Publications by authors named "Nicola Modugno"

80 Publications

Effects of Prismatic Lenses on Lateral Axial Dystonia in Parkinson's Disease: A Pilot Study.

Innov Clin Neurosci 2021 Jan-Mar;18(1-3):39-42. Epub 2021 Jan 1.

Dr. Meglio is with IRCCS Neuromed in the Unit of Neuro-Ophthalmology in Pozzilli, Italy; he's a PhD student in Neuroscience at University of Rome Tor Vergata in Rome, Italy.

In Parkinson's disease (PD), postural abnormalities such as lateral axial dystonia (LAD) are relatively common. Evidence suggests that both peripheral and central mechanisms contribute to these postural abnormalities. We previously reported an improvement in LAD following the use of prisms in two PD patients. Here, we further investigate the effects of prismatic lenses in a case series of nine patients with PD and LAD. Nine patients underwent an orthoptic evaluation and were provided with prismatic lenses. Patients were evaluated at baseline and after one and three months of permanent prismatic lens use and again re-evaluated one month after the discontinuation of prismatic lens use. We found a linear relationship between disease duration and LAD severity. Compared to basal measurements, we observed a slight improvement in LAD. Furthermore, we found a significant reduction in self-perceived back pain due to the use of prismatic lenses. There was no significant association between the individual effects of prismatic lenses in patients with PD and their baseline LAD or other clinical and demographic features (all P>0.05). The present pilot study provides novel data on the possible effectiveness of prismatic lenses for LAD treatment in PD patients.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213334PMC
January 2021

Identification of sixteen novel candidate genes for late onset Parkinson's disease.

Mol Neurodegener 2021 Jun 21;16(1):35. Epub 2021 Jun 21.

IRCCS Istituto Neurologico Mediterraneo Neuromed, Pozzilli, Isernia, Italy.

Background: Parkinson's disease (PD) is a neurodegenerative movement disorder affecting 1-5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early phase. Here we report a multi-stage procedure to identify candidate genes likely involved in the etiopathogenesis of PD.

Methods: The study includes a discovery stage based on the analysis of whole exome data from 26 dominant late onset PD families, a validation analysis performed on 1542 independent PD patients and 706 controls from different cohorts and the assessment of polygenic variants load in the Italian cohort (394 unrelated patients and 203 controls).

Results: Family-based approach identified 28 disrupting variants in 26 candidate genes for PD including PARK2, PINK1, DJ-1(PARK7), LRRK2, HTRA2, FBXO7, EIF4G1, DNAJC6, DNAJC13, SNCAIP, AIMP2, CHMP1A, GIPC1, HMOX2, HSPA8, IMMT, KIF21B, KIF24, MAN2C1, RHOT2, SLC25A39, SPTBN1, TMEM175, TOMM22, TVP23A and ZSCAN21. Sixteen of them have not been associated to PD before, were expressed in mesencephalon and were involved in pathways potentially deregulated in PD. Mutation analysis in independent cohorts disclosed a significant excess of highly deleterious variants in cases (p = 0.0001), supporting their role in PD. Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in the 26 genes may predict PD occurrence in about 20% of patients, both familial and sporadic cases, with high specificity (> 93%; p = 4.4 × 10). Moreover, our data highlight the fact that the genetic landmarks of late onset PD does not systematically differ between sporadic and familial forms, especially in the case of small nuclear families and underline the importance of rare variants in the genetics of sporadic PD. Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment.

Conclusions: Besides confirming the extreme genetic heterogeneity of PD, these data provide novel insights into the genetic of the disease and may be relevant for its prediction, diagnosis and treatment.
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http://dx.doi.org/10.1186/s13024-021-00455-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215754PMC
June 2021

An attempt to dissect a peripheral marker based on cell pathology in Parkinson's disease.

J Neural Transm (Vienna) 2021 Jun 9. Epub 2021 Jun 9.

I.R.C.C.S Neuromed, Via Atinense 18, 86077, Pozzilli, IS, Italy.

Peripheral markers in Parkinson's disease (PD) represent a hot issue to provide early diagnosis and assess disease progression. The gold standard marker of PD should feature the same reliability as the pathogenic alteration, which produces the disease itself. PD is foremost a movement disorder produced by a loss of nigrostriatal dopamine innervation, in which striatal dopamine terminals are always markedly reduced in PD patients to an extent, which never overlaps with controls. Similarly, a reliable marker of PD should possess such a non-overlapping feature when compared with controls. In the present study, we provide a novel pathological hallmark, the autophagosome, which in each PD patient was always suppressed compared with each control subject. Autophagosomes were counted as microtubule-associated proteins 1A/1B light chain 3B (LC3)-positive vacuoles at ultrastructural morphometry within peripheral (blood) blood mononuclear cells (PBMC). This also provides the gold standard to assess the autophagy status. Since autophagy may play a role in the pathogenesis of PD, autophagosomes may be a disease marker, while participating in the biology of the disease. Stoichiometric measurement of α-synuclein despite significantly increased in PD patients, overlapped between PD and control patients. Although the study need to be validated in large populations, the number of autophagy vacuoles is neither related with therapy (the amount was similarly suppressed in a few de novo patients), nor the age in PD or controls.
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http://dx.doi.org/10.1007/s00702-021-02364-6DOI Listing
June 2021

Analysis of Genetic and Non-genetic Predictors of Levodopa Induced Dyskinesia in Parkinson's Disease.

Front Pharmacol 2021 29;12:640603. Epub 2021 Apr 29.

IRCCS Neuromed, Pozzilli, Italy.

Levodopa (L-Dopa), representing the therapeutic gold standard for the treatment of Parkinson disease (PD), is associated with side effects like L-Dopa induced dyskinesia (LID). Although several non-genetic and genetic factors have been investigated for association with LID risk, contrasting results were reported and its genetic basis remain largely unexplored. In an Italian PD cohort (N = 460), we first performed stepwise multivariable Cox Proportional Hazard regressions modeling LID risk as a function of gender, PD familiarity, clinical subtype, weight, age-at-onset (AAO) and years-of-disease (YOD), L-Dopa dosage, severity scores, and scales assessing motor (UPDRS-III), cognitive (MoCA), and non-motor symptoms (NMS). Then we enriched the resulting model testing two variants-rs356219 and D4S3481-increasing the expression of the gene, previously suggested as a potential mechanism of LID onset. To account for more complex (non-linear) relations of these variables with LID risk, we built a survival random forest (SRF) algorithm including all the covariates mentioned above. Among tested variables (N = 460 case-complete, 211 LID events; total follow-up 31,361 person-months, median 61 months), disease duration showed significant association ( < 0.005), with 6 (3-8)% decrease of LID risk per additional YOD. Other nominally significant associations were observed for gender-with women showing a 39 (5-82)% higher risk of LID-and AAO, with 2 (0.3-3)% decrease of risk for each year increase of PD onset. The SRF algorithm confirmed YOD as the most prominent feature influencing LID risk, with a variable importance of about 8% in the model. In genetic models, no statistically significant effects on incident LID risk was observed. This evidence supports a protective effect of late PD onset and gender (men) against LID risk and suggests a new independent protective factor, YOD. Moreover, it underlines the importance of personalized therapeutic protocols for PD patients in the future.
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http://dx.doi.org/10.3389/fphar.2021.640603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8118664PMC
April 2021

Spread of segmental/multifocal idiopathic adult-onset dystonia to a third body site.

Parkinsonism Relat Disord 2021 Jun 12;87:70-74. Epub 2021 May 12.

IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

Background: Adult-onset focal dystonia can spread to involve one, or less frequently, two additional body regions. Spread of focal dystonia to a third body site is not fully characterized.

Materials And Methods: We retrospectively analyzed data from the Italian Dystonia Registry, enrolling patients with segmental/multifocal dystonia involving at least two parts of the body or more. Survival analysis estimated the relationship between dystonia features and spread to a third body part.

Results: We identified 340 patients with segmental/multifocal dystonia involving at least two body parts. Spread of dystonia to a third body site occurred in 42/241 patients (17.4%) with focal onset and 10/99 patients (10.1%) with segmental/multifocal dystonia at onset. The former had a greater tendency to spread than patients with segmental/multifocal dystonia at onset. Gender, years of schooling, comorbidity, family history of dystonia/tremor, age at dystonia onset, and disease duration could not predict spread to a third body site. Among patients with focal onset in different body parts (cranial, cervical, and upper limb regions), there was no association between site of focal dystonia onset and risk of spread to a third body site.

Discussion And Conclusion: Spread to a third body site occurs in a relative low percentage of patients with idiopathic adult-onset dystonia affecting two body parts. Regardless of the site of dystonia onset and of other demographic/clinical variables, focal onset seems to confer a greater risk of spread to a third body site in comparison to patients with segmental/multifocal dystonia at onset.
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http://dx.doi.org/10.1016/j.parkreldis.2021.04.022DOI Listing
June 2021

Functional motor phenotypes: to lump or to split?

J Neurol 2021 May 7. Epub 2021 May 7.

IRCCS Mondino Foundation, Pavia, Italy.

Introduction: Functional motor disorders (FMDs) are usually categorized according to the predominant phenomenology; however, it is unclear whether this phenotypic classification mirrors the underlying pathophysiologic mechanisms.

Objective: To compare the characteristics of patients with different FMDs phenotypes and without co-morbid neurological disorders, aiming to answer the question of whether they represent different expressions of the same disorder or reflect distinct entities.

Methods: Consecutive outpatients with a clinically definite diagnosis of FMDs were included in the Italian registry of functional motor disorders (IRFMD), a multicenter data collection platform gathering several clinical and demographic variables. To the aim of the current work, data of patients with isolated FMDs were extracted.

Results: A total of 176 patients were included: 58 with weakness, 40 with tremor, 38 with dystonia, 23 with jerks/facial FMDs, and 17 with gait disorders. Patients with tremor and gait disorders were older than the others. Patients with functional weakness had more commonly an acute onset (87.9%) than patients with tremor and gait disorders, a shorter time lag from symptoms onset and FMDs diagnosis (2.9 ± 3.5 years) than patients with dystonia, and had more frequently associated functional sensory symptoms (51.7%) than patients with tremor, dystonia and gait disorders. Patients with dystonia complained more often of associated pain (47.4%) than patients with tremor. No other differences were noted between groups in terms of other variables including associated functional neurological symptoms, psychiatric comorbidities, and predisposing or precipitating factors.

Conclusions: Our data support the evidence of a large overlap between FMD phenotypes.
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http://dx.doi.org/10.1007/s00415-021-10583-wDOI Listing
May 2021

Osteoporotic fracture and conservative management in Parkinson's disease and Pisa syndrome: Case report.

J Bodyw Mov Ther 2021 Jan 10;25:170-173. Epub 2020 Nov 10.

INM, Neuromed, Pozzilli, Via Atinense, Pozilli, Isernia, Italy.

Osteoporotic fractures (OF) may occur without major trauma or injury. This case reports present a spine OF in Parkinson's disease (PD) and Pisa syndrome (PS). A 75-years-old woman diagnosed with PD for 19 years and PS has been developed. She recently has acute and severe low back pain. No recent injury or fall. After clinical examination and radiograph imaging, moderate wedge compression OF at L2 was revealed without a spinal cord or nerve compression. A program of conservative treatment was applied include antiosteoporotic supplementary, 6-days of bed rest, spine orthosis, and 10-weeks of exercises. The study adapted to use the following outcomes: visual analogues scale for low back pain, wall goniometer for lateral trunk flexion, and Oswesrty disability index for disability. After the intervention, the outcomes were improved as these values: visual analogues scales 7 points, lateral trunk flexion 20°, and Oswesrty disability index 60%. The case report suggests that the posture deformity as PS in PD may increase the risk of spine OF. The conservative treatment could be beneficial and safe for the OF in PD and PS. Further studies are required to confirm the role of PD postural deformities in OF and the effectiveness of therapeutic interventions.
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http://dx.doi.org/10.1016/j.jbmt.2020.11.011DOI Listing
January 2021

Levodopa-carbidopa intrajejunal infusion in Parkinson's disease: untangling the role of age.

J Neurol 2021 May 22;268(5):1728-1737. Epub 2020 Dec 22.

Movement Disorders and Neurophysiology Unit, Department of Neuroscience, AO Brotzu, Piazzale Ricchi 1, Cagliari, 09134, Italy.

Objectives: Levodopa-Carbidopa Intrajejunal gel (LCIG) infusion is an effective intervention for people with advanced Parkinson's disease (PD). Although age may not be a limiting factor for LCIG implant, no data are available on late elderly PD (LE-PD) subjects. In this cross-sectional, we aimed to demonstrate if older age may impact on quality of life (QoL), motor and non-motor symptoms severity, and profile of side effects in PD treated with LCIG.

Methods: Out of 512 PD subjects treated with LCIG at 9 Italian PD centers, we selected 25 LE-PD defined as age ≥ 80 years at last follow-up who were available to attend the study visit. Twenty-five PD patients (Control-PD, defined as age < 75 years at last follow-up) matched to LE-PD by disease and LCIG duration served as control group. The following motor and non-motor variables were ascertained: quality of life (PDQ-8), time spent in ON, wearing-off Questionnaire, Unified PD Rating Scale, freezing of gait questionnaire, Parkinson's disease sleep scale-2, Non Motor Symptoms Scale (NMSS), and MOCA.

Results: No statistically significant differences were found between LE-PD and Control-PD on PDQ-8 and several motor and non-motor variables. LE-PD had less frequent and milder impulsive-compulsive behaviors and milder dyskinesia. At multivariable regression, worse quality of life was associated with UPDRS-III and NMSS scores but not to age at study visit and age at LICG implant. Rate of adverse effects was similar in both groups. Drop-out rate calculated in the whole PD cohort was comparable between the two groups.

Conclusion: Our data provide evidence that valuable LCIG infusion might be achieved in late elderly PD.
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http://dx.doi.org/10.1007/s00415-020-10356-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068706PMC
May 2021

Functional motor disorders associated with other neurological diseases: Beyond the boundaries of "organic" neurology.

Eur J Neurol 2021 May 2;28(5):1752-1758. Epub 2021 Jan 2.

Movement Disorder Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Background And Purpose: The aims of this study were to describe the clinical manifestations of functional motor disorders (FMDs) coexisting with other neurological diseases ("comorbid FMDs"), and to compare comorbid FMDs with FMDs not overlapping with other neurological diseases ("pure FMDs").

Methods: For this multicenter observational study, we enrolled outpatients with a definite FMD diagnosis attending 25 tertiary movement disorder centers in Italy. Each patient with FMDs underwent a detailed clinical assessment including screening for other associated neurological conditions. Group comparisons (comorbid FMDs vs. pure FMDs) were performed in order to compare demographic and clinical variables. Logistic regression models were created to estimate the adjusted odds ratios (95% confidence intervals) of comorbid FMDs (dependent variable) in relation to sociodemographic and clinical characteristics (independent variables).

Results: Out of 410 FMDs, 21.7% of patients (n = 89) had comorbid FMDs. The most frequent coexisting neurological diseases were migraine, cerebrovascular disease and parkinsonism. In the majority of cases (86.5%), FMDs appeared after the diagnosis of a neurological disease. Patients with comorbid FMDs were older, and more frequently had tremor, non-neurological comorbidities, paroxysmal non-epileptic seizures, major depressive disorders, and benzodiazepine intake. Multivariate regression analysis showed that diagnosis of comorbid FMDs was more likely associated with longer time lag until the final diagnosis of FMD, presence of tremor and non-neurological comorbidities.

Conclusions: Our findings highlight the need for prompt diagnosis of FMDs, given the relatively high frequency of associated neurological and non-neurological diseases.
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http://dx.doi.org/10.1111/ene.14674DOI Listing
May 2021

Impact of Supporting People with Advanced Parkinson's Disease on Carer's Quality of Life and Burden.

Neuropsychiatr Dis Treat 2020 2;16:2899-2912. Epub 2020 Dec 2.

Department of Neuroscience "Rita Levi Montalcini" University of Torino, Azienda Ospedaliero-Universitaria Città Della Salute e Della Scienza di Torino, Torino, Italy.

Purpose: The aim of this study was to assess the burden and the quality of life (QoL) perceived by caregivers assisting advanced Parkinson's disease (PD) patients.

Patients And Methods: Consecutive advanced PD patients treated with levodopa/carbidopa intestinal gel (LCIG) or continuous subcutaneous apomorphine infusion (CSAI) or care as usual (CU) and their care partners were recruited during routine visits according to a cross-sectional design. Caregiver's distress was assessed by Zarit Burden Interview (ZBI) and a QoL survey to evaluate and understand the burden experienced by care partners during family and working activities.

Results: A total of 126 patients (53 LCIG, 19 CSAI and 54 CU) and their care partners were enrolled. The ZBI score boxplot showed that LCIG and CU populations have a similar distribution (ZBI inter-quartile range [IQR] values respectively 18-42 for LCIG and 19-43 for CU group), while the CSAI group has a wider score range (IQR 16-52). Caregivers assisting patients in treatment with LCIG have more time to perform family or household duties (p=0.0022), or to engage in leisure activities (p=0.0073) compared to CU, while no difference was found when compared to CSAI group. Approximately 50% of the care partners showed mood changes in the last 6 months and LCIG and CSAI had less impact on caregiver's mood compared to CU. Patients treated with LCIG were more independent in taking a bath or shower without assistance and were more able to move and walk without assistance.

Conclusion: Care partners of advanced PD patients treated with device-aided therapies have more time for their own life and a better perception of their QoL with a tendency to an improvement of mood compared with those of patients treated with CU.
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http://dx.doi.org/10.2147/NDT.S256217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719333PMC
December 2020

Clinical Correlates of Functional Motor Disorders: An Italian Multicenter Study.

Mov Disord Clin Pract 2020 Nov 22;7(8):920-929. Epub 2020 Sep 22.

Department of Systems Medicine University of Rome Tor Vergata Rome Italy.

Background: Functional motor disorders (FMDs) are abnormal movements that are significantly altered by distractive maneuvers and are incongruent with movement disorders seen in typical neurological diseases.

Objective: The objectives of this article are to (1) describe the clinical manifestations of FMDs, including nonmotor symptoms and occurrence of other functional neurological disorders (FND); and (2) to report the frequency of isolated and combined FMDs and their relationship with demographic and clinical variables.

Methods: For this multicenter, observational study, we enrolled consecutive outpatients with a definite diagnosis of FMDs attending 25 tertiary movement disorders centers in Italy. Each patient underwent a detailed clinical evaluation with a definition of the phenotype and number of FMDs (isolated, combined) and an assessment of associated neurological and psychiatric symptoms.

Results: Of 410 FMDs (71% females; mean age, 47 ± 16.1 years) the most common phenotypes were weakness and tremor. People with FMDs had higher educational levels than the general population and frequent nonmotor symptoms, especially anxiety, fatigue, and pain. Almost half of the patients with FMDs had other FNDs, such as sensory symptoms, nonepileptic seizures, and visual symptoms. Patients with combined FMDs showed a higher burden of nonmotor symptoms and more frequent FNDs. Multivariate regression analysis showed that a diagnosis of combined FMDs was more likely to be delivered by a movement disorders neurologist. Also, FMD duration, pain, insomnia, diagnosis of somatoform disease, and treatment with antipsychotics were all significantly associated with combined FMDs.

Conclusions: Our findings highlight the need for multidimensional assessments in patients with FMDs given the high frequency of nonmotor symptoms and other FNDs, especially in patients with combined FMDs.
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http://dx.doi.org/10.1002/mdc3.13077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7604660PMC
November 2020

Motor and Sensory Features of Cervical Dystonia Subtypes: Data From the Italian Dystonia Registry.

Front Neurol 2020 26;11:906. Epub 2020 Aug 26.

Fondazione Policlinico Universitario A. Gemelli - IRCCS, Rome, Italy.

Cervical dystonia (CD) is one of the most common forms of adult-onset isolated dystonia. Recently, CD has been classified according to the site of onset and spread, in different clinical subgroups, that may represent different clinical entities or pathophysiologic subtypes. In order to support this hypothesis, in this study we have evaluated whether different subgroups of CD, that clinically differ for site of onset and spread, also imply different sensorimotor features. Clinical and demographic data from 842 patients with CD from the Italian Dystonia Registry were examined. Motor features (head tremor and tremor elsewhere) and sensory features (sensory trick and neck pain) were investigated. We analyzed possible associations between motor and sensory features in CD subgroups [focal neck onset, no spread (FNO-NS); focal neck onset, segmental spread (FNO-SS); focal onset elsewhere with segmental spread to neck (FOE-SS); segmental neck involvement without spread (SNI)]. In FNO-NS, FOE-SS, and SNI subgroups, head tremor was associated with the presence of tremor elsewhere. Sensory trick was associated with pain in patients with FNO-NS and with head tremor in patients with FNO-SS. The frequent association between head tremor and tremor elsewhere may suggest a common pathophysiological mechanism. Two mechanisms may be hypothesized for sensory trick: a gating mechanism attempting to reduce pain and a sensorimotor mechanism attempting to control tremor.
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http://dx.doi.org/10.3389/fneur.2020.00906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493687PMC
August 2020

Therapeutic interventions for Pisa syndrome in idiopathic Parkinson's disease. A Scoping Systematic Review.

Clin Neurol Neurosurg 2020 11 18;198:106242. Epub 2020 Sep 18.

INM, Neuromed, Pozzilli, Via Atinense, Pozilli, Isernia, Italy.

Pisa syndrome (PS) is a postural deformity characterized by marked and reversible lateral trunk flexion. PS can be seen in Parkinson's disease (PD) and several neurodegenerative diseases. A scoping systematic review was conducted to view the therapeutic interventions for PS in PD, their effectiveness, outcome measurements, and related cofactors. Databases and manual searches were performed. Studies that evaluate the effect of interventions on PS were included. Data were extracted and categorized by the main applied therapeutic intervention. A total of 19 published and 2 unpublished studies met the inclusion criteria. Wall and traditional goniometer, kinematic analysis, and clinical observations were used to detect PS. The included studies applied the following therapeutic protocols: Deep brain stimulation (DBS), Botulinum toxin injection, posture exercises, lidocaine injection, oculomotor correction, and spinal cord stimulation. The outcomes measurements of the included studies were linked to International Classification of Functioning, Disability and Health (ICF) model. The therapeutic interventions variously improve PS outcomes at short and long-term follow-up. The interventions did not report side effects or adverse events except DBS. PS severity was related to the DBS voltage amount in one study, and one participant in another study relapsed due to DBS. There are missing reported data in terms of participants' characteristics, medication status, and side effects. The current evidence shows the available interventions for PS, outcomes measurements, and related cofactors. The interventions may be safe and beneficial for PS. Further powerful studies are required.
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http://dx.doi.org/10.1016/j.clineuro.2020.106242DOI Listing
November 2020

Risk factors of Parkinson disease: Simultaneous assessment, interactions, and etiologic subtypes.

Neurology 2020 11 17;95(18):e2500-e2508. Epub 2020 Sep 17.

From IRCCS Neuromed (D.B., A.F., S.P., M.D.L., N.M., G.F., A.B.), Pozzilli, IS; Department of Basic Medical Sciences, Neuroscience and Sense Organs (R.P.), "Aldo Moro," University of Bari; Department of Human Neurosciences (D.B., M.C., G.F., A.B.), Sapienza, University of Rome; Department of Neurosciences, Biomedicine and Movement Sciences (F.M., M.T.), University of Verona; Neurology Unit (C.D.), ASST Pavia-Ospedale Civile di Voghera; Department of Medical Sciences and Public Health (T.E., P.S., G.D.), University of Cagliari, Monserrato; and Department G.F. Ingrassia (C.T., A.N.), Neuroscience Section, University of Catania, Italy.

Objective: To perform a simultaneous evaluation of potential risk/protective factors of Parkinson disease (PD) to identify independent risk/protective factors, to assess interaction among factors, and to determine whether identified risk factors predict etiologic subtypes of PD.

Methods: We designed a large case-control study assessing 31 protective/risk factors of PD, including environmental and lifestyle factors, comorbid conditions, and drugs. The study enrolled 694 patients with PD and 640 healthy controls from 6 neurologic centers. Data were analyzed by logistic regression models, additive interaction models, and cluster analysis.

Results: The simultaneous assessment of 31 putative risk/protective factors of PD showed that only coffee consumption (odds ratio [OR] 0.6; 95% confidence interval [CI] 0.4-0.9), smoking (OR 0.7, 95% CI 0.6-0.9), physical activity (OR 0.8, 95% CI 0.7-0.9), family history of PD (OR 3.2, 95% CI 2.2-4.8), dyspepsia (OR 1.8, 95% CI 1.3-2.4), and exposure to pesticides (OR 2.3, 95% CI1.3-4.2), oils (OR 5.6, 95% CI 2.3-13.7), metals (OR 2.8, 95% CI 1.5-5.4), and general anesthesia (OR 6.1, 95% CI 2.9-12.7) were independently associated with PD. There was no evidence of interaction among risk/protective factors, but cluster analysis identified 4 subtypes with different risk factor profiles. In group 1, all patients had a family history of PD, while dyspepsia or exposure to toxic agents was present in 30% of patients. In groups 2 and 3, a family history of PD was lacking, while exposure to toxic agents (group 2) and dyspepsia (group 3) played major roles. Group 4 consisted of patients with no risk factors.

Conclusions: This study demonstrated that 9 factors independently modify PD risk by coexisting in the same patient rather than interacting with others. Our study suggests the need for future preventive strategies aimed at reducing the coexistence of different risk factors within the same participant.
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http://dx.doi.org/10.1212/WNL.0000000000010813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7682833PMC
November 2020

Demographic and clinical determinants of neck pain in idiopathic cervical dystonia.

J Neural Transm (Vienna) 2020 10 26;127(10):1435-1439. Epub 2020 Aug 26.

IRCCS Neuromed, Pozzilli, Italy.

Cervical dystonia is associated with neck pain in a significant proportion of cases, but the mechanisms underlying pain are largely unknown. In this exploratory study, we compared demographic and clinical variables in cervical dystonia patients with and without neck pain from the Italian Dystonia Registry. Univariable and multivariable logistic regression analysis indicated a higher frequency of sensory trick and a lower educational level among patients with pain.
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http://dx.doi.org/10.1007/s00702-020-02245-4DOI Listing
October 2020

Should We Consider Deep Brain Stimulation Discontinuation in Late-Stage Parkinson's Disease?

Mov Disord 2020 08 25;35(8):1379-1387. Epub 2020 May 25.

Department of Neuroscience "Rita Levi Montalcini,", University of Torino, Turin, Italy.

Background: Subthalamic deep brain stimulation (STN-DBS) effects may decrease with Parkinson's disease (PD) progression. There is no indication if, when, and how to consider the interruption of DBS treatment in late-stage PD. The objective of the current study was to investigate the percentage of "poor stimulation responders" among late-stage PD patients for elaborating an algorithm to decide whether and when DBS discontinuation may be considered.

Methods: Late-stage PD patients (Hoehn Yahr stage ≥4 and Schwab and England Scale <50 in medication on/stimulation on condition) treated with STN-DBS for at least 5 years underwent a crossover, double-blind, randomized evaluation of acute effects of stimulation. Physicians, caregivers, and patients were blinded to stimulation conditions. Poor stimulation responders (MDS-UPDRS part III change <10% between stimulation on/medication off and stimulation off/medication off) maintained the stimulation off/medication on condition for 1 month for open-label assessment.

Results: Thirty-six patients were included. The acute effect of stimulation was significant (17% MDS-UPDRS part III), with 80% of patients classified as "good responders." Seven patients were classified as "poor stimulation responders," and the stimulation was switched off, but in 4 cases the stimulation was switched back "on" because of worsening of parkinsonism and dysphagia with a variable time delay (up to 10 days). No serious adverse effects occurred.

Conclusions: The vast majority of late-stage PD patients (92%) show a meaningful response to STN-DBS. Effects of stimulation may take days to disappear after its discontinuation. We present a safe and effective decisional algorithm that could guide physicians and caregivers in making challenging therapeutic decisions in late-stage PD. © 2020 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.28091DOI Listing
August 2020

Long-term effectiveness of levodopa-carbidopa intestinal gel on motor and non-motor symptoms in advanced Parkinson's disease: results of the Italian GLORIA patient population.

Neurol Sci 2020 Oct 28;41(10):2929-2937. Epub 2020 Apr 28.

Department of Neuroscience, University of Torino, AOU Città della Salute e della Scienza, Torino, Italy.

Introduction: The GLORIA registry included 375 advanced Parkinson's disease (PD) patients and evaluated the efficacy and safety of a 24-month levodopa-carbidopa intestinal gel (LCIG) treatment in routine medical care. This analysis focuses on the Italian population, 60 patients treated with LCIG in 7 specialised PD care centres.

Methods: Hours of "Off" and "On" time were assessed with a modified version of the Unified Parkinson's Disease Rating Scale (UPDRS) part IV items 39 and 32. Motor fluctuations, dyskinesia, non-motor symptoms, quality of life and safety were evaluated.

Results: Overall, 42 (70%) out of 60 patients completed the registry. LCIG treatment reduced "Off" time (- 3.3 ± 2.7 h at month 24 (M24), P < 0.0001), increased "On" time with dyskinesia (- 2.6 ± 5.2 h at M12, P = 0.0160), and improved UPDRS II and UPDRS III total scores at M24 (- 4.5 ± 10.6, P = 0.0333 and - 4.9 ± 11.7, P = 0.0229, respectively), Non-Motor Symptom Scale (NMSS) total score (- 21.8 ± 28.5, P < 0.0001) and Parkinson's Disease Questionnaire-8 item (PDQ-8) total score (- 12.5 ± 23.9, P = 0.0173) versus previous oral therapy. Adverse drug reactions (ADR) possibly or probably related to treatment were reported in 16 (28.6%) patients. Decreased weight (7.1%), polyneuropathy (7.1%) and abdominal pain (5.4%) were the most frequent ADRs while device malfunction (5.4%) and medical device change (5.4%) were the most reported device complaints.

Conclusions: LCIG improved motor fluctuations, non-motor symptoms and quality of life over 24 months while tolerability was consistent with the established safety profile.
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http://dx.doi.org/10.1007/s10072-020-04401-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479015PMC
October 2020

The TANDEM investigation: efficacy and tolerability of levodopa-carbidopa intestinal gel in (LCIG) advanced Parkinson's disease patients.

J Neural Transm (Vienna) 2020 06 24;127(6):881-891. Epub 2020 Mar 24.

Department of Neuroscience "Rita Levi-Montalcini", University of Torino, Turin, Italy.

The TANDEM investigation was carried out in 17 Italian Movement Disorder centers on behalf of a joint initiative of neurologist members of the Italian Academy for Parkinson's disease and Movement Disorders (LIMPE-DISMOV Academy) and gastroenterologist members of the Italian Society of Digestive Endoscopy (SIED) to evaluate the efficacy and tolerability of levodopa-carbidopa intestinal gel (LCIG) in patients with advanced Parkinson's disease (PD) in routine medical care. Motor scores in "ON" and OFF" state (UPDRS-III), complications of therapy (UPDRS-IV), activities of daily living, sleep disorders and quality of life were evaluated at baseline and at two follow-up assessments (FUV1 and FUV2) within the initial 12-month LCIG treatment. In 159 patients (55% males) with a mean age of 69.1 ± 6.6 years and a diagnosis of PD since 13.6 ± 5.5 years, the UPDRS-III total score (in "OFF") decreased from baseline (45.8 ± 13.2) to FUV1 (41.0 ± 17.4; p < 0.001) and FUV2 (40.5 ± 15.5; p < 0.001), the UPDRS-IV total score decreased from baseline (8.8 ± 2.9) to FUV1 (5.1 ± 3.4; p < 0.001) and FUV2 (5.5 ± 3.2; p < 0.001). The percentage of patients exhibiting freezing, dystonia, gait/walking disturbances, falls, pain and sleep disorders was significantly reduced. Twenty-eight device complications were reported and 11 (6.9%) patients prematurely terminated the study. LCIG after 12-month treatment led to sustained improvement of time spent in "OFF", complications of therapy, PD-associated symptoms and sleep disorders. LCIG tolerability was consistent with the established safety profile of LCIG.
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http://dx.doi.org/10.1007/s00702-020-02175-1DOI Listing
June 2020

Whole Exome Sequencing Study of Parkinson Disease and Related Endophenotypes in the Italian Population.

Front Neurol 2019 10;10:1362. Epub 2020 Jan 10.

IRCCS Neuromed, Pozzilli, Italy.

Parkinson Disease (PD) is a complex neurodegenerative disorder characterized by large genetic heterogeneity and missing heritability. Since the genetic background of PD can partly vary among ethnicities and neurological scales have been scarcely investigated in a PD setting, we performed an exploratory Whole Exome Sequencing (WES) analysis of 123 PD patients from mainland Italy, investigating scales assessing motor (UPDRS), cognitive (MoCA), and other non-motor symptoms (NMS). We performed variant prioritization, followed by targeted association testing of prioritized variants in 446 PD cases and 211 controls. Then we ran Exome-Wide Association Scans (EWAS) within sequenced PD cases ( = 113), testing both motor and non-motor PD endophenotypes, as well as their associations with Polygenic Risk Scores (PRS) influencing brain subcortical volumes. We identified a variant associated with PD, rs201330591 in (5q13; alternative T allele: OR [CI] = 8.16[1.08; 61.52], FDR = 0.048), which was not replicated in an independent cohort of European ancestry (1,148 PD cases, 503 controls). In the EWAS, polygenic analyses revealed statistically significant multivariable associations of amygdala- [β(SE) = -0.039(0.013); FDR = 0.039] and caudate-PRS [0.043(0.013); 0.028] with motor symptoms. All subcortical PRSs in a multivariable model notably increased the variance explained in motor (adjusted-R = 38.6%), cognitive (32.2%) and other non-motor symptoms (28.9%), compared to baseline models (~20%). Although, the small sample size warrants further replications, these findings suggest shared genetic architecture between PD symptoms and subcortical structures, and provide interesting clues on PD genetic and neuroimaging features.
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http://dx.doi.org/10.3389/fneur.2019.01362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965311PMC
January 2020

Early-stage Parkinson's patients show selective impairment in reactive but not proactive inhibition.

Mov Disord 2020 03 21;35(3):409-418. Epub 2019 Nov 21.

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Neuromed, Pozzilli (IS), Italy.

Background: It is well known that a deficit in inhibitory control is a hallmark of Parkinson's disease (PD). However, inhibition is not a unitary construct, and it is unclear whether patients in the early stage of the disease (Hoehn and Yahr stage 1) exhibit a deficit in outright stopping (reactive inhibition), a deficit in the ability to shape their response strategies according to the context (proactive inhibition), or both.

Objective: We assessed whether PD patients at Hoehn and Yahr stage 1 show a global or selective impairment in inhibitory control. As it has been suggested that inhibition relies upon a right-lateralized pathway, we tested whether left-dominant PD patients suffered from a more severe deficit in this executive function than right-dominant PD patients.

Methods: Via a reaching stop-signal task, we assessed both proactive and reactive inhibition in 17 left-dominant PD and 17 right-dominant PD patients and in 24 age-matched participants.

Results: We found that reactive inhibition was more impaired in PD patients than in healthy participants. However, proactive inhibition was not affected. Furthermore, we found no differences between left-dominant PD and right-dominant PD patients.

Conclusions: For the first time, we found evidence for a deficit of reactive inhibition in the early-stage PD patients in the absence of evidence for deficits in proactive inhibition. These findings have clinical relevance as they provide critical insights on the time course of the disease. In addition, we confirmed, on a population of PD patients at Hoehn and Yahr stage 1, previous results showing that the onset of the disease does not affect inhibition. © 2019 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.27920DOI Listing
March 2020

Deep brain stimulation in Parkinson's disease: A multicentric, long-term, observational pilot study.

J Neurol Sci 2019 Oct 21;405:116411. Epub 2019 Aug 21.

"Aldo Ravelli" Center for Neurotechnology and Experimental Brain Therapeutics, University of Milan and Fondazione IRCCS Ca' Granda - Ospedale Maggiore, Milan, Italy; Department of Health Sciences, University of Milan, San Paolo Hospital, Milan, Italy. Electronic address:

Background: The impact of deep brain stimulation (DBS) on cognitive and urinary disorders, falls, and eventually hospitalizations and mortality in Parkinson's disease (PD) is still debated.

Objective: We compared the rates of dementia, mild cognitive impairment (MCI), urinary incontinence, nocturia, falls, hospitalizations, and mortality in a cohort of PD patients undergoing DBS with a cohort of medically-treated patients chosen as controls.

Methods: We conducted a retrospective pilot study in six Italian DBS centers. 91 PD patients receiving DBS and 91 age- and gender-matched controls receiving the best medical treatment alone with a minimum follow-up of one year were enrolled. Clinical data were collected from baseline to the last follow-up visit using an ad-hoc developed web-based system.

Results: The risk of dementia was similar in the two groups while patients in the surgical cohort had lower rates of MCI, urinary incontinence, nocturia, and falls. In contrast, the risk of hospital admissions related to PD was higher in the surgical cohort. However, when excluding hospitalizations related to DBS surgery, the difference between the two cohorts was not significant. The surgical cohort had a lower number of hospitalizations not related to PD. The risk of death was similar in the two groups.

Conclusion: Despite a higher risk of hospitalization, patients receiving DBS had a lower rate of MCI, urinary incontinence, nocturia and falls, without evidence of an increased risk of dementia and mortality. Although these findings need to be confirmed in prospective studies, they seem to suggest that DBS may play a significant role in the management of non-motor symptoms and common complications of advanced PD.
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http://dx.doi.org/10.1016/j.jns.2019.07.029DOI Listing
October 2019

Validation of the Italian version of the PSP Quality of Life questionnaire.

Neurol Sci 2019 Dec 26;40(12):2587-2594. Epub 2019 Jul 26.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, 20122, Milan, Italy.

Background: Progressive supranuclear palsy (PSP) is a rare rapidly progressive, neurodegenerative disease characterized by falls and ocular movement disturbances. The use of health-related quality of life (HR-QoL) measures allows assessing changes in health status induced by therapeutic interventions or disease progress in neurodegenerative diseases. The PSP-QoL is a 45-item, self-administered questionnaire designed to evaluate HR-QoL in PSP.

Methods And Results: Here, the PSP-QoL was translated into Italian and validated in 190 PSP (96 women and 94 men; mean age ± standard deviation, 72 ± 6.5; mean disease duration, 4.2 ± 2.3) patients diagnosed according to the Movement Disorder Society criteria and recruited in 16 third level movement disorders centers participating in the Neurecanet project. The mean PSP-QoL total score was 77.8 ± 37 (physical subscore, 46.5 ± 18.7; mental subscore, 33.6 ± 19.2). The internal consistency was high (Cronbach's alpha = 0.954); corrected item-total correlation was > 0.40 for the majority of items. The significant and moderate correlation of the PSP-QoL with other HR-QoL measures as well as with motor and disability assessments indicated adequate convergent validity of the scale. Gender and geographic location presented a significant impact on the PSP-QoL in our sample with women and patients from the South of Italy scoring higher than their counterparts.

Conclusion: In conclusion, the Italian version of the PSP-QoL is an easy, reliable and valid tool for assessment of HR-QoL in PSP.
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http://dx.doi.org/10.1007/s10072-019-04010-2DOI Listing
December 2019

Correction to: Continuous subcutaneous apomorphine infusion in Parkinson's disease: causes of discontinuation and subsequent treatment strategies.

Neurol Sci 2019 09;40(9):1925-1926

Unit of Neurology, IRCCS Neuromed, Via Atinense 18, 86077, Pozzilli, IS, Italy.

The published version of this article unfortunately contained a mistake in Table 2. CGI-S and CGI-I values has been interchanged. The Table is corrected here.
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http://dx.doi.org/10.1007/s10072-019-03972-7DOI Listing
September 2019

Validation of the Italian version of carers' quality-of-life questionnaire for parkinsonism (PQoL Carer) in progressive supranuclear palsy.

Neurol Sci 2019 Oct 12;40(10):2163-2169. Epub 2019 Jun 12.

IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, 20122, Milan, Italy.

Progressive supranuclear palsy (PSP) is a rare, rapidly progressive, neurodegenerative disease characterized by falls and ocular movement disturbances. Caring for a partner or relative who suffers from PSP entails a strenuous and demanding task, usually lasting for years that affects carers' everyday life routines and emotional and social well-being. The 26-item Parkinsonism Carers QoL (PQoL Carer) is a self-administered, concise instrument evaluating the quality of life of caregivers of patients with atypical parkinsonism (both PSP and multiple system atrophy). Here, the PQoL Carer was translated into Italian and validated in 162 carers of PSP patients (54.3% women; mean age (standard deviation), 62.4 (15.4)) diagnosed according to the Movement Disorder Society criteria and recruited in 16 third-level movement disorders centers participating in the Neurecanet project. The mean PQoL total score was 40.66 ± 19.46. The internal consistency was excellent (Cronbach's alpha = 0.941); corrected item-total correlation was > 0.40 for all the items. A correlation with other health-related quality of life measures as well as with behavioral assessments was shown suggesting adequate convergent validity of the scale. PQoL also correlated with patients' severity of disease. The discriminant validity of the scale was evidenced by its capacity to differentiate between carers with varying levels of self-reported health (p < 0.001). In conclusion, the Italian version of the PQoL Carer is an easy, consistent, and valid tool for the assessment of the quality of life in carers of PSP patients.
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http://dx.doi.org/10.1007/s10072-019-03944-xDOI Listing
October 2019

Motor and non-motor outcomes in patients with advanced Parkinson's disease treated with levodopa/carbidopa intestinal gel: final results of the GREENFIELD observational study.

J Neurol 2019 Sep 27;266(9):2164-2176. Epub 2019 May 27.

Parkinson and Movement Disorders Unit, Department of Neuroscience, University of Padua, Padua, Italy.

Introduction: The GREENFIELD observational study assessed the effect of levodopa/carbidopa intestinal gel (LCIG) on motor and non-motor symptoms, and the related impact on patient quality of life and caregiver burden up to 8 years.

Methods: Final results of a large Italian cohort of patients who started LCIG in routine care between 2007 and 2014 are presented. Comparison between baseline (before LCIG) and follow-up visits on yearly basis (visit 2/3) is reported. Primary endpoint was Unified Parkinson's Disease Rating Scale (UPDRS-IV) Item 39; secondary endpoints were UPDRS I and II, dyskinesia items, PD Quality of Life Questionnaire-39, Parkinson's Disease Sleep Scale-2, Gait and Falls Questionnaire, Questionnaire on Impulsive Disorders, and Relative Stress Scale.

Results: Overall, 145 patients from 14 centers were assessed with a mean time since LCIG start of 2.8 ± 1.7 years at visit 2. The mean UPDRS-IV item 39 score showed significant reductions compared to baseline (mean score 2.0 ± 0.81) at visit 2 (mean score 0.9 ± 0.69; - 55%; p < 0.001) and at visit 3 (mean score 1.0 ± 0.75; - 50%; p < 0.001). At visit 3, significant reductions were observed for dyskinesia duration score (- 28%; p < 0.001), dyskinesia disability (- 40%; p < 0.001), and painful dyskinesia (- 50%; p < 0.001). Overall, 40 (27.6%) patients experienced 49 serious adverse events which were considered related to PEG/J procedure or to device in 16.3% of the cases.

Conclusions: The results of this study support the long-term efficacy of LCIG on PD symptoms as well as on activities of daily living. The adverse events were consistent with the established LCIG safety profile.
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http://dx.doi.org/10.1007/s00415-019-09337-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687881PMC
September 2019

Continuous subcutaneous apomorphine infusion in Parkinson's disease: causes of discontinuation and subsequent treatment strategies.

Neurol Sci 2019 Sep 20;40(9):1917-1923. Epub 2019 May 20.

Unit of Neurology, IRCCS Neuromed, Via Atinense 18, 86077, Pozzilli, IS, Italy.

Continuous subcutaneous apomorphine infusion (CSAI) is a well-recognized therapeutic option for the management of motor fluctuations in Parkinson's disease (PD), although clinical experience suggests that most patients discontinue CSAI after a variable amount of time due to several causes and circumstances. The objective of the present study was to evaluate the reasons of CSAI discontinuation and to investigate which treatment was adopted afterwards. Two independent raters retrospectively reviewed the electronic medical record of 114 patients treated with CSAI for at least 6 months. The records were reviewed regarding efficacy, safety, and evolution of CSAI treatment. Most of PD patients on CSAI had a significant improvement in their clinical condition. Lack of improvement of dyskinesia was the most frequent causes of treatment discontinuation. The second reason for CSAI discontinuation was cognitive deterioration. At CSAI discontinuation, younger patients were more likely to undergo deep brain stimulation (DBS), while older patients and patients with cognitive impairment were more likely switched to oral therapy alone (OTA). CSAI is an effective treatment that unfortunately must be discontinued in a great number of patients with advanced PD. As older age is the main limiting factor for accessing second-level therapies at CSAI discontinuation, CSAI treatment should not be postponed to older age. CSAI might be considered a good first-line and fast strategy in patients undergoing rapid deterioration of their quality of life while waiting for DBS or levodopa/carbidopa intestinal gel therapy.
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http://dx.doi.org/10.1007/s10072-019-03920-5DOI Listing
September 2019

Cerebral glucose metabolism in idiopathic REM sleep behavior disorder is different from tau-related and α-synuclein-related neurodegenerative disorders: A brain [18F]FDG PET study.

Parkinsonism Relat Disord 2019 07 23;64:97-105. Epub 2019 Mar 23.

Sleep Medicine Centre, Department of Systems Medicine, University of Rome 'Tor Vergata", Rome, Italy.

Introduction: Several longitudinal studies revealed that patients affected by idiopathic REM behavior disorder (iRBD) trend to convert to α-synucleinopathies at follow-up, although the time and direction of conversion is currently unpredictable. This study aimed at evaluating brain glucose metabolism, measured by [18F]FDG-PET, in patients affected by iRBD and compared to Parkinson's Disease (PD), Lewy Body Dementia (DLB), Alzheimer's Disease (AD), and controls.

Methods: Differences in brain [18F]FDG uptake were analyzed using statistical parametric mapping implemented in Matlab R2012b among iRBD, PD, DLB, AD, and controls.

Results: Fifty-four iRBD, 28 PD, 10 DLB, 55 AD, and 35 controls were included in this study. iRBD patients presented an altered [18F]FDG uptake, since the increased [18F]FDG uptake in the brainstem and the reduced [18F]FDG uptake in temporal and parietal regions compared to controls. Moreover, iRBD patients showed several differences in [18F]FDG uptake than PD, DLB, or AD groups, with the main differences documented in the comparison with AD patients.

Conclusions: This study documented the alteration of brain [18F]FDG uptake in brainstem and cortical areas of iRBD patients compared to controls. Moreover, the cerebral [18F]FDG uptake of iRBD patients resulted different from that presented by AD, further supporting the hypothesis that tau-related neurodegeneration may not induce RBD manifestations. However, brain [18F]FDG uptake of iRBD patients also differed from that of DLB and PD patients. Hence, these findings further support the hypothesis that iRBD may represent a very early stage of α-synucleinopathy in which biomarkers changes already occur but not allow the prediction of phenoconversion.
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http://dx.doi.org/10.1016/j.parkreldis.2019.03.017DOI Listing
July 2019
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