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1. Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?

Author

Liberatore, G, Manganelli, F, Doneddu, P, Cocito, D, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Mazzeo, A, Antonini, G, Cosentino, G, Jann, S, Cortese, A, Marfia, G, Clerici, A, Siciliano, G, Carpo, M, Luigetti, M, Lauria, G, Rosso, T, Cavaletti, G, Santoro, L, Peci, E, Tronci, S, Ruiz, M, Cotti Piccinelli, S, Schenone, A, Leonardi, L, Toscano, A, Mataluni, G, Spina, E, Gentile, L, Nobile-Orazio, E, Gallia, F, Beronio, A, Piccolo, L, Fierro, B, Verrengia, E, Bianchi, E, Beghi, E, Scrascia, F, Garnero, M, Sabatelli, M, Dacci, P, Schirinzi, E, Balducci, C, Liberatore G., Manganelli F., Doneddu P. E., Cocito D., Fazio R., Briani C., Filosto M., Benedetti L., Mazzeo A., Antonini G., Cosentino G., Jann S., Cortese A., Marfia G. A., Clerici A. M., Siciliano G., Carpo M., Luigetti M., Lauria G., Rosso T., Cavaletti G., Santoro L., Peci E., Tronci S., Ruiz M., Cotti Piccinelli S., Schenone A., Leonardi L., Toscano A., Mataluni G., Spina E., Gentile L., Nobile-Orazio E., Gallia F., Beronio A., Piccolo L., Fierro B., Verrengia E. P., Bianchi E., Beghi E., Scrascia F., Garnero M., Sabatelli M., Dacci P., Schirinzi E., Balducci C., Liberatore, G, Manganelli, F, Doneddu, P, Cocito, D, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Mazzeo, A, Antonini, G, Cosentino, G, Jann, S, Cortese, A, Marfia, G, Clerici, A, Siciliano, G, Carpo, M, Luigetti, M, Lauria, G, Rosso, T, Cavaletti, G, Santoro, L, Peci, E, Tronci, S, Ruiz, M, Cotti Piccinelli, S, Schenone, A, Leonardi, L, Toscano, A, Mataluni, G, Spina, E, Gentile, L, Nobile-Orazio, E, Gallia, F, Beronio, A, Piccolo, L, Fierro, B, Verrengia, E, Bianchi, E, Beghi, E, Scrascia, F, Garnero, M, Sabatelli, M, Dacci, P, Schirinzi, E, Balducci, C, Liberatore G., Manganelli F., Doneddu P. E., Cocito D., Fazio R., Briani C., Filosto M., Benedetti L., Mazzeo A., Antonini G., Cosentino G., Jann S., Cortese A., Marfia G. A., Clerici A. M., Siciliano G., Carpo M., Luigetti M., Lauria G., Rosso T., Cavaletti G., Santoro L., Peci E., Tronci S., Ruiz M., Cotti Piccinelli S., Schenone A., Leonardi L., Toscano A., Mataluni G., Spina E., Gentile L., Nobile-Orazio E., Gallia F., Beronio A., Piccolo L., Fierro B., Verrengia E. P., Bianchi E., Beghi E., Scrascia F., Garnero M., Sabatelli M., Dacci P., Schirinzi E., and Balducci C.

Abstract

Background and purpose: The aim was to identify the clinical and diagnostic investigations that may help to support a diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients not fulfilling the European Federation of Neurological Societies and Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria. Methods: The data from patients with a clinical diagnosis of CIDP included in a national database were retrospectively reviewed. Results: In all, 535 patients with a diagnosis of CIDP were included. This diagnosis fulfilled the EFNS/PNS criteria in 468 patients (87.2%) (definite in 430, probable in 33, possible in three, while two had chronic immune sensory polyradiculopathy). Sixty-seven patients had a medical history and clinical signs compatible with CIDP but electrodiagnostic studies did not fulfill the EFNS/PNS criteria for CIDP. These patients had similar clinical features and frequency of abnormal supportive criteria for the diagnosis of CIDP compared to patients fulfilling EFNS/PNS criteria. Two or more abnormal supportive criteria were present in 40 (61.2%) patients rising to 54 (80.6%) if a history of a relapsing course as a possible supportive criterion was also included. Increased cerebrospinal fluid proteins and response to immune therapy most frequently helped in supporting the diagnosis of CIDP. Response to therapy was similarly frequent in patients fulfilling or not EFNS/PNS criteria (87.3% vs. 85.9%). Conclusions: Patients with a clinical diagnosis of CIDP had similar clinical findings, frequency of abnormal supportive criteria and response to therapy compared to patients fulfilling EFNS/PNS criteria. The presence of abnormal supportive criteria may help in supporting the diagnosis of CIDP in patients with a medical history and clinical signs compatible with this diagnosis but non-diagnostic nerve conduction studies.

Published
2021

2. Chronic inflammatory demyelinating polyradiculoneuropathy: can a diagnosis be made in patients not fulfilling electrodiagnostic criteria?

Author

Liberatore, G., Manganelli, F., Doneddu, P. E., Cocito, D., Fazio, R., Briani, C., Filosto, M., Benedetti, L., Mazzeo, A., Antonini, G., Cosentino, G., Jann, S., Cortese, A., Marfia, G. A., Clerici, A. M., Siciliano, G., Carpo, M., Luigetti, M., Lauria, G., Rosso, T., Cavaletti, G., Santoro, L., Peci, E., Tronci, S., Ruiz, M., Cotti Piccinelli, S., Schenone, A., Leonardi, L., Toscano, A., Mataluni, G., Spina, E., Gentile, L., Nobile-Orazio, E., Gallia, F., Beronio, A., Piccolo, L., Fierro, B., Verrengia, E. P., Bianchi, E., Beghi, E., Scrascia, F., Garnero, M., Sabatelli, M., Dacci, P., Schirinzi, E., Balducci, C., Liberatore, G., Manganelli, F., Doneddu, P. E., Cocito, D., Fazio, R., Briani, C., Filosto, M., Benedetti, L., Mazzeo, A., Antonini, G., Cosentino, G., Jann, S., Cortese, A., Marfia, G. A., Clerici, A. M., Siciliano, G., Carpo, M., Luigetti, M., Lauria, G., Rosso, T., Cavaletti, G., Santoro, L., Peci, E., Tronci, S., Ruiz, M., Cotti-Piccinelli, S., Schenone, A., Leonardi, L., Toscano, A., Mataluni, G., Spina, E., Gentile, L., Nobile-Orazio, E., Gallia, F., Beronio, A., Piccolo, L., Fierro, B., Verrengia, E. P., Bianchi, E., Beghi, E., Scrascia, F., Garnero, M., Sabatelli, M., Dacci, P., Toni, G., Schirinzi, E., Balducci, C., Liberatore, G, Manganelli, F, Doneddu, P, Cocito, D, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Mazzeo, A, Antonini, G, Cosentino, G, Jann, S, Cortese, A, Marfia, G, Clerici, A, Siciliano, G, Carpo, M, Luigetti, M, Lauria, G, Rosso, T, Cavaletti, G, Santoro, L, Peci, E, Tronci, S, Ruiz, M, Cotti Piccinelli, S, Schenone, A, Leonardi, L, Toscano, A, Mataluni, G, Spina, E, Gentile, L, Nobile-Orazio, E, Gallia, F, Beronio, A, Piccolo, L, Fierro, B, Verrengia, E, Bianchi, E, Beghi, E, Scrascia, F, Garnero, M, Sabatelli, M, Dacci, P, Schirinzi, E, and Balducci, C

Subjects
Pediatrics, medicine.medical_specialty, Response to therapy, Databases, Factual, Neural Conduction, Settore MED/26, 03 medical and health sciences, 0302 clinical medicine, Peripheral nerve, Retrospective Studie, Medicine, Humans, Medical history, In patient, 030212 general & internal medicine, Peripheral Nerves, Retrospective Studies, chronic inflammatory demyelinating polyradiculoneuropathy, business.industry, Polyradiculoneuropathy, Polyradiculopathy, medicine.disease, electrophysiology, Settore MED/26 - NEUROLOGIA, Neurology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Clinical diagnosis, Peripheral Nerve, diagnostic criteria, National database, Neurology (clinical), business, 030217 neurology & neurosurgery, Human
Abstract

Background and purpose The aim was to identify the clinical and diagnostic investigations that may help to support a diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in patients not fulfilling the European Federation of Neurological Societies and Peripheral Nerve Society (EFNS/PNS) electrodiagnostic criteria. Methods The data from patients with a clinical diagnosis of CIDP included in a national database were retrospectively reviewed. Results In all, 535 patients with a diagnosis of CIDP were included. This diagnosis fulfilled the EFNS/PNS criteria in 468 patients (87.2%) (definite in 430, probable in 33, possible in three, while two had chronic immune sensory polyradiculopathy). Sixty-seven patients had a medical history and clinical signs compatible with CIDP but electrodiagnostic studies did not fulfill the EFNS/PNS criteria for CIDP. These patients had similar clinical features and frequency of abnormal supportive criteria for the diagnosis of CIDP compared to patients fulfilling EFNS/PNS criteria. Two or more abnormal supportive criteria were present in 40 (61.2%) patients rising to 54 (80.6%) if a history of a relapsing course as a possible supportive criterion was also included. Increased cerebrospinal fluid proteins and response to immune therapy most frequently helped in supporting the diagnosis of CIDP. Response to therapy was similarly frequent in patients fulfilling or not EFNS/PNS criteria (87.3% vs. 85.9%). Conclusions Patients with a clinical diagnosis of CIDP had similar clinical findings, frequency of abnormal supportive criteria and response to therapy compared to patients fulfilling EFNS/PNS criteria. The presence of abnormal supportive criteria may help in supporting the diagnosis of CIDP in patients with a medical history and clinical signs compatible with this diagnosis but non-diagnostic nerve conduction studies.

Published
2021

3. Impact of environmental factors and physical activity on disability and quality of life in CIDP

Author

Doneddu, P, Bianchi, E, Cocito, D, Manganelli, F, Fazio, R, Filosto, M, Beghi, E, Mazzeo, A, Cosentino, G, Cortese, A, Jann, S, Clerici, A, Antonini, G, Siciliano, G, Marfia, G, Briani, C, Lauria, G, Rosso, T, Cavaletti, G, Carpo, M, Benedetti, L, Schenone, A, Liberatore, G, Peci, E, Spina, E, Tronci, S, Cotti Piccinelli, S, Toscano, A, Gentile, L, Piccolo, L, Leonardi, L, Mataluni, G, Ruiz, M, Sabatelli, M, Santoro, L, Nobile-Orazio, E, Gallia, F, Velardo, D, Topa, A, Cotti-Piccinelli, S, Todeschini, A, Cabona, C, Zuppa, A, Callegari, I, Verrengia, E, Scrascia, F, Garnero, M, Luigetti, M, Dacci, P, Schirinzi, E, Balducci, C, Doneddu P. E., Bianchi E., Cocito D., Manganelli F., Fazio R., Filosto M., Beghi E., Mazzeo A., Cosentino G., Cortese A., Jann S., Clerici A. M., Antonini G., Siciliano G., Marfia G. A., Briani C., Lauria G., Rosso T., Cavaletti G., Carpo M., Benedetti L., Schenone A., Liberatore G., Peci E., Spina E., Tronci S., Cotti Piccinelli S., Toscano A., Gentile L., Piccolo L., Leonardi L., Mataluni G., Ruiz M., Sabatelli M., Santoro L., Nobile-Orazio E., Gallia F., Velardo D., Topa A., Cotti-Piccinelli S., Todeschini A., Cabona C., Zuppa A., Callegari I., Verrengia E. P., Scrascia F., Garnero M., Luigetti M., Dacci P., Schirinzi E., Balducci C., Doneddu, P, Bianchi, E, Cocito, D, Manganelli, F, Fazio, R, Filosto, M, Beghi, E, Mazzeo, A, Cosentino, G, Cortese, A, Jann, S, Clerici, A, Antonini, G, Siciliano, G, Marfia, G, Briani, C, Lauria, G, Rosso, T, Cavaletti, G, Carpo, M, Benedetti, L, Schenone, A, Liberatore, G, Peci, E, Spina, E, Tronci, S, Cotti Piccinelli, S, Toscano, A, Gentile, L, Piccolo, L, Leonardi, L, Mataluni, G, Ruiz, M, Sabatelli, M, Santoro, L, Nobile-Orazio, E, Gallia, F, Velardo, D, Topa, A, Cotti-Piccinelli, S, Todeschini, A, Cabona, C, Zuppa, A, Callegari, I, Verrengia, E, Scrascia, F, Garnero, M, Luigetti, M, Dacci, P, Schirinzi, E, Balducci, C, Doneddu P. E., Bianchi E., Cocito D., Manganelli F., Fazio R., Filosto M., Beghi E., Mazzeo A., Cosentino G., Cortese A., Jann S., Clerici A. M., Antonini G., Siciliano G., Marfia G. A., Briani C., Lauria G., Rosso T., Cavaletti G., Carpo M., Benedetti L., Schenone A., Liberatore G., Peci E., Spina E., Tronci S., Cotti Piccinelli S., Toscano A., Gentile L., Piccolo L., Leonardi L., Mataluni G., Ruiz M., Sabatelli M., Santoro L., Nobile-Orazio E., Gallia F., Velardo D., Topa A., Cotti-Piccinelli S., Todeschini A., Cabona C., Zuppa A., Callegari I., Verrengia E. P., Scrascia F., Garnero M., Luigetti M., Dacci P., Schirinzi E., and Balducci C.

Abstract

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 questionnaire, we collected data on lifestyle and dietary habits of the patients included in the Italian CIDP database to investigate the possible influence of modifiable lifestyle factors on disability and QoL. Questionnaire data were available for 323 patients. The effect of lifestyle and dietary exposures on impairment, disability and QoL was evaluated using logistic regression models, adjusting for age, sex, disease duration, physical activity and smoking. Physical activity was associated with lower sensory impairment by the ISS scale, less disability by the INCAT and RODS scale and a better QoL in all the domains of EURO-QoL scale with the exception of anxiety/depression. None of the other parameters had an impact on these scales. This study adds evidence to the possible role of physical activity in improving symptom severity, disability and QoL in patients with CIDP. None of the other environmental factors investigated appeared to have an impact on the severity and health perception of CIDP.

Published
2020

4. Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database

Author

Liberatore, G, Manganelli, F, Cocito, D, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Antonini, G, Cosentino, G, Jann, S, Mazzeo, A, Cortese, A, Marfia, G, Clerici, A, Siciliano, G, Carpo, M, Sabatelli, M, Lauria, G, Rosso, T, Nobile Orazio, E, Doneddu, P, Gallia, F, Nobile-Orazio, E, Peci, E, Tronci, S, Santoro, L, Spina, E, Ruiz, M, Piccinelli, S, Beronio, A, Toscano, A, Gentile, L, Mataluni, G, Piccolo, L, Callegari, I, Fierro, B, Pinuccia, V, Bianchi, E, Beghi, E, Scrascia, F, Garnero, M, Schenone, A, Luigetti, M, Dacci, P, Leonardi, L, Schirinzi, E, Balducci, C, Cavaletti, G, Liberatore G., Manganelli F., Cocito D., Fazio R., Briani C., Filosto M., Benedetti L., Antonini G., Cosentino G., Jann S., Mazzeo A., Cortese A., Marfia G. A., Clerici A. M., Siciliano G., Carpo M., Sabatelli M., Lauria G., Rosso T., Nobile Orazio E., Doneddu P. E., Gallia F., Nobile-Orazio E., Peci E., Tronci S., Santoro L., Spina E., Ruiz M., Piccinelli S. C., Beronio A., Toscano A., Gentile L., Mataluni G., Piccolo L., Callegari I., Fierro B., Pinuccia V. E., Bianchi E., Beghi E., Scrascia F., Garnero M., Schenone A., Luigetti M., Dacci P., Leonardi L., Schirinzi E., Balducci C., Cavaletti G., Liberatore, G, Manganelli, F, Cocito, D, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Antonini, G, Cosentino, G, Jann, S, Mazzeo, A, Cortese, A, Marfia, G, Clerici, A, Siciliano, G, Carpo, M, Sabatelli, M, Lauria, G, Rosso, T, Nobile Orazio, E, Doneddu, P, Gallia, F, Nobile-Orazio, E, Peci, E, Tronci, S, Santoro, L, Spina, E, Ruiz, M, Piccinelli, S, Beronio, A, Toscano, A, Gentile, L, Mataluni, G, Piccolo, L, Callegari, I, Fierro, B, Pinuccia, V, Bianchi, E, Beghi, E, Scrascia, F, Garnero, M, Schenone, A, Luigetti, M, Dacci, P, Leonardi, L, Schirinzi, E, Balducci, C, Cavaletti, G, Liberatore G., Manganelli F., Cocito D., Fazio R., Briani C., Filosto M., Benedetti L., Antonini G., Cosentino G., Jann S., Mazzeo A., Cortese A., Marfia G. A., Clerici A. M., Siciliano G., Carpo M., Sabatelli M., Lauria G., Rosso T., Nobile Orazio E., Doneddu P. E., Gallia F., Nobile-Orazio E., Peci E., Tronci S., Santoro L., Spina E., Ruiz M., Piccinelli S. C., Beronio A., Toscano A., Gentile L., Mataluni G., Piccolo L., Callegari I., Fierro B., Pinuccia V. E., Bianchi E., Beghi E., Scrascia F., Garnero M., Schenone A., Luigetti M., Dacci P., Leonardi L., Schirinzi E., Balducci C., and Cavaletti G.

Abstract

The objective of our work was to report the clinical features and the relevance of diagnostic investigations in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We retrospectively reviewed data from patients with a clinical diagnosis of CIDP included in a national database. Among the 500 included patients with a clinical diagnosis of CIDP, 437 patients (87%) fulfilled the European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP (definite in 407, probable in 26, possible in four). In 352 patients (86%) motor nerve conduction abnormalities consistent with demyelination were sufficient for the diagnosis of definite CIDP. In 55 patients, this diagnosis required the addition of one or two (from probable or from possible CIDP, respectively) supportive tests, while in 20 cases they improved the diagnosis from possible to probable CIDP, seven patients did not change diagnosis. Considering these 85 patients, cerebrospinal fluid studies were performed in 79 cases (93%) upgrading the certainty of diagnosis in 59% of examined patients. Sensory nerve conduction studies (NCS) were performed in 85% of patients with an improvement of diagnosis in 32% of cases. Nerve biopsy and ultrasound and magnetic resonance imaging (US/MRI) exams resulted positive in about 40% of examined patients, but they were performed in few patients (7 patients and 16 patients, respectively). A response to the therapy was present in 84% of treated patients (n = 77), contributing to support the diagnosis in 40 patients in whom the other supportive criteria were not sufficient. In most patients with CIDP the diagnosis is possible solely with motor NCS while other investigations may help improving the diagnosis in a minority of patients.

Published
2020

5. Relevance of diagnostic investigations in chronic inflammatory demyelinating poliradiculoneuropathy: Data from the Italian CIDP database

Author

Liberatore, G., Manganelli, F., Cocito, D., Fazio, R., Briani, C., Filosto, M., Benedetti, L., Antonini, G., Cosentino, G., Jann, S., Mazzeo, A., Cortese, A., Marfia, G. A., Clerici, A. M., Siciliano, G., Carpo, M., Sabatelli, M., Lauria, G., Rosso, T., Nobile Orazio, E., Doneddu, P. E., Gallia, F., Nobile-Orazio, E., Peci, E., Tronci, S., Santoro, L., Spina, E., Ruiz, M., Piccinelli, S. C., Beronio, A., Toscano, A., Gentile, L., Mataluni, G., Piccolo, L., Callegari, I., Fierro, B., Pinuccia, V. E., Bianchi, E., Beghi, E., Scrascia, F., Garnero, M., Schenone, A., Luigetti, M., Dacci, P., Leonardi, L., Schirinzi, E., Balducci, C., Cavaletti, G., Liberatore, G, Manganelli, F, Cocito, D, Fazio, R, Briani, C, Filosto, M, Benedetti, L, Antonini, G, Cosentino, G, Jann, S, Mazzeo, A, Cortese, A, Marfia, G, Clerici, A, Siciliano, G, Carpo, M, Sabatelli, M, Lauria, G, Rosso, T, Nobile Orazio, E, Doneddu, P, Gallia, F, Nobile-Orazio, E, Peci, E, Tronci, S, Santoro, L, Spina, E, Ruiz, M, Piccinelli, S, Beronio, A, Toscano, A, Gentile, L, Mataluni, G, Piccolo, L, Callegari, I, Fierro, B, Pinuccia, V, Bianchi, E, Beghi, E, Scrascia, F, Garnero, M, Schenone, A, Luigetti, M, Dacci, P, Leonardi, L, Schirinzi, E, Balducci, C, Cavaletti, G, Liberatore, G., Manganelli, F., Cocito, D., Fazio, R., Briani, C., Filosto, M., Benedetti, L., Antonini, G., Cosentino, G., Jann, S., Mazzeo, A., Cortese, A., Marfia, G. A., Clerici, A. M., Siciliano, G., Carpo, M., Sabatelli, M., Lauria, G., Rosso, T., Nobile Orazio, E., Doneddu, P. E., Gallia, F., Nobile-Orazio, E., Peci, E., Tronci, S., Santoro, L., Spina, E., Ruiz, M., Piccinelli, S. C., Beronio, A., Toscano, A., Gentile, L., Mataluni, G., Piccolo, L., Callegari, I., Fierro, B., Pinuccia, V. E., Bianchi, E., Beghi, E., Scrascia, F., Garnero, M., Schenone, A., Luigetti, M., Dacci, P., Leonardi, L., Schirinzi, E., Balducci, C., and Cavaletti, G.

Subjects
medicine.medical_specialty, peripheral neuropathy, Response to therapy, Motor nerve, CIDP, Settore MED/26, chronic inflammatory demyelinating neuropathy, diagnostic criteria, EMG, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, In patient, Nerve biopsy, medicine.diagnostic_test, business.industry, General Neuroscience, Polyradiculoneuropathy, medicine.disease, Chronic inflammatory demyelinating neuropathy, Diagnostic criteria, Peripheral neuropathy, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Clinical diagnosis, Neurology (clinical), business, 030217 neurology & neurosurgery, Sensory nerve
Abstract

The objective of our work was to report the clinical features and the relevance of diagnostic investigations in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We retrospectively reviewed data from patients with a clinical diagnosis of CIDP included in a national database. Among the 500 included patients with a clinical diagnosis of CIDP, 437 patients (87%) fulfilled the European Federation of Neurological Societies and Peripheral Nerve Society criteria for CIDP (definite in 407, probable in 26, possible in four). In 352 patients (86%) motor nerve conduction abnormalities consistent with demyelination were sufficient for the diagnosis of definite CIDP. In 55 patients, this diagnosis required the addition of one or two (from probable or from possible CIDP, respectively) supportive tests, while in 20 cases they improved the diagnosis from possible to probable CIDP, seven patients did not change diagnosis. Considering these 85 patients, cerebrospinal fluid studies were performed in 79 cases (93%) upgrading the certainty of diagnosis in 59% of examined patients. Sensory nerve conduction studies (NCS) were performed in 85% of patients with an improvement of diagnosis in 32% of cases. Nerve biopsy and ultrasound and magnetic resonance imaging (US/MRI) exams resulted positive in about 40% of examined patients, but they were performed in few patients (7 patients and 16 patients, respectively). A response to the therapy was present in 84% of treated patients (n = 77), contributing to support the diagnosis in 40 patients in whom the other supportive criteria were not sufficient. In most patients with CIDP the diagnosis is possible solely with motor NCS while other investigations may help improving the diagnosis in a minority of patients.

Published
2020

9. Movement disorders and brain iron overload in a new subtype of aceruloplasminemia

Author

Melgari, J, Marano, M, Quattrocchi, C, Piperno, A, Arosio, C, Frontali, M, Nuovo, S, Siotto, M, Salomone, G, Altavilla, R, di Biase, L, Scrascia, F, Squitti, R, Vernieri, F, Vernieri, F., PIPERNO, ALBERTO, Melgari, J, Marano, M, Quattrocchi, C, Piperno, A, Arosio, C, Frontali, M, Nuovo, S, Siotto, M, Salomone, G, Altavilla, R, di Biase, L, Scrascia, F, Squitti, R, Vernieri, F, Vernieri, F., and PIPERNO, ALBERTO

Published
2015

10. An improved I-FAST system for the diagnosis of Alzheimer's disease from unprocessed electroencephalograms by using robust invariant features

Author

Buscema, M, Vernieri, F, Massini, G, Scrascia, F, Breda, M, Rossini, Paolo Maria, Grossi, E., Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Buscema, M, Vernieri, F, Massini, G, Scrascia, F, Breda, M, Rossini, Paolo Maria, Grossi, E., and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

This paper proposes a new, complex algorithm for the blind classification of the original electroencephalogram (EEG) tracing of each subject, without any preliminary pre-processing. The medical need in this field is to reach an early differential diagnosis between subjects affected by mild cognitive impairment (MCI), early Alzheimer's disease (AD) and the healthy elderly (CTR) using only the recording and the analysis of few minutes of their EEG.

Published
2015

11. Cortical brain connectivity evaluated by graph theory in dementia: a correlation study between functional and structural data

Author

Vecchio, F, Miraglia, F, Curcio, G, Altavilla, R, Scrascia, F, Giambattistelli, F, Quattrocchi, Cc, Bramanti, P, Vernieri, F, Rossini, Paolo Maria, Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Vecchio, F, Miraglia, F, Curcio, G, Altavilla, R, Scrascia, F, Giambattistelli, F, Quattrocchi, Cc, Bramanti, P, Vernieri, F, Rossini, Paolo Maria, and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

A relatively new approach to brain function in neuroscience is the "functional connectivity", namely the synchrony in time of activity in anatomically-distinct but functionally-collaborating brain regions. On the other hand, diffusion tensor imaging (DTI) is a recently developed magnetic resonance imaging (MRI)-based technique with the capability to detect brain structural connection with fractional anisotropy (FA) identification. FA decrease has been observed in the corpus callosum of subjects with Alzheimer's disease (AD) and mild cognitive impairment (MCI, an AD prodromal stage). Corpus callosum splenium DTI abnormalities are thought to be associated with functional disconnections among cortical areas. This study aimed to investigate possible correlations between structural damage, measured by MRI-DTI, and functional abnormalities of brain integration, measured by characteristic path length detected in resting state EEG source activity (40 participants: 9 healthy controls, 10 MCI, 10 mild AD, 11 moderate AD). For each subject, undirected and weighted brain network was built to evaluate graph core measures. eLORETA lagged linear connectivity values were used as weight of the edges of the network. Results showed that callosal FA reduction is associated to a loss of brain interhemispheric functional connectivity characterized by increased delta and decreased alpha path length. These findings suggest that "global" (average network shortest path length representing an index of how efficient is the information transfer between two parts of the network) functional measure can reflect the reduction of fiber connecting the two hemispheres as revealed by DTI analysis and also anticipate in time this structural loss.

Published
2015

12. Unilateral cortical hyperexcitability in congenital hydrocephalus: a TMS study

Author

Guerra, A, Curcio, G, Pasqualetti, P, Bressi, F, Petrichella, S, Scrascia, F, Ponzo, D, Ferilli, M, Vernieri, F, Rossini, Paolo Maria, Ferreri, F., Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Guerra, A, Curcio, G, Pasqualetti, P, Bressi, F, Petrichella, S, Scrascia, F, Ponzo, D, Ferilli, M, Vernieri, F, Rossini, Paolo Maria, Ferreri, F., and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

Changes in cortical excitability are considered to play an important role in promoting brain plasticity both in healthy people and in neurological diseases. Hydrocephalus is a brain development disorder related to an excessive accumulation of cerebrospinal fluid (CSF) in the ventricular system. The functional relevance of cortical structural changes described in this disease is largely unexplored in human. We investigated cortical excitability using multimodal transcranial magnetic stimulation (TMS) in a case of congenital hydrocephalus with almost no neurological signs.

Published
2014

13. Alpha and beta EEG power reflects L-dopa acute administration in parkinsonian patients

Author

Melgari, J, Curcio, G, Mastrolilli, F, Salomone, G, Trotta, L, Tombini, M, Di Biase, L, Scrascia, F, Fini, R, Fabrizio, E, Rossini, Paolo Maria, Vernieri, F., Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Melgari, J, Curcio, G, Mastrolilli, F, Salomone, G, Trotta, L, Tombini, M, Di Biase, L, Scrascia, F, Fini, R, Fabrizio, E, Rossini, Paolo Maria, Vernieri, F., and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

To evaluate the effect of an acute L-dopa administration on eye-closed resting state electroencephalographic (EEG) activity of cognitively preserved Parkinsonian patients.

Published
2014

14. P56: Human brain cortical effective connectivity and excitability in Alzheimer’s disease: a combined EEG-TMS study

Author

Guerra, A., primary, Ferreri, F., additional, Vecchio, F., additional, Pasqualetti, P., additional, Vollero, L., additional, Petrichella, S., additional, Maeaettae, S., additional, Ponzo, D., additional, Mervaala, E., additional, Scrascia, F., additional, Ursini, F., additional, Bernardini, S., additional, Bressi, F., additional, Iannello, G., additional, and Rossini, P.M., additional

Published
2014
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15. Resting state cortical electroencephalographic rhythms are related to gray matter volume in subjects with mild cognitive impairment and Alzheimer's disease

Author

Babiloni, C, Carducci, F, Lizio, R, Vecchio, F, Baglieri, A, Bernardini, S, Cavedo, E, Bozzao, A, Buttinelli, C, Esposito, F, Giubilei, F, Guizzaro, A, Marino, S, Montella, P, Quattrocchi, Cc, Redolfi, A, Soricelli, A, Tedeschi, G, Ferri, R, Rossi Fedele, G, Ursini, F, Scrascia, F, Vernieri, F, Pedersen, Tj, Hardemark, H, Rossini, Paolo Maria, Frison, Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Babiloni, C, Carducci, F, Lizio, R, Vecchio, F, Baglieri, A, Bernardini, S, Cavedo, E, Bozzao, A, Buttinelli, C, Esposito, F, Giubilei, F, Guizzaro, A, Marino, S, Montella, P, Quattrocchi, Cc, Redolfi, A, Soricelli, A, Tedeschi, G, Ferri, R, Rossi Fedele, G, Ursini, F, Scrascia, F, Vernieri, F, Pedersen, Tj, Hardemark, H, Rossini, Paolo Maria, Frison, and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

Cortical gray matter volume and resting state cortical electroencephalographic rhythms are typically abnormal in subjects with amnesic mild cognitive impairment (MCI) and Alzheimer's disease (AD). Here we tested the hypothesis that in amnesic MCI and AD subjects, abnormalities of EEG rhythms are a functional reflection of cortical atrophy across the disease. Eyes-closed resting state EEG data were recorded in 57 healthy elderly (Nold), 102 amnesic MCI, and 108 AD patients. Cortical gray matter volume was indexed by magnetic resonance imaging recorded in the MCI and AD subjects according to Alzheimer's disease neuroimaging initiative project (http://www.adni-info.org/). EEG rhythms of interest were delta (2-4 Hz), theta (4-8 Hz), alpha1 (8-10.5 Hz), alpha2 (10.5-13 Hz), beta1 (13-20 Hz), beta2 (20-30 Hz), and gamma (30-40 Hz). These rhythms were indexed by LORETA. Compared with the Nold, the MCI showed a decrease in amplitude of alpha 1 sources. With respect to the Nold and MCI, the AD showed an amplitude increase of delta sources, along with a strong amplitude reduction of alpha 1 sources. In the MCI and AD subjects as a whole group, the lower the cortical gray matter volume, the higher the delta sources, the lower the alpha 1 sources. The better the score to cognitive tests the higher the gray matter volume, the lower the pathological delta sources, and the higher the alpha sources. These results suggest that in amnesic MCI and AD subjects, abnormalities of resting state cortical EEG rhythms are not epiphenomena but are strictly related to neurodegeneration (atrophy of cortical gray matter) and cognition.

Published
2013

16. Unilateral cortical hyperexcitability in congenital hydrocephalus: A TMS study

Author

Guerra, A, Curcio, G, Pasqualetti, P, Bressi, F, Petrichella, S, Scrascia, F, Ponzo, D, Ferilli, M, Vernieri, F, Rossini, Paolo Maria, Ferreri, F., Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Guerra, A, Curcio, G, Pasqualetti, P, Bressi, F, Petrichella, S, Scrascia, F, Ponzo, D, Ferilli, M, Vernieri, F, Rossini, Paolo Maria, Ferreri, F., and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

Introduction: Changes in cortical excitability are considered to play an important role in promoting brain plasticity both in healthy people and in neurological diseases. Hydrocephalus is a brain development disorder related to an excessive accumulation of cerebrospinal fluid (CSF) in the ventricular system. The functional relevance of cortical structural changes described in this disease is largely unexplored in human. We investigated cortical excitability using multimodal transcranial magnetic stimulation (TMS) in a case of congenital hydrocephalus with almost no neurological signs. Methods: A caucasian 40 years old, ambidextrous and multilingual woman affected by occult spina bifida and congenital symmetrical hydrocephalous underwent a TMS study. The intracortical and interhemispheric paired pulse paradigms were used, together with the mapping technique. Results: No significant differences were found in the resting motor thresholds between the two hemispheres. Instead, the intracortical excitability curves were statistically different between the two hemispheres (with short intracortical inhibition (SICI) being strongly reduced and intracortical facilitation (ICF) enhanced in the right one), and the interhemispheric curves showed a general hyper-excitability on the right hemisphere (when conditioned by the left one) and a general hypo-excitability in the left hemisphere (when conditioned by the right one). It is noteworthy that an asymmetric right hemisphere (RH) change of excitability was observed by means of mapping technique. Conclusion: We hypothesize that in this ambidextrous subject, the observed RH hyper-excitability could represent a mechanism of plasticity to preserve functionality of specific brain areas possibly devoted to some special skills, such as multilingualism.

Published
2013

17. Resting state cortical electroencephalographic rhythms are related to gray matter volume in subjects with mild cognitive impairment and Alzheimer's disease

Author

Babiloni, C, Carducci, F, Lizio, R, Vecchio, F. M., Baglieri, A, Bernardini, S, Cavedo, E, Bozzao, A, Buttinelli, C, Esposito, F, Giubilei, F, Guizzaro, A, Marino, S, Montella, P, Quattrocchi, Cc, Redolfi, A, Soricelli, A, Tedeschi, Giulio, Ferri, R, Rossi Fedele, G, Ursini, F, Scrascia, F, Vernieri, F, Pedersen, Tj, Hardemark, H, Rossini, Paolo Maria, Frisoni, Giovanni, Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Babiloni, C, Carducci, F, Lizio, R, Vecchio, F. M., Baglieri, A, Bernardini, S, Cavedo, E, Bozzao, A, Buttinelli, C, Esposito, F, Giubilei, F, Guizzaro, A, Marino, S, Montella, P, Quattrocchi, Cc, Redolfi, A, Soricelli, A, Tedeschi, Giulio, Ferri, R, Rossi Fedele, G, Ursini, F, Scrascia, F, Vernieri, F, Pedersen, Tj, Hardemark, H, Rossini, Paolo Maria, Frisoni, Giovanni, and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

Cortical gray matter volume and resting state cortical electroencephalographic rhythms are typically abnormal in subjects with amnesic mild cognitive impairment (MCI) and Alzheimer's disease (AD). Here we tested the hypothesis that in amnesic MCI and AD subjects, abnormalities of EEG rhythms are a functional reflection of cortical atrophy across the disease. Eyes-closed resting state EEG data were recorded in 57 healthy elderly (Nold), 102 amnesic MCI, and 108 AD patients. Cortical gray matter volume was indexed by magnetic resonance imaging recorded in the MCI and AD subjects according to Alzheimer's disease neuroimaging initiative project (http://www.adni-info.org/). EEG rhythms of interest were delta (2-4 Hz), theta (4-8 Hz), alpha1 (8-10.5 Hz), alpha2 (10.5-13 Hz), beta1 (13-20 Hz), beta2 (20-30 Hz), and gamma (30-40 Hz). These rhythms were indexed by LORETA. Compared with the Nold, the MCI showed a decrease in amplitude of alpha 1 sources. With respect to the Nold and MCI, the AD showed an amplitude increase of delta sources, along with a strong amplitude reduction of alpha 1 sources. In the MCI and AD subjects as a whole group, the lower the cortical gray matter volume, the higher the delta sources, the lower the alpha 1 sources. The better the score to cognitive tests the higher the gray matter volume, the lower the pathological delta sources, and the higher the alpha sources. These results suggest that in amnesic MCI and AD subjects, abnormalities of resting state cortical EEG rhythms are not epiphenomena but are strictly related to neurodegeneration (atrophy of cortical gray matter) and cognition. Hum Brain Mapp, 2012. © 2012 Wiley Periodicals, Inc.

Published
2012

18. Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

Author

Bucossi, S, Mariani, Stefano, Ventriglia, M, Polimanti, R, Gennarelli, Massimo, Bonvicini, C, Pasqualetti, P, Scrascia, F, Migliore, S, Vernieri, F, Rossini, Paolo Maria, Squitti, R., Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Bucossi, S, Mariani, Stefano, Ventriglia, M, Polimanti, R, Gennarelli, Massimo, Bonvicini, C, Pasqualetti, P, Scrascia, F, Migliore, S, Vernieri, F, Rossini, Paolo Maria, Squitti, R., and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

Nonceruloplasmin-bound copper ("free") is reported to be elevated in Alzheimer's disease (AD). In Wilson's disease (WD) Cu-ATPase 7B protein tightly controls free copper body levels. To explore whether the ATP7B gene harbours susceptibility loci for AD, we screened 180 AD chromosomes for sequence changes in exons 2, 5, 8, 10, 14, and 16, where most of the Mediterranean WD-causing mutations lie. No WD mutation, but sequence changes corresponding to c.1216 T>G Single-Nucleotide Polymorphism (SNP) and c.2495 A>G SNP were found. Thereafter, we genotyped 190 AD patients and 164 controls for these SNPs frequencies estimation. Logistic regression analyses revealed either a trend for the c.1216 SNP (P = .074) or a higher frequency for c.2495 SNP of the GG genotype in patients, increasing the probability of AD by 74% (P = .028). Presence of the GG genotype in ATP7B c.2495 could account for copper dysfunction in AD which has been shown to raise the probability of the disease.

Published
2011

21. Movement disorders and brain iron overload in a new subtype of aceruloplasminemia

Author

Cristina Arosio, Gaetano Salomone, Alberto Piperno, Mariacristina Siotto, Lazzaro di Biase, Massimo Marano, Rosanna Squitti, Federica Scrascia, Carlo Cosimo Quattrocchi, Fabrizio Vernieri, Sara Nuovo, Jean Marc Melgari, Marina Frontali, Riccardo Altavilla, Melgari, J, Marano, M, Quattrocchi, C, Piperno, A, Arosio, C, Frontali, M, Nuovo, S, Siotto, M, Salomone, G, Altavilla, R, di Biase, L, Scrascia, F, Squitti, R, and Vernieri, F

Subjects
medicine.medical_specialty, Neurology, Movement disorders, Tetrabenazine, Chorea, medicine, Ceruloplasmin, Dystonia, NBIA, Adrenergic Uptake Inhibitors, Brain, Diagnosis, Differential, Female, Humans, Iron Metabolism Disorders, Iron Overload, Middle Aged, Movement Disorders, Neurodegenerative Diseases, Treatment Outcome, iron deposit, Aceruloplasminemia, biology, business.industry, aceruloplasminemia, medicine.disease, biology.protein, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business, Neuroscience, medicine.drug
Abstract

A female patient is reported affected by aceruloplasminemia with absence of iron deposits in liver and other splancnic organs

Published
2015

22. The Italian Alzheimer's Disease Neuroimaging Initiative (I-ADNI): Validation of Structural MR Imaging

Author

Annalisa Baglieri, Carlo Cosimo Quattrocchi, Federica Scrascia, Claudio Babiloni, Maria Grazia Bruzzone, Luisa Chiapparini, Enrica Cavedo, Domenico Aquino, Giovanni B. Frisoni, Gioacchino Tedeschi, Patrizia Chiarati, Marcella Alesiani, Andrea Soricelli, Elena Sinforiani, Patrizia Montella, Andrea Cherubini, Milena Cobelli, Filippo Carducci, Silvia Marino, Alberto Redolfi, Fabrizio Vernieri, Roberta Lizio, Daniele Corbo, Francesco Angeloni, Simona De Salvo, Elena Salvatore, Stefano Bastianello, Umberto Sabatini, Cavedo, E, Redolfi, A, Angeloni, F, Babiloni, C, Lizio, R, Chiapparini, L, Bruzzone, Mg, Aquino, D, Sabatini, U, Alesiani, M, Cherubini, A, Salvatore, E, Soricelli, A, Vernieri, F, Scrascia, F, Sinforiani, E, Chiarati, P, Bastianello, S, Montella, P, Corbo, D, Tedeschi, Gioacchino, Marino, S, Baglieri, A, DE SALVO, S, Carducci, F, Quattrocchi, Cc, Cobelli, M, Frisoni, G. B., Salvatore, Elena, Tedeschi, G, and De Salvo, S

Subjects
Male, Imaging biomarker, hippocampus, intracranial volume, standardized operating procedures, Neuropsychological Tests, Structural magnetic resonance imaging, ddc:616.89, mild cognitive impairment, Neuroimaging, Alzheimer Disease, Intracranial volume, mental disorders, Image Processing, Computer-Assisted, medicine, Humans, Analysis of Variance, medicine.diagnostic_test, business.industry, General Neuroscience, alzheimer's disease, magnetic resonance imaging, Brain, Reproducibility of Results, Magnetic resonance imaging, General Medicine, Magnetic Resonance Imaging, Mr imaging, Psychiatry and Mental health, Clinical Psychology, Italy, Female, Geriatrics and Gerontology, business, Neuroscience, Alzheimer's Disease Neuroimaging Initiative
Abstract

Background: The North American Alzheimer's Disease Neuroimaging Initiative (NA-ADNI) was the first program to develop standardized procedures for Alzheimer's disease (AD) imaging biomarker collection. Objective: We describe the validation of acquisition and processing of structural magnetic resonance imaging (MRI) in different Italian academic AD clinics following NA-ADNI procedures. Methods: 373 patients with subjective memory impairment (n = 12), mild cognitive impairment (n = 92), Alzheimer's dementia (n = 253), and frontotemporal dementia (n = 16) were enrolled in 9 Italian centers. Also included were 22 cognitively healthy elderly controls. MRI site qualification and MP-RAGE quality assessment was applied following the NA-ADNI procedures. Indices of validity were: (i) AN-ADNI phantom's signal-to-noise and contrast-to-noise ratio, (ii) proportion of images passing quality control, (iii) comparability of automated intracranial volume (ICV) estimates across scanners, and (iv) known-group validity of manual hippocampal volumetry. Results: Results on Phantom and Volunteers scans showed that I-ADNI acquisition parameters were comparable with those one of the ranked-A ADNI scans. Eighty-seven percent of I-ADNI MPRAGE images were ranked of high quality in comparison of 69% of NA-ADNI. ICV showed homogeneous variances across scanners except for Siemens scanners at 3.0 Tesla (p = 0.039). A significant difference in hippocampal volume was found between AD and controls on 1.5 Tesla scans (p < 0.001), confirming known group validity test. Conclusion: This study has provided standardization of MRI acquisition and imaging marker collection across different Italian clinical units and equipment. This is a mandatory step to the implementation of imaging biomarkers in clinical routine for early and differential diagnosis.

Published
2014

23. Resting state cortical electroencephalographic rhythms are related to gray matter volume in subjects with mild cognitive impairment and Alzheimer's disease

Author

Carlo Cosimo Quattrocchi, Francesca Ursini, Fabrizio Esposito, Fabrizio Vernieri, Roberta Lizio, Raffaele Ferri, Torleif Jan Pedersen, Claudio Babiloni, Gioacchino Tedeschi, Giovanni B. Frisoni, Silvia Marino, Alessandro Bozzao, Andrea Soricelli, Giancarlo Rossi-Fedele, Federica Scrascia, Fabrizio Vecchio, Annalisa Baglieri, Guizzaro A, Paolo Maria Rossini, Filippo Carducci, Alberto Redolfi, Carla Buttinelli, Hans Goran Hardemark, Enrica Cavedo, Franco Giubilei, Silvia Bernardini, Patrizia Montella, Babiloni, C, Carducci, F, Lizio, R, Vecchio, F, Baglieri, A, Bernardini, S, Cavedo, E, Bozzao, A, Buttinelli, C, Esposito, F, Giubilei, F, Guizzaro, A, Marino, S, Montella, P, Quattrocchi, Cc, Redolfi, A, Soricelli, A, Tedeschi, Gioacchino, Ferri, R, Rossi Fedele, G, Ursini, F, Scrascia, F, Vernieri, F, Pedersen, Tj, Hardemark, Hg, Rossini, Pm, and Frisoni, G. B.

Subjects
Male, medicine.medical_specialty, low resolution brain electromagnetic tomography (loreta), alzheimer, Rest, Electroencephalography, Audiology, rhythms, amnesic mild cognitive impairment (mci), resting state electroencephalography (eeg), magnetic resonance imaging (mri), alzheimer's disease neuroimaging initiative (adni), gray matter volume, Atrophy, Rhythm, Neuroimaging, Alzheimer Disease, medicine, Humans, Radiology, Nuclear Medicine and imaging, Cognitive Dysfunction, Research Articles, Aged, Radiological and Ultrasound Technology, medicine.diagnostic_test, Resting state fMRI, Brain, Magnetic resonance imaging, Cognition, medicine.disease, Magnetic Resonance Imaging, Settore MED/26 - NEUROLOGIA, Neurology, Nerve Degeneration, Female, Neurology (clinical), Anatomy, Alzheimer's disease, Psychology, Neuroscience
Abstract

Cortical gray matter volume and resting state cortical electroencephalographic rhythms are typically abnormal in subjects with amnesic mild cognitive impairment (MCI) and Alzheimer's disease (AD). Here we tested the hypothesis that in amnesic MCI and AD subjects, abnormalities of EEG rhythms are a functional reflection of cortical atrophy across the disease. Eyes‐closed resting state EEG data were recorded in 57 healthy elderly (Nold), 102 amnesic MCI, and 108 AD patients. Cortical gray matter volume was indexed by magnetic resonance imaging recorded in the MCI and AD subjects according to Alzheimer's disease neuroimaging initiative project (http://www.adni-info.org/). EEG rhythms of interest were delta (2–4 Hz), theta (4–8 Hz), alpha1 (8–10.5 Hz), alpha2 (10.5–13 Hz), beta1 (13–20 Hz), beta2 (20–30 Hz), and gamma (30–40 Hz). These rhythms were indexed by LORETA. Compared with the Nold, the MCI showed a decrease in amplitude of alpha 1 sources. With respect to the Nold and MCI, the AD showed an amplitude increase of delta sources, along with a strong amplitude reduction of alpha 1 sources. In the MCI and AD subjects as a whole group, the lower the cortical gray matter volume, the higher the delta sources, the lower the alpha 1 sources. The better the score to cognitive tests the higher the gray matter volume, the lower the pathological delta sources, and the higher the alpha sources. These results suggest that in amnesic MCI and AD subjects, abnormalities of resting state cortical EEG rhythms are not epiphenomena but are strictly related to neurodegeneration (atrophy of cortical gray matter) and cognition. Hum Brain Mapp, 2013. © 2012 Wiley Periodicals, Inc.

Published
2012

24. Regional MRI Diffusion, White-Matter Hyperintensities, and Cognitive Function in Alzheimer's Disease and Vascular Dementia.

Author

Altamura C, Scrascia F, Quattrocchi CC, Errante Y, Gangemi E, Curcio G, Ursini F, Silvestrini M, Maggio P, Beomonte Zobel B, Rossini PM, Pasqualetti P, Falsetti L, and Vernieri F

Abstract

Background and Purpose: An increase in brain water diffusivity as measured using magnetic resonance imaging (MRI) has been recently reported in normal-appearing white matter (NAWM) in patients affected by cognitive impairment. However, it remains to be clarified if this reflects an overt neuronal tissue disruption that leads to degenerative or microvascular lesions. This question was addressed by comparing the regional MRI apparent diffusion coefficients (ADCs) of NAWM in patients affected by Alzheimer's disease (AD) or vascular dementia (VaD). The relationships of ADCs with the white-matter hyperintensity (WMH) burden, carotid atherosclerosis, and cognitive performance were also investigated., Methods: Forty-nine AD and 31 VaD patients underwent brain MRI to assess the WMH volume and regional NAWM ADCs, neuropsychological evaluations, and carotid ultrasound to assess the plaque severity and intima-media thickness (IMT)., Results: Regional ADCs in NAWM did not differ between VaD and AD patients, while the WMH volume was greater in VaD than in AD patients. The ADC in the anterior corpus callosum was related to the WMH volume, while a greater carotid IMT was positively correlated with the temporal ADC and WMH volume. The memory performance was worse in patients with higher temporal ADCs. Constructional praxis scores were related to ADCs in the frontal, and occipital lobes, in the anterior and posterior corpus callosum as well as to the WMH volume. Abstract reasoning was related to frontal, parietal, and temporal ADCs., Conclusions: Our data show that higher regional ADCs in NAWM are associated with microcirculatory impairment, as depicted by the WMH volume. Moreover, regional ADCs in NAWM are differently associated with the neuropsychological performances in memory, constructional praxia, and abstract reasoning domains.

Published
2016
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25. Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.

Author

Melgari JM, Marano M, Quattrocchi CC, Piperno A, Arosio C, Frontali M, Nuovo S, Siotto M, Salomone G, Altavilla R, di Biase L, Scrascia F, Squitti R, and Vernieri F

Subjects
Adrenergic Uptake Inhibitors administration & dosage, Adrenergic Uptake Inhibitors therapeutic use, Ceruloplasmin genetics, Chorea etiology, Diagnosis, Differential, Dystonia etiology, Female, Humans, Iron Overload genetics, Middle Aged, Movement Disorders drug therapy, Movement Disorders physiopathology, Tetrabenazine administration & dosage, Tetrabenazine therapeutic use, Treatment Outcome, Brain pathology, Ceruloplasmin deficiency, Iron Metabolism Disorders genetics, Iron Overload complications, Movement Disorders diagnosis, Movement Disorders genetics, Neurodegenerative Diseases genetics
Published
2015
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26. An improved I-FAST system for the diagnosis of Alzheimer's disease from unprocessed electroencephalograms by using robust invariant features.

Author

Buscema M, Vernieri F, Massini G, Scrascia F, Breda M, Rossini PM, and Grossi E

Subjects
Bayes Theorem, Cognitive Dysfunction diagnosis, Diagnosis, Differential, Electroencephalography methods, Female, Humans, Male, Neural Networks, Computer, Alzheimer Disease diagnosis, Pattern Recognition, Automated methods
Abstract

Objective: This paper proposes a new, complex algorithm for the blind classification of the original electroencephalogram (EEG) tracing of each subject, without any preliminary pre-processing. The medical need in this field is to reach an early differential diagnosis between subjects affected by mild cognitive impairment (MCI), early Alzheimer's disease (AD) and the healthy elderly (CTR) using only the recording and the analysis of few minutes of their EEG., Methods and Material: This study analyzed the EEGs of 272 subjects, recorded at Rome's Neurology Unit of the Policlinico Campus Bio-Medico. The EEG recordings were performed using 19 electrodes, in a 0.3-70Hz bandpass, positioned according to the International 10-20 System. Many powerful learning machines and algorithms have been proposed during the last 20 years to effectively resolve this complex problem, resulting in different and interesting outcomes. Among these algorithms, a new artificial adaptive system, named implicit function as squashing time (I-FAST), is able to diagnose, with high accuracy, a few minutes of the subject's EEG track; whether it manifests an AD, MCI or CTR condition. An updating of this system, carried out by adding a new algorithm, named multi scale ranked organizing maps (MS-ROM), to the I-FAST system, is presented, in order to classify with greater accuracy the unprocessed EEG's of AD, MCI and control subjects., Results: The proposed system has been measured on three independent pattern recognition tasks from unprocessed EEG tracks of a sample of AD subjects, MCI subjects and CTR: (a) AD compared with CTR; (b) AD compared with MCI; (c) CTR compared with MCI. While the values of accuracy of the previous system in distinguishing between AD and MCI were around 92%, the new proposed system reaches values between 94% and 98%. Similarly, the overall accuracy with best artificial neural networks (ANNs) is 98.25% for the distinguishing between CTR and MCI., Conclusions: This new version of I-FAST makes different steps forward: (a) avoidance of pre-processing phase and filtering procedure of EEG data, being the algorithm able to directly process an unprocessed EEG; (b) noise elimination, through the use of a training variant with input selection and testing system, based on naïve Bayes classifier; (c) a more robust classification phase, showing the stability of results on nine well known learning machine algorithms; (d) extraction of spatial invariants of an EEG signal using, in addition to the unsupervised ANN, the principal component analysis and the multi scale entropy, together with the MS-ROM; a more accurate performance in this specific task., (Copyright © 2015 Elsevier B.V. All rights reserved.)

Published
2015
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28. Elevation of Plasma 2-Arachidonoylglycerol Levels in Alzheimer's Disease Patients as a Potential Protective Mechanism against Neurodegenerative Decline.

Author

Altamura C, Ventriglia M, Martini MG, Montesano D, Errante Y, Piscitelli F, Scrascia F, Quattrocchi C, Palazzo P, Seccia S, Vernieri F, and Di Marzo V

Subjects
Aged, Aged, 80 and over, Alzheimer Disease diagnostic imaging, Attention, Biomarkers, Case-Control Studies, Cerebrovascular Circulation, Cross-Sectional Studies, Female, Humans, Magnetic Resonance Imaging, Male, Memory, Neuropsychological Tests, Alzheimer Disease blood, Arachidonic Acids blood, Brain blood supply, Carotid Intima-Media Thickness, Endocannabinoids blood, Glycerides blood
Abstract

Background: Growing evidence suggests that the endocannabinoid system is involved in the pathogenesis of Alzheimer's disease (AD) and atherosclerosis., Objective: The purpose of this study was to investigate the activation of the endocannabinoid system in AD in vivo and the possible intermediate role of atherosclerosis., Methods: We enrolled 41 patients with probable AD, and 30 age- and gender-matched controls. All subjects underwent: ultrasound examination of cerebral and neck vessels (including intima-media thickness and plaque stenosis evaluation); blood sampling to measure levels of endocannabinoid [anandamide (AEA), 2-arachidonoylglycerol (2-AG)] and endogenous AEA analogues [N-palmitoyl-ethanolamide (PEA); N-oleoyl-ethanolamide]; neuropsychological evaluation and brain MRI (atrophy, white matter hyperintensity volume)., Results: 2-AG levels were higher in AD patients compared to controls (Mann-Whitney test p = 0.021). In the AD group, 2-AG correlated to white matter hyperintensity volume (r = 0.415, p = 0.015) and was higher in patients with chronic heart ischemic disease (p = 0.023). In AD patients, 2-AG was also positively related to memory (r = 0.334, p = 0.05) and attention (r = 0.423, p = 0.018) performances. Constructional praxia test scores were lower in patients with higher levels of PEA (r =-0.389, p = 0.019)., Conclusion: AD patients present high plasma 2-AG levels, also in relation to heart ischemic disease and cerebral leukoaraiosis. This may be a protective mechanism hindering neurodegeneration, but it may also play an ambivalent role on cerebrovascular circulation. The increase in 2-AG and PEA levels observed with ongoing pathological processes may differently modulate cognitive performances.

Published
2015
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29. Cortical brain connectivity evaluated by graph theory in dementia: a correlation study between functional and structural data.

Author

Vecchio F, Miraglia F, Curcio G, Altavilla R, Scrascia F, Giambattistelli F, Quattrocchi CC, Bramanti P, Vernieri F, and Rossini PM

Subjects
Anisotropy, Cognitive Dysfunction, Diffusion Tensor Imaging, Electroencephalography, Female, Humans, Image Processing, Computer-Assisted, Male, Mental Status Schedule, Statistics as Topic, Brain Mapping, Cerebral Cortex pathology, Cerebral Cortex physiopathology, Dementia pathology, Nerve Net pathology
Abstract

A relatively new approach to brain function in neuroscience is the "functional connectivity", namely the synchrony in time of activity in anatomically-distinct but functionally-collaborating brain regions. On the other hand, diffusion tensor imaging (DTI) is a recently developed magnetic resonance imaging (MRI)-based technique with the capability to detect brain structural connection with fractional anisotropy (FA) identification. FA decrease has been observed in the corpus callosum of subjects with Alzheimer's disease (AD) and mild cognitive impairment (MCI, an AD prodromal stage). Corpus callosum splenium DTI abnormalities are thought to be associated with functional disconnections among cortical areas. This study aimed to investigate possible correlations between structural damage, measured by MRI-DTI, and functional abnormalities of brain integration, measured by characteristic path length detected in resting state EEG source activity (40 participants: 9 healthy controls, 10 MCI, 10 mild AD, 11 moderate AD). For each subject, undirected and weighted brain network was built to evaluate graph core measures. eLORETA lagged linear connectivity values were used as weight of the edges of the network. Results showed that callosal FA reduction is associated to a loss of brain interhemispheric functional connectivity characterized by increased delta and decreased alpha path length. These findings suggest that "global" (average network shortest path length representing an index of how efficient is the information transfer between two parts of the network) functional measure can reflect the reduction of fiber connecting the two hemispheres as revealed by DTI analysis and also anticipate in time this structural loss.

Published
2015
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30. Alpha and beta EEG power reflects L-dopa acute administration in parkinsonian patients.

Author

Melgari JM, Curcio G, Mastrolilli F, Salomone G, Trotta L, Tombini M, di Biase L, Scrascia F, Fini R, Fabrizio E, Rossini PM, and Vernieri F

Abstract

Aim: To evaluate the effect of an acute L-dopa administration on eye-closed resting state electroencephalographic (EEG) activity of cognitively preserved Parkinsonian patients., Methods: We examined 24 right-handed patients diagnosed as uncomplicated probable Parkinson's disease (PD). Each patient underwent Unified Parkinson's Disease Rating Scale (UPDRS)-part-III evaluation before and 60 min after an oral load of L-dopa-methyl-ester/carbidopa 250/25 mg. Resting condition eyes-closed EEG data were recorded both pre- and post L-dopa load. Absolute EEG power values were calculated at each scalp derivation for Delta, Theta, Alpha and Beta frequency bands. UPDRS scores (both global and subscale scores) and EEG data (power values of different frequency bands for each scalp derivation) were submitted to a statistical analysis to compare Pre and Post L-Dopa conditions. Finally, a correlation analysis was carried out between EEG spectral content and UPDRS scores., Results: Considering EEG power spectral analysis, no statistically significant differences arose on Delta and Theta bands after L-dopa intake. Conversely, Alpha and Beta rhythms significantly increased on centro-parietal scalp derivations, as a function of L-dopa administration. Correlation analysis indicated a significant negative correlation between Beta power increase on centro-parietal areas and UPDRS subscores (Rigidity of arms and Bradykinesia). A minor significant negative correlation was also found between Alpha band increase and resting tremor., Conclusions: Assuming that a significant change in EEG power spectrum after L-dopa intake may be related to dopaminergic mechanisms, our findings are consistent with the hypothesis that dopaminergic defective networks are implicated in cortical oscillatory abnormalities at rest in non-demented PD patients.

Published
2014
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31. Unilateral cortical hyperexcitability in congenital hydrocephalus: a TMS study.

Author

Guerra A, Curcio G, Pasqualetti P, Bressi F, Petrichella S, Scrascia F, Ponzo D, Ferilli M, Vernieri F, Rossini PM, and Ferreri F

Subjects
Adult, Brain Mapping methods, Evoked Potentials, Motor physiology, Female, Functional Laterality physiology, Humans, Spinal Dysraphism complications, Spinal Dysraphism physiopathology, Cerebral Cortex physiopathology, Hydrocephalus congenital, Hydrocephalus physiopathology, Transcranial Magnetic Stimulation methods
Abstract

Introduction: Changes in cortical excitability are considered to play an important role in promoting brain plasticity both in healthy people and in neurological diseases. Hydrocephalus is a brain development disorder related to an excessive accumulation of cerebrospinal fluid (CSF) in the ventricular system. The functional relevance of cortical structural changes described in this disease is largely unexplored in human. We investigated cortical excitability using multimodal transcranial magnetic stimulation (TMS) in a case of congenital hydrocephalus with almost no neurological signs., Methods: A caucasian 40 years old, ambidextrous and multilingual woman affected by occult spina bifida and congenital symmetrical hydrocephalous underwent a TMS study. The intracortical and interhemispheric paired pulse paradigms were used, together with the mapping technique., Results: No significant differences were found in the resting motor thresholds between the two hemispheres. Instead, the intracortical excitability curves were statistically different between the two hemispheres (with short intracortical inhibition (SICI) being strongly reduced and intracortical facilitation (ICF) enhanced in the right one), and the interhemispheric curves showed a general hyper-excitability on the right hemisphere (when conditioned by the left one) and a general hypo-excitability in the left hemisphere (when conditioned by the right one). It is noteworthy that an asymmetric right hemisphere (RH) change of excitability was observed by means of mapping technique., Conclusion: We hypothesize that in this ambidextrous subject, the observed RH hyper-excitability could represent a mechanism of plasticity to preserve functionality of specific brain areas possibly devoted to some special skills, such as multilingualism.

Published
2014
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32. Relationship among diffusion tensor imaging, EEG activity, and cognitive status in mild cognitive impairment and Alzheimer's disease patients.

Author

Scrascia F, Curcio G, Ursini F, Trotta L, Quintiliani L, Migliore S, Altamura C, Pitocco F, Altavilla R, Melgari JM, Quattrocchi CC, and Vernieri F

Subjects
Aged, Aged, 80 and over, Alzheimer Disease psychology, Cognition physiology, Cognition Disorders diagnosis, Cognition Disorders physiopathology, Cognition Disorders psychology, Cognitive Dysfunction psychology, Female, Humans, Male, Middle Aged, Neuropsychological Tests, Single-Blind Method, Alzheimer Disease diagnosis, Alzheimer Disease physiopathology, Cognitive Dysfunction diagnosis, Cognitive Dysfunction physiopathology, Diffusion Tensor Imaging methods, Electroencephalography methods
Abstract

Magnetic resonance (MR) diffusion tensor imaging (DTI) can detect microstructural alterations by means of fractional anisotropy (FA) in patients with dementia, also in relation to cognitive status. The present study aimed at investigating the possible relation among white matter damage in DTI, quantitative electroencephalography (EEG) spectral power, and cognitive status in Alzheimer's disease (AD) and mild cognitive impairment (MCI) patients. Forty-seven subjects (8 moderate AD, 18 mild AD, 12 MCI, and 9 healthy controls) underwent brain MR, neuropsychological evaluation, and resting EEG recording. A progressive increase of EEG delta and theta spectral power was observed from controls to patients, mainly in more anterior areas, with a parallel widespread decrease of beta power. Moreover, a progressive decrease of FA from controls to patients in frontal areas and in the corpus callosum (genu) was observed. Correlation analyses indicated convergence among EEG rhythms changes, DTI values, and cognitive status mainly over anterior areas. The decrease of FA values and EEG spectral power changes might represent markers of neurodegenerative dysfunction, possibly preceding macrostructural atrophy.

Published
2014
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33. The Italian Alzheimer's Disease Neuroimaging Initiative (I-ADNI): validation of structural MR imaging.

Author

Cavedo E, Redolfi A, Angeloni F, Babiloni C, Lizio R, Chiapparini L, Bruzzone MG, Aquino D, Sabatini U, Alesiani M, Cherubini A, Salvatore E, Soricelli A, Vernieri F, Scrascia F, Sinforiani E, Chiarati P, Bastianello S, Montella P, Corbo D, Tedeschi G, Marino S, Baglieri A, De Salvo S, Carducci F, Quattrocchi CC, Cobelli M, and Frisoni GB

Subjects
Analysis of Variance, Female, Humans, Image Processing, Computer-Assisted, Italy, Male, Neuropsychological Tests, Reproducibility of Results, Alzheimer Disease pathology, Brain pathology, Magnetic Resonance Imaging
Abstract

Background: The North American Alzheimer's Disease Neuroimaging Initiative (NA-ADNI) was the first program to develop standardized procedures for Alzheimer's disease (AD) imaging biomarker collection., Objective: We describe the validation of acquisition and processing of structural magnetic resonance imaging (MRI) in different Italian academic AD clinics following NA-ADNI procedures., Methods: 373 patients with subjective memory impairment (n = 12), mild cognitive impairment (n = 92), Alzheimer's dementia (n = 253), and frontotemporal dementia (n = 16) were enrolled in 9 Italian centers. 22 cognitively healthy elderly controls were also included. MRI site qualification and MP-RAGE quality assessment was applied following the NA-ADNI procedures. Indices of validity were: (i) NA-ADNI phantom's signal-to-noise and contrast-to-noise ratio, (ii) proportion of images passing quality control, (iii) comparability of automated intracranial volume (ICV) estimates across scanners, and (iv) known-group validity of manual hippocampal volumetry., Results: Results on Phantom and Volunteers scans showed that I-ADNI acquisition parameters were comparable with those one of the ranked-A ADNI scans. Eighty-seven percent of I-ADNI MPRAGE images were ranked of high quality in comparison of 69% of NA-ADNI. ICV showed homogeneous variances across scanners except for Siemens scanners at 3.0 Tesla (p = 0.039). A significant difference in hippocampal volume was found between AD and controls on 1.5 Tesla scans (p < 0.001), confirming known group validity test., Conclusion: This study has provided standardization of MRI acquisition and imaging marker collection across different Italian clinical units and equipment. This is a mandatory step to the implementation of imaging biomarkers in clinical routine for early and differential diagnosis.

Published
2014
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34. ATP7B variants as modulators of copper dyshomeostasis in Alzheimer's disease.

Author

Squitti R, Polimanti R, Siotto M, Bucossi S, Ventriglia M, Mariani S, Vernieri F, Scrascia F, Trotta L, and Rossini PM

Subjects
Adenosine Triphosphatases genetics, Aged, Aged, 80 and over, Alzheimer Disease genetics, Amyloid beta-Peptides metabolism, Apolipoprotein E4 genetics, Case-Control Studies, Cation Transport Proteins genetics, Copper-Transporting ATPases, Female, Genotype, Homeostasis, Humans, Male, Models, Neurological, Adenosine Triphosphatases physiology, Alzheimer Disease metabolism, Cation Transport Proteins physiology, Ceruloplasmin analysis, Copper blood, Polymorphism, Single Nucleotide
Abstract

To understand the role of the key copper-regulating gene, ATP7B, in copper dyshomeostasis associated with Alzheimer's disease (AD), we analyzed the serum levels of copper, ceruloplasmin and 'free' (i.e., non-ceruloplasmin bound) copper in 399 patients with AD and 303 elderly healthy controls. We also performed analyses of informative variants of ATP7B. AD patients had higher levels of copper and free copper than controls. Individuals with free copper levels higher than 1.6 μmol/L (the upper value of the normal reference range) were more frequent among cases (p < 0.001). Among these individuals, those who were carriers of the ATP7B variants accounted for a large proportion of the free copper levels, specifically in the AD group (p < 0.01). Our results suggest the existence of a 'copper dysfunction' phenotype of sporadic AD which has a genetic basis. They also suggest that free copper is a risk factor for this disorder, modulating additional pathways leading to the disease cascade.

Published
2013
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35. Resting state cortical electroencephalographic rhythms are related to gray matter volume in subjects with mild cognitive impairment and Alzheimer's disease.

Author

Babiloni C, Carducci F, Lizio R, Vecchio F, Baglieri A, Bernardini S, Cavedo E, Bozzao A, Buttinelli C, Esposito F, Giubilei F, Guizzaro A, Marino S, Montella P, Quattrocchi CC, Redolfi A, Soricelli A, Tedeschi G, Ferri R, Rossi-Fedele G, Ursini F, Scrascia F, Vernieri F, Pedersen TJ, Hardemark HG, Rossini PM, and Frisoni GB

Subjects
Aged, Atrophy pathology, Atrophy physiopathology, Electroencephalography, Female, Humans, Magnetic Resonance Imaging, Male, Nerve Degeneration pathology, Nerve Degeneration physiopathology, Rest physiology, Alzheimer Disease pathology, Alzheimer Disease physiopathology, Brain pathology, Brain physiopathology, Cognitive Dysfunction pathology, Cognitive Dysfunction physiopathology
Abstract

Cortical gray matter volume and resting state cortical electroencephalographic rhythms are typically abnormal in subjects with amnesic mild cognitive impairment (MCI) and Alzheimer's disease (AD). Here we tested the hypothesis that in amnesic MCI and AD subjects, abnormalities of EEG rhythms are a functional reflection of cortical atrophy across the disease. Eyes-closed resting state EEG data were recorded in 57 healthy elderly (Nold), 102 amnesic MCI, and 108 AD patients. Cortical gray matter volume was indexed by magnetic resonance imaging recorded in the MCI and AD subjects according to Alzheimer's disease neuroimaging initiative project (http://www.adni-info.org/). EEG rhythms of interest were delta (2-4 Hz), theta (4-8 Hz), alpha1 (8-10.5 Hz), alpha2 (10.5-13 Hz), beta1 (13-20 Hz), beta2 (20-30 Hz), and gamma (30-40 Hz). These rhythms were indexed by LORETA. Compared with the Nold, the MCI showed a decrease in amplitude of alpha 1 sources. With respect to the Nold and MCI, the AD showed an amplitude increase of delta sources, along with a strong amplitude reduction of alpha 1 sources. In the MCI and AD subjects as a whole group, the lower the cortical gray matter volume, the higher the delta sources, the lower the alpha 1 sources. The better the score to cognitive tests the higher the gray matter volume, the lower the pathological delta sources, and the higher the alpha sources. These results suggest that in amnesic MCI and AD subjects, abnormalities of resting state cortical EEG rhythms are not epiphenomena but are strictly related to neurodegeneration (atrophy of cortical gray matter) and cognition., (Copyright © 2011 Wiley Periodicals, Inc.)

Published
2013
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36. Intronic rs2147363 variant in ATP7B transcription factor-binding site associated with Alzheimer's disease.

Author

Bucossi S, Polimanti R, Ventriglia M, Mariani S, Siotto M, Ursini F, Trotta L, Scrascia F, Callea A, Vernieri F, and Squitti R

Subjects
Aged, Aged, 80 and over, Binding Sites genetics, Copper-Transporting ATPases, Female, Gene Frequency, Genetic Association Studies, Genotype, Humans, Linkage Disequilibrium, Male, Adenosine Triphosphatases genetics, Alzheimer Disease genetics, Cation Transport Proteins genetics, Genetic Predisposition to Disease genetics, Introns genetics, Polymorphism, Single Nucleotide genetics
Abstract

Copper homeostasis abnormalities have been shown to be associated with Alzheimer's disease (AD), possibly by accelerating amyloid-β toxicity and plaque formation. The ATP7B gene plays a key role in controlling body copper balance. Our previous studies showed an association between ATP7B variants and AD risk. Among these variants, an intronic single nucleotide polymorphism, rs2147363, was associated with AD risk. In order to understand this intronic association, we screened a population of 286 AD patients and 283 healthy controls, and verified the presence of other functional coding variants in linkage disequilibrium (LD). Then we searched for a regulatory function region close to rs2147363. An LD analysis revealed the presence of an LD between rs2147363 and a Wilson's disease-causing variant, rs7334118. However, this mutation did not explain the observed genetic association. Conversely, in silico analyses of rs2147363 functionality highlighted that this variant is located in a binding site of a transcription factor, and is, consequently, associated with regulatory function. These data suggest that the genetic variation in cis-regulatory elements located in non-coding regions can have a role in determining ATP7B functionality and account for some of the AD missing hereditability.

Published
2013
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37. Dorsolateral medullary ischemic infarction causing autonomic dysfunction and headache: a case report.

Author

Altavilla R, Landi D, Altamura C, Bussone G, Maggio P, Corbetto M, Scrascia F, and Vernieri F

Subjects
Aged, Anti-Inflammatory Agents, Non-Steroidal therapeutic use, Autonomic Nervous System Diseases drug therapy, Brain Infarction pathology, Brain Ischemia pathology, Follow-Up Studies, Headache drug therapy, Humans, Male, Autonomic Nervous System Diseases etiology, Brain Infarction etiology, Brain Ischemia complications, Headache etiology, Medulla Oblongata pathology
Abstract

Stroke can present, among other signs, with headache. Here, we describe the case of a man suffering from severe orbitary pain and autonomic dysfunction secondary to dorsolateral medullary ischemia. The anatomical relationship between lesion and symptomatology could be an indirect sign of hypothalamospinal tract involvement in the genesis of autonomic dysfunction and headache resembling a trigeminal autonomic cephalalgia.

Published
2012
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38. Transcranial magnetic stimulation studies in Alzheimer's disease.

Author

Guerra A, Assenza F, Bressi F, Scrascia F, Del Duca M, Ursini F, Vollaro S, Trotta L, Tombini M, Chisari C, and Ferreri F

Abstract

Although motor deficits affect patients with Alzheimer's disease (AD) only at later stages, recent studies demonstrated that primary motor cortex is precociously affected by neuronal degeneration. It is conceivable that neuronal loss is compensated by reorganization of the neural circuitries, thereby maintaining motor performances in daily living. Effectively several transcranial magnetic stimulation (TMS) studies have demonstrated that cortical excitability is enhanced in AD and primary motor cortex presents functional reorganization. Although the best hypothesis for the pathogenesis of AD remains the degeneration of cholinergic neurons in specific regions of the basal forebrain, the application of specific TMS protocols pointed out a role of other neurotransmitters. The present paper provides a perspective of the TMS techniques used to study neurophysiological aspects of AD showing also that, based on different patterns of cortical excitability, TMS may be useful in discriminating between physiological and pathological brain aging at least at the group level. Moreover repetitive TMS might become useful in the rehabilitation of AD patients. Finally integrated approaches utilizing TMS together with others neuro-physiological techniques, such as high-density EEG, and structural and functional imaging as well as biological markers are proposed as promising tool for large-scale, low-cost, and noninvasive evaluation of at-risk populations.

Published
2011
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39. Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.

Author

Bucossi S, Mariani S, Ventriglia M, Polimanti R, Gennarelli M, Bonvicini C, Pasqualetti P, Scrascia F, Migliore S, Vernieri F, Rossini PM, and Squitti R

Abstract

Nonceruloplasmin-bound copper ("free") is reported to be elevated in Alzheimer's disease (AD). In Wilson's disease (WD) Cu-ATPase 7B protein tightly controls free copper body levels. To explore whether the ATP7B gene harbours susceptibility loci for AD, we screened 180 AD chromosomes for sequence changes in exons 2, 5, 8, 10, 14, and 16, where most of the Mediterranean WD-causing mutations lie. No WD mutation, but sequence changes corresponding to c.1216 T>G Single-Nucleotide Polymorphism (SNP) and c.2495 A>G SNP were found. Thereafter, we genotyped 190 AD patients and 164 controls for these SNPs frequencies estimation. Logistic regression analyses revealed either a trend for the c.1216 SNP (P = .074) or a higher frequency for c.2495 SNP of the GG genotype in patients, increasing the probability of AD by 74% (P = .028). Presence of the GG genotype in ATP7B c.2495 could account for copper dysfunction in AD which has been shown to raise the probability of the disease.

Published
2011
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