Aldo Quattrone

Catanzaro Neuroscience research center

Clinical differentiation of progressive supranuclear palsy (PSP) from Parkinson’s disease (PD) is challenging due to overlapping phenotypes and the late onset of specific atypical signs. Therefore, easily assessable diagnostic biomarkers are highly needed. Since PD is a synucleopathy while PSP is a tauopathy, here, we investigated the clinical usef...

Progressive supranuclear palsy (PSP) is a severe neurodegenerative disease pathologically characterized by intracellular tangles of hyperphosphorylated tau protein, widely distributed across the neocortex, basal ganglia, and midbrain. Developing effective drugs for PSP presents challenges due to its complex underpinning mechanism and the absence of...

Introduction Distinguishing tremor-dominant Parkinson's disease (tPD) from essential tremor with rest tremor (rET) can be challenging and often requires dopamine imaging. This study aimed to differentiate between these two diseases through a machine learning (ML) approach based on rest tremor (RT) electrophysiological features and structural MRI da...

Previous literature showed a complex interpretation of recall tasks due to the complex relationship between Executive Functions (EF) and Long Term Memory (M). The Test of Memory Strategies (TMS) could be useful for assessing this issue, because it evaluates EF and M simultaneously. This study aims to explore the validity of the TMS structure, compa...

Objective To investigate the performance of structural MRI cortical and subcortical morphometric data combined with blink-reflex recovery cycle (BRrc) values using machine learning (ML) models in distinguishing between essential tremor (ET) with resting tremor (rET) and classic ET. Methods We enrolled 47 ET, 43 rET patients and 45 healthy controls...

Alzheimer’s disease (AD) exhibits sex-linked variations, with women having a higher prevalence, and little is known about the sexual dimorphism in progressing from Mild Cognitive Impairment (MCI) to AD. The main aim of our study was to shed light on the sex-specific conversion-to-AD risk factors using Random Survival Forests (RSF), a Machine Learni...

Most patients with idiopathic REM sleep behavior disorder (iRBD) present peculiar repetitive leg jerks during sleep in their clinical spectrum, called periodic leg movements (PLMS). The clinical differentiation of iRBD patients with and without PLMS is challenging, without polysomnographic confirmation. The aim of this study is to develop a new Mac...

Background Postural instability (PI) is a common disabling symptom in Parkinson’s disease (PD), but little is known on its pathophysiological basis. Objective In this study, we aimed to identify the brain structures associated with PI in PD patients, using different MRI approaches. Methods We consecutively enrolled 142 PD patients and 45 control...

Prediction of conversion from Mild Cognitive Impairment (MCI) to Alzheimer’s disease (AD) is usually performed with Machine Learning (ML) supervised approaches. However, typical ML classifiers are not able to provide information on time and risk to AD conversion. Survival Analysis statistical methods as Cox Proportional Hazard (CPH) give this infor...

Rest tremor (RT) is observed in subjects with Parkinson’s disease (PD) and Essential Tremor (ET). Electromyography (EMG) studies have shown that PD subjects exhibit alternating contractions of antagonistic muscles involved in tremors, while the contraction pattern of antagonistic muscles is synchronous in ET subjects. Therefore, the RT pattern can...

Background Sleep abnormalities have been reported in Charcot–Marie–Tooth disease (CMT), but data are scanty. We investigated their presence and correlation in a large CMT patients’ series. Methods Epworth Sleepiness Scale (ESS) and Pittsburgh Sleep Quality Index (PSQI) were administered to CMT patients of the Italian registry and controls. ESS sco...

Background: Differentiating Progressive supranuclear palsy-Richardson's syndrome (PSP-RS) from PSP-Parkinsonism (PSP-P) may be extremely challenging. In this study, we aimed to distinguish these two PSP phenotypes using MRI structural data. Methods: Sixty-two PSP-RS, 40 PSP-P patients and 33 control subjects were enrolled. All patients underwent...

Objective: We aimed to identify the brain structures associated with postural instability (PI) in Progressive Supranuclear Palsy (PSP). Methods: Forty-seven PSP patients and 45 control subjects were enrolled in this study. PI was assessed using the items 27 and 28 of the PSP rating scale (postural instability score, PIS). PSP patients were compa...

Background: Previous literature has shown that executive functions (EF) are related to performance in memory (M) tasks. The Test of Memory strategies (TMS) is a psychometric test that examines EF and M simultaneously and it was recently validated on an Italian healthy cohort. The first aim of the study was to apply TMS, for the first time, on a sa...

Background: We report data from the Italian CMT Registry. Methods: The Italian CMT Registry is a dual registry where the patient registers, chooses a reference centre, where the attending clinician collects a minimal dataset of information and administers the CMT Examination/Neuropathy Score. Entered data are encrypted. Results: Overall, 1012...

Introduction There is some debate on the relationship between essential tremor with rest tremor (rET) and the classic ET syndrome, and only few MRI studies compared ET and rET patients. This study aimed to explore structural cortical differences between ET and rET, to improve the knowledge of these tremor syndromes. Methods Thirty-three ET patient...

Recently, a novel pathogenic variant in Annexin A1 protein (c.4G > A, p.Ala2Thr) has been identified in an Iranian consanguineous family with autosomal recessive parkinsonism. The deficiencies of ANXA1 could lead to extracellular SNCA accumulation, defects in intracellular signaling pathways and synaptic plasticity causing parkinsonism. The aim of...

We investigated the evolution of SARS-CoV-2 spread in Calabria, Southern Italy, in 2022. A total of 272 RNA isolates from nasopharyngeal swabs of individuals infected with SARS-CoV-2 were sequenced by whole genome sequencing (N = 172) and/or Sanger sequencing (N = 100). Analysis of diffusion of Omicron variants in Calabria revealed the prevalence o...

Background and purpose: Growing evidence suggests that Machine Learning (ML) models can assist the diagnosis of neurological disorders. However, little is known about the potential application of ML in diagnosing idiopathic REM sleep behavior disorder (iRBD), a parasomnia characterized by a high risk of phenoconversion to synucleinopathies. This st...

Background and purpose: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated. Methods: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group....

Background and aimsThis paper aimed to investigate the usefulness of applying machine learning on resting-state fMRI connectivity data to recognize the pattern of functional changes in essential tremor (ET), a disease characterized by slight brain abnormalities, often difficult to detect using univariate analysis.Methods We trained a support vector...

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...

Background Many studies separately described volumetric and metabolic brain changes in Huntington disease (HD). No analysis has been so far performed on juvenile-onset HD (JOHD) by using hybrid instruments combining both brain morphometry and glucose uptake. Aim To evaluate longitudinal brain volumetric and metabolic changes in patients with JOHD....

Background Albeit changes in brain structure and metabolism have been described in Huntington disease(HD), their mutual relationship in juvenile-onset-HD (JOHD) remains unexplored. Aim To describe how the relationship between brain morphometry and glucose metabolism varies in patients with JOHD overtime. Methods Two JOHD patients underwent longit...

To assess if the severity of nigrostriatal innervation loss affects the functional connectivity (FC) of the sensorimotor cortico-striato-thalamic-cortical loop (CSTCL) in Parkinson’s Disease (PD), Resting-State functional MRI and 18F-DOPA PET data, simultaneously acquired on a hybrid PET/MRI scanner, were retrospectively analyzed in 39 PD and 16 es...

Limitations in the accuracy of brain pathways reconstructed by diffusion MRI (dMRI) tractography have received considerable attention. While the technical advances spearheaded by the Human Connectome Project (HCP) led to significant improvements in dMRI data quality, it remains unclear how these data should be analyzed to maximize tractography accu...

Introduction Progressive supranuclear palsy (PSP) and idiopathic normal pressure hydrocephalus (iNPH) share several clinical and radiological features, making the differential diagnosis challenging. In this study, we aimed to differentiate between these two diseases using a machine learning approach based on cortical thickness and volumetric data....

Feature importance is one of the most common explanations provided by Machine Learning (ML). However, different classification algorithms or different training sets could produce different rankings of predictive features. Thus, the quantification of differences between feature importance is crucial for assessing model trustworthiness. Rank-biased O...

In this study, we report on the results of SARS-CoV-2 surveillance performed in an area of Southern Italy for 12 months (from March 2021 to February 2022). To this study, we have sequenced RNA from 609 isolates. We have identified circulating VOCs by Sanger sequencing of the S gene and defined their genotypes by whole-genome NGS sequencing of 157 r...

The clinical differential diagnosis between Parkinson’s disease (PD) and progressive supranuclear palsy (PSP) is often challenging. The description of milder PSP phenotypes strongly resembling PD, such as PSP-Parkinsonism, further increased the diagnostic challenge and the need for reliable neuroimaging biomarkers to enhance the diagnostic certaint...

Background Imaging studies investigating cerebellar gray matter (GM) in essential tremor (ET) showed conflicting results. Moreover, no large study explored the cerebellum in ET patients with resting tremor (rET), a syndrome showing enhanced blink reflex recovery cycle (BRrc). Objective To investigate cerebellar GM in ET and rET patients using voxe...

This study aimed to investigate the structural covariance between the striatum and large-scale brain regions in patients with vascular parkinsonism (VP) compared to Parkinson’s disease (PD) and control subjects, and then explore the relationship between brain connectivity and the clinical features of our patients. Forty subjects (13 VP, 15 PD, and...

Background Approximatively, 10% of patients initially diagnosed with Parkinson’s disease (PD) show preserved presynaptic dopaminergic function in the nigrostriatal pathway on DAT-SPECT imaging. This syndrome is not compatible with PD diagnosis, and is known as scans without evidence of dopaminergic deficit (SWEDD). Objective To investigate structu...

Scans without evidence of dopaminergic deficit (SWEDD) refers to patients who mimics motor and non-motor symptoms of Parkinson's disease (PD) but showing integrity of dopaminergic system. For this reason, the differential diagnosis between SWEDD and PD patients is often not possible in absence of dopamine imaging. Machine Learning (ML) showed optim...

Background and aims: To explore the cognitive functioning of ET patients without dementia and delineate its imaging counterpart. Methods: We enrolled 99 subjects (49 non-demented ET patients and 50 education-matched healthy controls) that underwent neuropsychological and MRI evaluation. In order to identify the cognitive parameters that better r...

Introduction: Progressive supranuclear palsy (PSP) patients show reduced amplitude and velocity of vertical saccades, but saccadic abnormalities have also been reported in Parkinson's disease (PD). We investigated amplitude and velocity of vertical saccades in PSP and PD, to establish the best video-oculographic (VOG) parameters for PSP diagnosis....

Importance: The accurate diagnosis of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) is hampered by imperfect clinical-pathological correlations. Objective: To assess and compare the diagnostic value of the magnetic resonance parkinsonism index (MRPI) and other magnetic resonance imaging-based measures of cerebral atrop...

Background: Differentiating progressive supranuclear palsy-parkinsonism (PSP-P) from Parkinson's disease (PD) is clinically challenging. Objective: This study aimed to develop an automated Magnetic Resonance Parkinsonism Index 2.0 (MRPI 2.0) algorithm to distinguish PSP-P from PD and to validate its diagnostic performance in two large independen...

Background Idiopathic normal pressure hydrocephalus (iNPH) shares clinical and radiological features with progressive supranuclear palsy (PSP) and Alzheimer’s disease (AD). Corpus callosum (CC) involvement in these disorders is well established on structural MRI and diffusion tensor imaging (DTI), but alterations overlap and lack specificity to und...

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by gene ataxin7 mutation with a polymorphic CAG repeat tract that falls in first axon. The gene which encodes ataxin7 normally contains a ten CAG repeat tract starting a codon 30, in affected patients the CAG repeat tract expands from 37 to 250 triplets,...

Background: Nursing homes have represented important hotspots of viral spread during the initial wave of COVID-19 pandemics. The proximity of patients inside nursing homes allows investigate the dynamics of viral transmission, which may help understand SARS-Cov2 biology and spread. Methods: SARS-CoV-2 viral genomes obtained from 46 patients infect...

Background The R2 component of blink reflex recovery cycle (R2BRrc) is a simple neurophysiological tool to detect the brainstem hyperexcitability commonly occurring in several neurological diseases such as Parkinson’s disease and atypical parkinsonisms. In our study, we investigated for the first time the usefulness of R2BRrc to assess brainstem ex...

Background Rest tremor (RT) can be observed in several positions (seated, standing, lying down) but it is unknown whether the tremor features may vary across them. This study aimed to compare the RT electrophysiological features across different positions in tremor-dominant Parkinson’s disease (PD) and essential tremor plus (ET with RT, rET).Method...

Limitations in the accuracy of brain pathways reconstructed by diffusion MRI (dMRI) tractography have received considerable attention. While the technical advances spearheaded by the Human Connectome Project (HCP) led to significant improvements in dMRI data quality, it remains unclear how these data should be analyzed to maximize tractography accu...

PurposeTo compare depression and anxiety between elite volleyball players (VP) and amateur athletes (AA).Methods Depression and anxiety levels were assessed in 31 elite VP and 26 AA. The International Physical Activity Questionnaire was administered to assess physical activity level (PAL). Beck Depression Inventory II (BDI-II) and State-Trait Anxie...

Exanucleotide expansions in C9orf72 gene have been described as potential risk factor in some patients with Multiple system atrophy (MSA) and other forms of atypical parkinsonism. The goal of our study was to extend the knowledge on the involvement of C9orf72 in MSA studying a cohort of 100 patients from Italy. We identified two heterozygous patien...

Introduction Parkinson's disease (PD), a progressive neurodegenerative disease, can be misdiagnosed with atypical conditions such as Progressive Supranuclear Paralysis (PSP) due to overlapping clinical features. MicroRNAs (miRNAs) are small non-coding RNAs with a key role in post-transcriptional gene regulation. The aim was to identify a set of dif...

Background Microstructural alterations of corticospinal tract (CST) have been found in idiopathic normal pressure hydrocephalus (iNPH). No study, however, investigated the effect of ventricular dilatation on CST in Progressive Supranuclear Palsy (PSP). Objective The aim of this study was to investigate CST diffusion profile in a large cohort of PS...

Objective Structural abnormalities in thalami and basal ganglia, in particular the globus pallidus (GP), are a neuroimaging hallmark of hereditary aceruloplasminemia (HA), yet few functional imaging data exit in HA carriers. This study investigated the iron-related structural and functional abnormalities in an Italian HA family.Methods Multimodal i...

Background Progressive supranuclear palsy (PSP) patients can show ventricular enlargement mimicking normal pressure hydrocephalus (NPH). The aim of this study was to distinguish PSP patients with marked ventricular dilatation (PSP-vd) from those with normal ventricular system and to evaluate the coexistence of NPH in PSP-vd patients.Methods One hun...

Although automatic prediction of Alzheimer’s disease (AD) from Magnetic Resonance Imaging (MRI) showed excellent performance, Machine Learning (ML) algorithms often provide high accuracy at the expense of interpretability of findings. Indeed, building ML models that can be understandable has fundamental importance in clinical context, especially fo...

Introduction: Hyper-religiosity has been reported in patients affected by frontotemporal dementia (FTD) with asymmetrical, predominantly right-sided frontotemporal atrophy. Case report: We report a FTD patient carrying a double genetic variant (p.Cys139Arg and c.*78C > T) in the progranulin (GRN) gene who showed an unusual clinical phenotype charac...

Parkinson’s disease (PD) is the second most common neurodegenerative disorder, affecting 5%of the elderly population. Currently, the diagnosis of PD is mainly based on clinical features and no definitive diagnostic biomarkers have been identified. The discovery of biomarkers at the earliest stages of PD is of extreme interest. This review focuses o...

Visually appreciable white matter (WM) changes have been described in obstructive sleep apnea (OSA). However, few data exist on the involvement of silent WM abnormalities. This prospective study investigated the microstructural integrity of normal‐appearing white matter (NAWM) in male OSA patients before and after continuous positive airway pressur...

Tremor is an impairing symptom associated with several neurological diseases. Some of such diseases are neurodegenerative, and tremor characterization may be of help in differential diagnosis. To date, electromyography (EMG) is the gold standard for the analysis and diagnosis of tremors. In the last decade, however, several studies have been conduc...

Deep grey nuclei of the human brain accumulate minerals both in aging and in several neurodegenerative diseases. Mineral deposition produces a shortening of the transverse relaxation time which causes hypointensity on magnetic resonance (MR) imaging. The physician often has difficulties in determining whether the incidental hypointensity of grey nu...

Importance The presence of atrophy on magnetic resonance imaging can support the diagnosis of the behavioral variant of frontotemporal dementia (bvFTD), but reproducible measurements are lacking. Objective To assess the diagnostic and prognostic utility of 6 visual atrophy scales (VAS) and the Magnetic Resonance Parkinsonism Index (MRPI). Design,...

Cluster analysis is widely applied in the neuropsychological field for exploring patterns in cognitive profiles, but traditional hierarchical and non-hierarchical approaches could be often poorly effective or even inapplicable on certain type of data. Moreover, these traditional approaches need the initial specification of the number of clusters, b...

Background: Glucose alterations are associated with impaired cognition. The 1-h-post-load plasma glucose ≥155 mg/dl in non-diabetic subjects confers an increased risk of cardiovascular events and diabetes. This pilot study aimed to investigate whether the 1-h-post-load plasma glucose ≥155 mg/dl negatively affects the subcortical regions of the brai...

Involuntary tremor at rest is observed in patients with Parkinson’s disease (PD) or essential tremor (ET). Electromyography (EMG) studies have shown that phase displacement between antagonistic muscles at prevalent tremor frequency can accurately differentiate resting tremor in PD from that detected in ET. Currently, phase evaluation is qualitative...

Background Resting-state-fMRI is a technique used to explore the functional brain architecture in term of brain networks and their interactions. However, the robustness of Resting-state-fMRI analysis is negatively affected by physiological noise caused by subject head motion. The aim of our study was to provide new knowledge about the effect of nor...

Progressive supranuclear palsy (PSP) is a rare, rapidly progressive neurodegenerativedisease. Richardson’s syndrome (PSP-RS) and predominant parkinsonism (PSP-P) arecharacterized by wide range of cognitive and behavioural disturbances, but these variantsshow similar cognitive pattern of alterations, leading difficult differential diagnosis. For this...

Progressive supranuclear palsy (PSP) is a rare, rapidly progressive neurodegenerative disease. Richardson’s syndrome (PSP-RS) and predominant parkinsonism (PSP-P) are characterized by wide range of cognitive and behavioural disturbances, but these variants show similar cognitive pattern of alterations, leading difficult differential diagnosis. For...

Background: Enlargement of the third ventricle has been reported in atypical parkinsonism. We investigated whether the measurement of third ventricle width could distinguish Parkinson's disease (PD) from progressive supranuclear palsy (PSP). Methods: We assessed a new MR T1-weighted measurement (third ventricle width/internal skull diameter) in...

Alzheimer's disease (AD), a neurodegenerative disease, is linked to a variety of internal and external factors present from the early stages of the disease. There are several risk factors related to the pathogenesis of AD, among these exosomes and microRNAs (miRNAs) are of particular importance. Exosomes are nanocarriers released from many differen...

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...

Recently, the LRP10 gene has been associated with Parkinson’s disease (PD), Parkinson’s disease with dementia (PDD), and dementia with Lewy bodies (DLB). The aim of the present study was to evaluate the presence of mutations of the LRP10 gene in patients with PD or DLB from Southern Italy. Sequencing analysis revealed only 2 missense and 3 synonymo...

Aim: The aim of this study was to evaluate the corticospinal tract (CST) diffusion profile in pure lower motor neuron disease (pLMND) patients who at baseline did not show any clinical or electrophysiological involvement of upper motor neurons (UMN), and in amyotrophic lateral sclerosis (ALS) patients. Materials and methods: Fifteen ALS patients...

Objective Accurate diagnosis is particularly challenging in Parkinson's disease (PD), multiple system atrophy (MSAp), and progressive supranuclear palsy (PSP). We compare the utility of 3 promising biomarkers to differentiate disease state and explain disease severity in parkinsonism: the Automated Imaging Differentiation in Parkinsonism (AID‐P), t...

Background Idiopathic normal pressure hydrocephalus and PSP share several clinical and radiological features, making differential diagnosis, at times, challenging. Objectives To differentiate idiopathic normal pressure hydrocephalus from PSP using MR volumetric and linear measurements. Methods Twenty‐seven idiopathic normal pressure hydrocephalus...

DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with PSP. Our genetic screening of DCTN1 in 79 patients with PSP, 100 patients with MSA and 28 pat...

Background: The Magnetic Resonance Parkinsonism Index is listed as one of the most reliable imaging morphometric markers for diagnosis of progressive supranuclear palsy (PSP). However, the use of this index in diagnostic workup has been limited until now by the low generalizability of published results because of small monocentric patient cohorts,...

Introduction: We investigated the disease progression rate in patients with progressive supranuclear palsy-Richardson syndrome (PSP-RS) and PSP-parkinsonism (PSP-P) in comparison with Parkinson disease (PD) patients, using MRPI (Magnetic Resonance Parkinsonism Index), and MRPI 2.0. Methods: Fifteen PSP-RS patients (disease duration, y, mean ± SD...

Introduction: There is growing evidence that a proportion of patients with Essential Tremor (ET) may develop a memory impairment over time. However, no studies have evaluated whether hippocampal damage really occur in ET. This study investigated the macro and micro-structural integrity of the hippocampus in ET subjects using a multimodal MRI appro...