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6 results on '"Giuseppe Pontillo"'

1. Alzheimer's Disease and Small Vessel Disease Differentially Affect White Matter Microstructure

Author

Mario Tranfa, Luigi Lorenzini, Lyduine E. Collij, David Vállez García, Silvia Ingala, Giuseppe Pontillo, Leonard Pieperhoff, Alessio Maranzano, Robin Wolz, Sven Haller, Kaj Blennow, Giovanni Frisoni, Carole H. Sudre, Gael Chételat, Michael Ewers, Pierre Payoux, Adam Waldman, Pablo Martinez‐Lage, Adam J. Schwarz, Craig W. Ritchie, Joanna M. Wardlaw, Juan Domingo Gispert, Arturo Brunetti, Henk J. M. M. Mutsaerts, Alle Meije Wink, and Frederik Barkhof

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objective Alzheimer's disease (AD) and cerebral small vessel disease (cSVD), the two most common causes of dementia, are characterized by white matter (WM) alterations diverging from the physiological changes occurring in healthy aging. Diffusion tensor imaging (DTI) is a valuable tool to quantify WM integrity non‐invasively and identify the determinants of such alterations. Here, we investigated main effects and interactions of AD pathology, APOE‐ε4, cSVD, and cardiovascular risk on spatial patterns of WM alterations in non‐demented older adults. Methods Within the prospective European Prevention of Alzheimer's Dementia study, we selected 606 participants (64.9 ± 7.2 years, 376 females) with baseline cerebrospinal fluid samples of amyloid β1‐42 and p‐Tau181 and MRI scans, including DTI scans. Longitudinal scans (mean follow‐up time = 1.3 ± 0.5 years) were obtained in a subset (n = 223). WM integrity was assessed by extracting fractional anisotropy and mean diffusivity in relevant tracts. To identify the determinants of WM disruption, we performed a multimodel inference to identify the best linear mixed‐effects model for each tract. Results AD pathology, APOE‐ε4, cSVD burden, and cardiovascular risk were all associated with WM integrity within several tracts. While limbic tracts were mainly impacted by AD pathology and APOE‐ε4, commissural, associative, and projection tract integrity was more related to cSVD burden and cardiovascular risk. AD pathology and cSVD did not show any significant interaction effect. Interpretation Our results suggest that AD pathology and cSVD exert independent and spatially different effects on WM microstructure, supporting the role of DTI in disease monitoring and suggesting independent targets for preventive medicine approaches.

Published
2024
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2. Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

Author

Lucia Ruggiero, Aniello Iovino, Raffaele Dubbioso, Sirio Cocozza, Rosanna Trovato, Francesco Aruta, Giuseppe Pontillo, Melissa Barghigiani, Arturo Brunetti, Filippo Maria Santorelli, Fiore Manganelli, and Rosa Iodice

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract We describe an Italian family with adult‐onset pure hereditary spastic paraplegia due to biallelic variants in POLR3A gene [c.1909 + 22G > A and c.3839dupT (p.M1280fs*20]. MRI showed a mild hyperintensity of superior cerebellar peduncles and cervical spinal cord atrophy. The neurophysiological metrics about intracortical excitability showed higher values of motor thresholds and a significant reduction of short interval intracortical inhibition (SICI) in the patient with a more severe phenotype. Our multimodal evaluation further expands the wide phenotypic spectrum associated with mutations in the POLR3A gene. An extensive genotype–phenotype correlation study is necessary to explain the role of the many new mutations on the function of protein.

Published
2020
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3. Neural substrates of verbal memory impairment in schizophrenia: A multimodal connectomics study

Author

Mario Tranfa, Felice Iasevoli, Sirio Cocozza, Mariateresa Ciccarelli, Annarita Barone, Arturo Brunetti, Andrea de Bartolomeis, Giuseppe Pontillo, Tranfa, M., Iasevoli, F., Cocozza, S., Ciccarelli, M., Barone, A., Brunetti, A., de Bartolomeis, A., and Pontillo, G.

Subjects
schizophrenia, Neurology, Radiological and Ultrasound Technology, fMRI, hybrid connICA, dMRI, Radiology, Nuclear Medicine and imaging, TFNBS, Neurology (clinical), verbal memory, Anatomy, cognitive impairment
Abstract

While verbal memory is among the most compromised cognitive domains in schizophrenia (SZ), its neural substrates remain elusive. Here, we explored the structural and functional brain network correlates of verbal memory impairment in SZ. We acquired diffusion and resting-state functional MRI data of 49 SZ patients, classified as having preserved (VMP, n = 22) or impaired (VMI, n = 26) verbal memory based on the List Learning task, and 55 healthy controls (HC). Structural and functional connectivity matrices were obtained and analyzed to assess associations with disease status (SZ vs. HC) and verbal memory impairment (VMI vs. VMP) using two complementary data-driven approaches: threshold-free network-based statistics (TFNBS) and hybrid connectivity independent component analysis (connICA). TFNBS showed altered connectivity in SZ patients compared with HC (p

Published
2023

5. Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility

Author

Giuseppe De Michele, Alessandro Filla, Filippo M. Santorelli, Sirio Cocozza, Chiara Pane, Tommasina Fico, Alessandro Roca, Francesco Saccà, Daniele Galatolo, Maria Lieto, Giuseppe Pontillo, Lieto, M., Galatolo, D., Roca, A., Cocozza, S., Pontillo, G., Fico, T., Pane, C., Saccà, Francesco, De Michele, G., Santorelli, F. M., and Filla, A.

Subjects
medicine.medical_specialty, Ataxia, business.industry, media_common.quotation_subject, ataxia, RNF216, Fertility, Chorea, Letters: New Observations, Dermatology, RING Finger Protein, Neurology, medicine, chorea, Neurology (clinical), medicine.symptom, business, media_common, Sign (mathematics)
Published
2019

6. Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis

Author

Vincenzo Brescia Morra, Arturo Brunetti, Sirio Cocozza, Roberta Lanzillo, Camilla Russo, Giuseppe Pontillo, Antonio Pisani, Lorenzo Ugga, Eleonora Riccio, Ugga, Lorenzo, Cocozza, Sirio, Pontillo, Giuseppe, Russo, Camilla, Brescia Morra, Vincenzo, Lanzillo, Roberta, Riccio, Eleonora, Pisani, Antonio, and Brunetti, Arturo

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Fluid-attenuated inversion recovery, multiple sclerosis, Corpus callosum, Sensitivity and Specificity, Corpus Callosum, 030218 nuclear medicine & medical imaging, Diagnosis, Differential, Young Adult, 03 medical and health sciences, Behavioral Neuroscience, Lateral ventricles, 0302 clinical medicine, Cerebellum, medicine, Foramen, Humans, Child, Aged, Retrospective Studies, Original Research, Fabry disease, business.industry, Multiple sclerosis, infratentorial, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Female, Radiology, Differential diagnosis, business, 030217 neurology & neurosurgery, Brain Stem, MRI
Abstract

Background and Purpose Multiple Sclerosis (MS) has been proposed as a possible differential diagnosis with Fabry Disease (FD). We evaluated the incidence of infratentorial lesions in FD patients, investigating whether their presence could help in differentiating these two conditions. We explored the diagnostic accuracy of this sign alone and in combination to the involvement of corpus callosum (CC). Methods White Matter lesions were retrospectively evaluated on FLAIR images available from 136 MS and 144 FD patients. Infratentorial involvement was assessed considering the whole cerebellum, and the part of the brainstem included between the occipital foramen and the upper edge of the red nucleus. Furthermore, the presence of callosal lesions was also recorded, evaluating the portion of CC included between the two external walls of the lateral ventricles. Results Infratentorial involvement was detectable in 119/136 (87.5%) MS patients, while it was present in only 17/144 (11.8%) FD patients. When the diagnostic performance of a positive infratentorial involvement was evaluated in combination with the presence of CC lesions, a specificity of 97%, with a positive predictive value of 96% was reached. Conclusions We concluded that the absence of infratentorial lesions, especially when combined to the evaluation of other typical imaging features, can help in the differential diagnosis between MS and FD.

Published
2018

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