an adjunctive parameter to improve the efficiency of ski...
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Charcot-Marie Tooth type 2B (CMT2B) is a rare inherited peripheral neuropathy caused by five missense mutations in the RAB7A gene, which encodes a small GTPase of the RAB family. Currently, no cure is available for this disease. In this study, we approached the disease by comparing the lipid metabolism of CMT2B-derived fibroblasts to that of health...
Article
Introduction ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to characterise the epidemiology and genotype-phenotype correlation of ATTRv amyloidosis in Italy and to allow a better planning of diagnostic and therapeutic services. Methods Fifteen I...
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Objective The interpretation of electrophysiological findings may lead to misdiagnosis in polyneuropathies. We investigated the electrodiagnostic accuracy of three supervised learning algorithms (SLAs): shrinkage discriminant analysis, multinomial logistic regression, and support vector machine (SVM), and three expert and three trainee neurophysiol...
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An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Introduction: Since February 2020, the outbreak of COVID-19 in Italy has forced the health care system to undergo profound rearrangements in its services and facilities, especially in the worst-hit areas in Northern Italy. In this setting, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of patient...
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Respiratory failure is the most worrisome problem of COVID-19. Patients may develop severe pneumonia requiring invasive mechanical ventilation and a significant proportion of them dies. It has been suggested that brainstem might play a role in severe respiratory failure of COVID-19 patients. We described three COVID-19 patients in ICU at Federico I...
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Here we report biallelic mutations in the sorbitol dehydrogenase gene (SORD) as the most frequent recessive form of hereditary neuropathy. We identified 45 individuals from 38 families across multiple ancestries carrying the nonsense c.757delG (p.Ala253GlnfsTer27) variant in SORD, in either a homozygous or compound heterozygous state. SORD is an en...
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Importance Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups of patients exist among carri...
Article
Background: Disease-modifying pharmacological agents for transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) have become available in the last decade, but evidence on their efficacy and safety is limited. This review focuses on disease-modifying pharmacological treatment for TTR-related and other FAPs, encompassing amyloid kinetic st...
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Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. We exploited t...
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IMPORTANCE Facioscapulohumeral muscular dystrophy (FSHD) is considered an autosomal dominant disorder, associated with the deletion of tandemly arrayed D4Z4 repetitive elements. The extensive use of molecular analysis of the D4Z4 locus for FSHD diagnosis has revealed wide clinical variability, suggesting that subgroups of patients exist among carri...
Article
Objective: To describe morphological changes associated with degeneration and regeneration of large fibers in the skin using a model of chronic compression of the median nerve. Methods: We studied cutaneous innervation in 30 patients with chronic compression of the median nerve at the wrist. Before surgery, we assessed the symptom severity and p...
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Background and aim: Neurodegeneration with brain iron accumulation (NBIA) and Wilson's disease (WD) is considered the prototype of neurodegenerative disorders characterised by the overloading of iron and copper in the central nervous system. Growing evidence has unveiled the involvement of these metals in brain cortical neurotransmission. Aim of t...
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Background and aims: The development of patient-specific induced pluripotent stem cells (iPSCs) offered interesting insights in modeling the pathogenesis of Charcot-Marie-Tooth (CMT) disease and thus we decided to explore the phenotypes of iPSCs derived from a single CMT patient carrying a mutant ATP1A1 allele (p.Pro600Ala). iPSCs clones generated...
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Background: Niemann Pick disease type C (NPC) is a lysosomal lipid storage disorder presenting visceral and neurological impairment with cognitive decline. Neurodegeneration in NPC is associated to deposition of amyloid-β and abnormal tau aggregations likewise Alzheimer disease (AD). Dementia is also related to intracortical circuiting abnormaliti...
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Background: Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but the clinical implications of these signs are not well understood. Objective: To learn more about the natural history of LMNA-related disease. Design: Observational study. Setting: 13 clinical centers in Italy from 2000 t...
Article
Background: The role of lifestyle and dietary habits and antecedent events has not been clearly identified in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods: We collected information about modifiable environmental factors and antecedent infections and vaccinations in patients with CIDP included in an Italian CIDP datab...
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CAPN1 encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine protease widely present in the central nervous system. Mutations in CAPN1 have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP) with a combination of cerebellar ataxia and corticomotor tract disorder (SPG76). Therefore, CAPN1 is...
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Introduction: Peripheral nerve ultrasound alongside standard electrodiagnostic tests may help to gain insight into the pathophysiology of peripheral nerve involvement in type 2 spinocerebellar ataxia (SCA2). Methods: Twenty-seven patients with SCA2 underwent ultrasound cross-sectional area (CSA) measurement of median, ulnar, sural and tibial ner...
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Objective Charcot‐Marie‐Tooth disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with Myotubularin‐related proteins (MTMRs) mutations. We conducted a multicentre retrospective study to...
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Objective The current clinical measures (ONLS, R-ODS, mRS, and MRC) may not be so sensitive in capturing minimal variations or measuring fatigue in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our aim was to assess if 6-min walk test (6MWT) is able to increase the sensitivity in detecting response to therapy and to capture fati...
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EGR2 (Early Growth Response 2) is one of the most important transcription factors involved in myelination in the peripheral nervous system. EGR2 mutations typically cause different forms of demyelinating neuropathy, i.e. Charcot‐Marie‐Tooth type 1D (CMT1D), Dejerine‐Sottas Syndrome (DSS) and Congenital Hypomyelinating Neuropathy (CHN). However, the...
Article
Charcot–Marie–Tooth (CMT) is the most common inherited neuropathy, yet has no available pharmacological therapy. Past pharmacotherapy trials failed to provide positive results, possibly due to a poor choice of outcome measures. We previously performed a study in which we validated the 6-minute walk test and StepWatch™ Activity Monitor in CMT. The a...
Article
We reported a sensory cutaneous denervation more pronounced on the more affected side in Parkinson’s disease (PD)¹. Our aim is to evaluate if autonomic function is also asymmetrically affected. We investigated sudomotor function on both legs of ten patients affected by idiopathic PD by the dynamic sweat test (DST)². After pilocarpine by iontophores...
Article
Progressive Supranuclear Palsy (PSP) is a rare neurodegenerative disease characterized by intraneuronal accumulation of hyperphosphorylated Tau. Because PSP is strongly linked biochemically and genetically to tau protein abnormalities there is a growing interest in new tau-directed therapies and in the search of new biomarkers able to monitor disea...
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Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and e...
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Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure. Early diagnosis is pivo...
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Background Ataluren was approved for the treatment of nmDMD, both the efficacy and safety have been previously reported only from clinical trials but no report exists about real-life experience. Patient/methods we describe three Italian children with nmDMD treated with ataluren for 1 year. Measurements were made every 3 months and was evaluated th...
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Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogeneous genetic conditions. However, over 50% of patients with a genetically inherited disease are still without a diagnosis. In these cases, different hypotheses are usually postulated, including variants in novel genes or elusive mutations. Although th...
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Objectives A few variants of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) have been described, but their frequency and evolution to typical CIDP remain unclear. To determine the frequency and characteristics of the CIDP variants, their possible evolution to typical CIDP, and treatment response. Methods We applied a set of diagn...
Article
Purpose: We studied microRNAs as potential biomarkers for Pompe disease. Methods: We analyzed microRNA expression by small RNA-seq in tissues from the disease murine model at two different ages (3 and 9 months), and in plasma from Pompe patients. Results: In the mouse model we found 211 microRNAs that were differentially expressed in gastrocne...
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Congenital insensitivity to pain is a rare autosomal recessive disorder presenting with a spectrum of clinical features caused by mutations in different genes. A 10‐year‐old girl with congenital insensitivity to pain, hyposmia and hypogeusia, and her unaffected twin and parents underwent next generation sequencing of SCN9A exons and flanking splice...
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Purpose of review: Muscle pain syndromes are extremely frequent cause of chronic disability, and a muscle biopsy is often performed to achieve a diagnosis when myalgia has a myopatic origin. Instead, the role of muscle biopsy in fibromyalgia is controversial. This review examines the reported studies with the objective to evaluate if some changes...