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1. Does Deep Brain Stimulation worsen cognitive decline in GBA-Parkinson Disease patients? A longitudinal study of the Italian PARKNET cohort

Author

AVENALI, M., primary, Artusi, C.A., additional, Cilia, R., additional, Giannini, G., additional, Cuconato, G., additional, Pasquini, C., additional, Albanese, A., additional, Antonini, A., additional, Bentivoglio, A.R., additional, Bove, F., additional, Bozzali, M., additional, Calandra-Buonaura, G., additional, Carelli, V., additional, Francesco, C., additional, Cocco, A., additional, Cogiamanian, F., additional, Colucci, F., additional, Cortelli, P., additional, Di Fonzo, A., additional, D'Onofrio, V., additional, Eleopra, R., additional, Elia, A.E., additional, Fioravanti, V., additional, Golfrè Andreasi, N., additional, Guerra, A., additional, Ledda, C., additional, Liccari, M., additional, Longo, C., additional, Lopiano, L., additional, Malaguti, M., additional, Mameli, F., additional, Minardi, R., additional, Monfrini, E., additional, Pacchetti, C., additional, Piano, C., additional, Rizzone, M., additional, Romito, L., additional, Sambati, L., additional, Spagnolo, F., additional, Tassorelli, C., additional, Valentino, F., additional, Valzania, F., additional, Zangaglia, R., additional, Zibetti, M., additional, and Valente, E.M., additional

Published
2024
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2. Determination of Ambroxol Levels in Plasma and Cerebrospinal Fluid by Online Solid-Phase Extraction Coupled with Liquid Chromatography-Tandem Mass Spectrometry in GBA-Parkinson Disease Patients

Author

Franco, V., primary, Palmisani, M., additional, Colucci, F., additional, De Micco, R., additional, Aloisio, S., additional, Cazzaniga, F., additional, Cerri, S., additional, Cuconato, G., additional, Devigili, G., additional, Franciotta, D., additional, Eleopra, R., additional, Elia, A., additional, Garavaglia, B., additional, Andreasi, N. Golfrè, additional, Invernizzi, F., additional, Leta, V., additional, Moda, F., additional, Mitrotti, P., additional, Picascia, M., additional, Reale, C., additional, Romito, L., additional, Siciliano, M., additional, Stiuso, R., additional, Tessitore, A., additional, Valente, E.M., additional, Avenali, M., additional, and Cilia, R., additional

Published
2024
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3. Results by motor cortex stimulation in treatment of focal dystonia, Parkinson’s disease and post-ictal spasticity. The experience of the Italian Study Group of the Italian Neurosurgical Society

Author

Pagni, Carlo Alberto, Albanese, A., Bentivoglio, A., Broggi, G., Canavero, S., Cioni, B., Rose, M. D., Simone, C. D., Franzini, A., Lavano, A., Landi, A., Meglio, M., Modugno, M., Romanelli, L., Romito, L. M., Sturiale, C., Valzania, F., Zeme, S., Zenga, F., Steiger, H. -J., editor, Chiu, Wen-Ta, editor, Chiang, Yung-Hsiao, editor, Kao, Ming-Chien, editor, Hung, Ching-Chang, editor, Lin, Shinn-Zong, editor, Chen, Han-Jung, editor, Tang, Simon F. T., editor, and Hoffer, Barry J., editor

Published
2008
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8. GBA-Related Parkinson’s Disease:Dissection of Genotype–Phenotype Correlates in a LargeItalian Cohort

Author

Petrucci, S., Ginevrino, M., Trezzi, I., Monfrini, E., Ricciardi, L., Albanese, A., Avenali, M., Barone, P., Bentivoglio, A. R., Bonifati, V., Bove, F., Bonanni, L., Brusa, L., Cereda, C., Cossu, G., Criscuolo, C., Dati, G., De Rosa, A., Eleopra, R., Fabbrini, G., Fadda, L., Garbellini, M., Minafra, B., Onofrj, M., Pacchetti, C., Palmieri, I., Pellecchia, M. T., Petracca, M., Picillo, M., Pisani, A., Vallelunga, A., Zangaglia, R., Di Fonzo, A., Morgante, F., Valente, E. M., Altavista, M. C., Amboni, M., Ardolino, G., Berardelli, A., Cogiamanian, F., Colosimo, C., Costanti, D., De Michele, G., Bonaventura, C. D., Di Lazzaro, G., Di Lazzaro, V., Emanuele Elia, A., Erro, R., Ferrazzano, G., Guerra, A., Ialongo, T., Malaguti, M. C., Melis, M., Moro, E., Oppo, V., Ottaviani, D., Peluso, S., Quadri, M. L., Romito, L. M., Sarchioto, M., Schirinzi, T., Sorbera, C., Stefani, A., Thomas, A., Valente, M. L., Volpe, G, ITA-GENE-PD Study, Group., Petrucci, S, Ginevrino, M, Trezzi, I, Monfrini, E, Ricciardi, L, Albanese, A, Avenali, M, Barone, P, Bentivoglio, Ar, Bonifati, V, Bove, F, Bonanni, L, Brusa, L, Cereda, C, Cossu, G, Criscuolo, C, Dati, G, De Rosa, A, Eleopra, R, Fabbrini, G, Fadda, L, Garbellini, M, Minafra, B, Onofrj, M, Pacchetti, C, Palmieri, I, Pellecchia, Mt, Petracca, M, Picillo, M, Pisani, A, Vallelunga, A, Zangaglia, R, Di Fonzo, A, Morgante, F, Valente, Em, Clinical Genetics, Erasmus MC other, and Radiology & Nuclear Medicine

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, Genotype, genotype–phenotype correlates, Disease, Settore MED/05, Genotype phenotype, dementia, GBA, impulsive–compulsive behavior, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Internal medicine, medicine, Dementia, Humans, Sanger sequencing, business.industry, Dissection, Parkinson Disease, medicine.disease, Phenotype, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Glucosylceramidase, Italy, Mutation, Neurology, Cohort, symbols, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

BACKGROUND Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. OBJECTIVES We determined the frequency of GBA-related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. METHODS Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β-glucocerebrosidase activity was measured. The Kaplan-Meier method and Cox proportional hazard regression models were performed. RESULTS Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA-PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA-PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA-PD had the lowest β-glucocerebrosidase activity. CONCLUSIONS GBA-PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles. © 2020 International Parkinson and Movement Disorder Society.

Published
2020

12. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study

Author

Carecchio, Miryam, Invernizzi, F., Gonzàlez-Latapi, P., Panteghini, C., Zorzi, G., Romito, L., Leuzzi, V., Galosi, S., Reale, C., Zibordi, F., Joseph, A.P., Topf, Maya, Piano, C., Bentivoglio, A.R., Girotti, F., Morana, P., Morana, B., Kurian, M.A., Garavaglia, B., Mencacci, N.E., Lubbe, S.J., and Nardocci, N.

Subjects
bcs
Abstract

Background: Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia. \ud Objective: To define the frequency of KMT2B mutations in a cohort of dystonic patients aged less than 18 years at onset, the associated clinical and radiological phenotype, and the natural history of disease. \ud Methods: Whole-exome sequencing or customized gene panels were used to screen a cohort of sixty-five patients who had previously tested negative for all other known dystonia-associated genes.\ud Results: We identified fourteen patients (21.5%) carrying KMT2B variants, of which one was classified as a Variant of Unknown Significance (VUS). We also identified two additional patients carrying pathogenic mutations in GNAO1 and ATM. Overall, we established a definitive genetic diagnosis in 23% of cases. We observed a spectrum of clinical manifestations in KMT2B variant carriers, ranging from generalized dystonia to short stature or intellectual disability alone, even within the same family. In 78.5% of cases, dystonia involved the lower limbs at onset, with later caudo-cranial generalization. Eight patients underwent pallidal Deep Brain Stimulation with a median decrease of BFMDRS-M score of 38.5% in the long term. We also report four asymptomatic carriers, suggesting that some KMT2B mutations may be associated with incomplete disease penetrance. \ud Conclusions: KMT2B mutations are frequent in childhood-onset dystonia and cause a complex neurodevelopmental syndrome often featuring growth retardation and intellectual disability as additional phenotypic features. A dramatic and long-lasting response to Deep Brain Stimulation is characteristic of DYT-KMT2B dystonia.

Published
2019

15. Bilateral deep brain stimulation in Parkinsonʼs disease: a multicentre study with 4 years follow-up

Author

Rodriguez-Oroz, M. C., Obeso, J. A., Lang, A. E., Houeto, J.-L., Pollak, P., Rehncrona, S., Kulisevsky, J., Albanese, A., Volkmann, J., Hariz, M. I., Quinn, N. P., Speelman, J. D., Guridi, J., Zamarbide, I., Gironell, A., Molet, J., Pascual-Sedano, B., Pidoux, B., Bonnet, A. M., Agid, Y., Xie, J., Benabid, A.-L., Lozano, A. M., Saint-Cyr, J., Romito, L., Contarino, M. F., Scerrati, M., Fraix, V., and Van Blercom, N.

Published
2005

21. Are the predictors of hookah smoking differ from those of cigarette smoking? report of a population-based study in Shiraz, Iran, 2010

Author

Gholamreza Abdollahifard, Vakili, V., Danaei, M., Askarian, M., Romito, L., and Palenik, C. J.

Subjects
Shiraz, lcsh:R, Hookah, lcsh:Medicine, Iran, tobacco
Abstract

Background: The aim of this study was to determine the prevalence of tobacco use and effect of lifestyle factors on cigarette and hookah use among adult residents of Shiraz, Iran. Methods: In 2010, 1,000 participants were recruited in a multistage, random sampling cross-sectional population-based survey. Results: Response rate was 98%. Prevalence of cigarette smoking was 9.7%. Among cigarette users, 12.6% reported smoking 2 years. Almost half of those surveyed (48.9%) smoked 20 cpd. Almost a quarter (20.4%) of the cigarette smokers tried to quit in the past year. Being male, married, aged 37-54, having higher perceived levels of stress, a non-manual occupation, and sedentary lifestyle were positively associated with cigarette smoking. Manual labor occupations, housewife/jobless status, and going frequently to restaurants were positive predictors of hookah smoking. Conclusions: Compared to cigarettes, hookah smoking was more prevalent among Iranian adults. Approximately, the prevalence of hookah smoking in women is the same as men, whereas cigarette use was 31 times more common in men. Cigarette and hookah smoking were associated with less healthy lifestyle habits in both men and women.

Published
2013

28. Results by motor cortex stimulation in treatment of focal dystonia, Parkinson’s disease and post-ictal spasticity. The experience of the Italian Study Group of the Italian Neurosurgical Society

Author

Pagni, Carlo Alberto, primary, Albanese, A., additional, Bentivoglio, A., additional, Broggi, G., additional, Canavero, S., additional, Cioni, B., additional, Rose, M. D., additional, Simone, C. D., additional, Franzini, A., additional, Lavano, A., additional, Landi, A., additional, Meglio, M., additional, Modugno, M., additional, Romanelli, L., additional, Romito, L. M., additional, Sturiale, C., additional, Valzania, F., additional, Zeme, S., additional, and Zenga, F., additional

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35. Abnormal tactile temporal discrimination in psychogenic dystonia

Author

Morgante, F., primary, Tinazzi, M., additional, Squintani, G., additional, Martino, D., additional, Defazio, G., additional, Romito, L., additional, Albanese, A., additional, Di Matteo, A., additional, Quartarone, A., additional, Girlanda, P., additional, Fiorio, M., additional, and Berardelli, A., additional

Published
2011
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37. W2.3 Somatosensory dysfunction in psychogenic dystonia

Author

Morgante, F., primary, Fiorio, M., additional, Squintani, G., additional, Romito, L., additional, Albanese, A., additional, Martino, D., additional, Defazio, G., additional, Di Matteo, A., additional, Quartarone, A., additional, Girlanda, P., additional, Berardelli, A., additional, and Tinazzi, M., additional

Published
2011
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45. Deep brain stimulation as a functional scalpel.

Author

Steiger, H. -J., Chang, Jin Woo, Katayama, Yoichi, Yamamoto, Takamitsu, Broggi, G., Franzini, A., Tringali, G., Ferroli, P., Marras, C., Romito, L., and Maccagnano, E.

Abstract

Since 1995, at the Istituto Nazionale Neurologico "Carlo Besta" in Milan (INNCB,) 401 deep brain electrodes were implanted to treat several drug-resistant neurological syndromes (Fig. 1). More than 200 patients are still available for follow-up and therapeutical considerations. In this paper our experience is reviewed and pioneered fields are highlighted. The reported series of patients extends the use of deep brain stimulation beyond the field of Parkinson's disease to new fields such as cluster headache, disruptive behaviour, SUNCt, epilepsy and tardive dystonia. The low complication rate, the reversibility of the procedure and the available image guided surgery tools will further increase the therapeutic applications of DBS. New therapeutical applications are expected for this functional scalpel. [ABSTRACT FROM AUTHOR]

Published
2006
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47. Blood contamination of used dental anesthetic cartridges.

Author

Romito, L., Svetanoff, E., and Palenik, C.J.

Subjects
OPERATIVE dentistry, DENTAL anesthesia, BLOOD, INFECTIOUS disease transmission, DIAGNOSTIC reagents & test kits, MEDICAL wastes, CONTINUING education units, MEDICAL equipment contamination, EQUIPMENT & supplies
Abstract

This study sought to determine the levels of blood contamination found in and/or on used dental anesthetic cartridges and to measure antibacterial effects after exposure to a local anesthetic solution. The study analyzed a total of 1000 used cartridges from an oral surgery clinic, containing 1 of 3 anesthetic types. Blood testing included visual observations (using a dissecting microscope) and chemical analyses. From each cartridge, either 0.5 ml of residual anesthetic solution or a combination of anesthetic solution plus added saline was removed. Using reagent strip dipsticks, the solutions were analyzed for minute amounts of blood. Visual examinations were scored on a positive or negative scale. In addition, 4 types of bacteria were mixed with lidocaine or phosphate buffered saline (PBS) for up to 30 days, and viable cell counts decreases were measured for the 2 solutions. A majority of the cartridges evaluated contained lidocaine, and while only 7 of the 1000 cartridges examined contained visible blood, the reagent strips detected blood in more than 76% of all cartridges. Lidocaine and PBS produced similar bacterial death rates. The authors concluded that blood contamination levels in the absence of pronounced antibacterial activity indicate that dental anesthetic cartridges could be considered a potential type of regulated medical waste. [ABSTRACT FROM AUTHOR]

Published
2013

49. Bilateral high frequency subthalamic stimulation in Parkinson's disease: long-term neurological follow-up

Author

Romito, L. M., Scerrati, M., Contarino, M. F., Iacoangeli, M., Anna Rita Bentivoglio, Albanese, A., and Neurology

Subjects
Male, Time Factors, Treatment Outcome, Subthalamic Nucleus, Humans, Electric Stimulation Therapy, Female, Parkinson Disease, Prostheses and Implants, Middle Aged, Neuropsychological Tests, Follow-Up Studies
Abstract

AIM: High frequency stimulation of the subthalamic nucleus (STN) is gaining recognition as a new symptomatic treatment for Parkinson's disease (PD). The first available long-term observations show the stability of the efficacy of this procedure in time. METHODS: Quadripolar leads were implanted bilaterally under stereotactic conditions in the STN of patients with advanced PD. High frequency stimulation was applied for 24 hours a day. Following implant, antiparkinsonian medication was reduced as much as possible and stimulation was gradually increased. The patients were evaluated in the practically defined "off" condition and in the "on" condition using the unified PD rating scale (UPDRS) and the Schwab & England scale. Neuropsychological testing was performed before and after the implant. Thirty-three patients were followed up for at least 3 months and 13 among them until 36 months. RESULTS: The patients had a mean age of 56.8+/-7.1 years and a mean disease duration of 13.8+/-5.5 years; they were followed-up for an average of 25.7+/-13.5 months. At the time of the last available visit, the stimulation amplitude was 2.47+/-0.40 V (the total energy delivered averaged 1.57+/-0.8 microW). The levodopa-equivalent daily dose was reduced by 56.2% (p

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