Publications by authors named "Martina Petracca"

27 Publications

  • Page 1 of 1

Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.

Neurol Sci 2021 Apr 1. Epub 2021 Apr 1.

Institute of Neurology, Azienda Ospedaliero Universitaria di Cagliari, 09124, Cagliari, Italy.

Background: The frequency of Huntington's disease (HD) may vary considerably, with higher estimates in non-Asian populations. We have recently examined the prevalence of HD in the southern part of Sardinia, a large Italian Mediterranean island that is considered a genetic isolate. We observed regional microgeographic differences in the prevalence of HD across the study area similar to those recently reported in other studies conducted in European countries. To explore the basis for this variability, we undertook a study of the incidence of HD in Sardinia over a 10-year period, 2009 to 2018.

Methods: Our research was conducted in the 5 administrative areas of Sardinia island. Case patients were ascertained through multiple sources in Sardinia and Italy.

Results: During the incidence period 53 individuals were diagnosed with clinically manifested HD. The average annual incidence rate 2009-2018 was 2.92 per 10 persons-year (95% CI, 2.2 to 3.9). The highest incidence rate was observed in South Sardinia (6.3; 95% CI, 4.2-9.5). This rate was significantly higher (p<0.01) than the rates from Cagliari, Oristano, and Sassari provinces but did not significantly differ (p = 0.38) from the Nuoro rate.

Conclusions: The overall incidence of HD in Sardinia is close to the correspondent estimates in Mediterranean countries. Our findings highlight also the possibility of local microgeographic variations in the epidemiology of HD that might reflect several factors, including a possible founder effect in the rural areas of South Sardinia and Nuoro.
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http://dx.doi.org/10.1007/s10072-021-05217-yDOI Listing
April 2021

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Genes (Basel) 2021 Feb 26;12(3). Epub 2021 Feb 26.

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the and genes to search for causative mutations. Where it has been possible, muscle biopsies were obtained and thoroughly investigated with histochemical assays. A total of nine patients from five different families were diagnosed with ChAC and had mostly biallelic changes in the gene (three nonsense, two frameshift, three splicing), while three patients from a single X-linked family were diagnosed with McLeod syndrome and had a deletion in the gene. Despite a very low incidence (only one thousand cases of ChAc and a few hundred MLS cases reported worldwide), none of the 8 variants identified in our patients is shared by two families, suggesting the high genetic variability of ChAc in the Italian population. In our series, in line with epidemiological data, McLeod syndrome occurs less frequently than ChAc, although it can be easily suspected because of its X-linked mode of inheritance. Finally, histochemical studies strongly suggest that muscle pathology is not simply secondary to the axonal neuropathy, frequently seen in these patients, but primary myopathic alterations can be detected in both NA syndromes.
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http://dx.doi.org/10.3390/genes12030344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996727PMC
February 2021

COVID-19 Pandemic and Psychiatric Symptoms: The Impact on Parkinson's Disease in the Elderly.

Front Psychiatry 2020 27;11:581144. Epub 2020 Nov 27.

Dipartimento Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

The coronavirus disease 2019 (COVID-19) pandemic represents a condition of increased vulnerability and frailty for elderly patients with Parkinson's disease (PD). Social isolation may worsen the burden of the disease and specifically exacerbate psychiatric symptoms, often comorbid with PD. This study aimed at identifying risk/protective factors associated with subjective worsening of psychiatric symptomatology during the COVID-19 outbreak in a sample of individuals with PD aged 65 years or older. Patients with PD routinely followed at the outpatient clinic of Gemelli University Hospital, Rome, were assessed for subjective worsening of psychiatric symptoms through a dedicated telephone survey, after Italy COVID-19 lockdown. Patients' medical records were reviewed to collect sociodemographic and clinical data, including lifetime psychiatric symptoms and pharmacological treatment. Overall, 134 individuals were assessed and 101 (75.4%) reported lifetime psychiatric symptoms. Among those, 23 (22.8%) presented with subjective worsening of psychiatric symptomatology during the COVID-19 outbreak. In this group, the most frequent symptom was depression (82.6%), followed by insomnia (52.2%). Subjective worsening of neurological symptoms (Wald = 24.03, df = 1, = 0.001) and lifetime irritability (Wald = 6.35, df = 1, = 0.020), together with younger age (Wald = 5.06, df = 1, = 0.038) and female sex (Wald = 9.07 df = 1, = 0.007), resulted as specific risk factors for ingravescence of psychiatric presentation. Lifetime pre-existing delusions, having received antipsychotics, and not having received mood stabilizer were also associated with subjective worsening of psychiatric symptomatology due to the COVID-19 pandemic. Individuals with PD and lifetime history of psychiatric symptoms may be exposed to increased vulnerability to the stressful effect of COVID-19 outbreak. Interventions aimed at reducing irritability and mood instability might have an indirect effect on the health of patients with PD during the COVID-19 pandemic.
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http://dx.doi.org/10.3389/fpsyt.2020.581144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7728715PMC
November 2020

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

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

Prevalence of Huntington's disease in Southern Sardinia, Italy.

Parkinsonism Relat Disord 2020 11 14;80:54-57. Epub 2020 Sep 14.

Neurology Unit, Azienda Ospedaliero-Universitaria, Cagliari, Italy; Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.

Background: The frequency of Huntington's disease (HD) may vary considerably, with higher estimates in non Asian populations. In Italy, two recent studies performed in Ferrara county and Molise provided different prevalence estimates, varying from 4.2 × 10 to 10.8 × 10. Here we present a study performed in the Southern part of Sardinia, a large Italian mediterranean island that is considered a genetic isolate.

Methods: The study area included the two neighbouring counties of South Sardinia and Cagliari with 353,830 and 431,955 inhabitants respectively on December 31st, 2017 (prevalence date). Case-patients were ascertained through multiple sources in Sardinia and Italy.

Results: We identified 54 individuals with HD, of whom 47 were alive on prevalence date. The resulting prevalence rate was 5.98 × 10 in the overall study area, however with marked variations between South Sardinia and Cagliari (9.6 × 10 vs. 3.0 × 10, p = 0.02). In the two study areas, we found similar CAG repeat length in normal alleles (17.5 ± 2.1 vs. 17.7 ± 2.2, p = 0.5).

Conclusions: The overall prevalence of HD in Sardinia is close to the correspondent estimates in Europeans. Our findings also highlighted the possibility of local microgeographic variations in the epidemiology of HD.
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http://dx.doi.org/10.1016/j.parkreldis.2020.09.011DOI Listing
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

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.

Mov Disord 2020 11 13;35(11):2106-2111. Epub 2020 Jul 13.

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

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.
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http://dx.doi.org/10.1002/mds.28195DOI Listing
November 2020

An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients.

Front Neurol 2020 29;11:564. Epub 2020 May 29.

Dipartimento Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Neurological sequelae of SARS-CoV-2 infection have already been reported, but there is insufficient data about the impact of the pandemic on the management of the patients with chronic neurological diseases. We aim to analyze the effect of COVID-19 pandemic and social restriction rules on these fragile patients. Patients with chronic neurologic diseases routinely followed at the outpatient clinic of Gemelli University Hospital, Rome, were assessed for symptoms suggestive of SARS-CoV-2 infection in the pandemic period, consequences of social restrictions, and neurological disease features, concomitant medical conditions, current medical and disease-specific treatments. Data source: a dedicated telephone survey designed to encompass questions on COVID-19 symptoms and on pandemic effects in chronic neurologic conditions. Overall, 2,167 individuals were analyzed: 63 patients reported contact with COVID-19 positive cases, 41 performed the swab, and 2 symptomatic patients tested positive for COVID-19 (0.09%). One hundred fifty-eight individuals (7%) needed urgent neurological care, deferred due to the pandemic; 641 patients (30%) suspended hospital treatments, physiotherapy or other support interventions; 405 individuals (19%) reported a subjective worsening of neurological symptoms. In our population, the presence of neurological chronic diseases did not increase the prevalence of COVID-19 infection. Nevertheless, the burden of neurological disorders has been worsened by the lockdown.
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http://dx.doi.org/10.3389/fneur.2020.00564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273723PMC
May 2020

What about the caregiver? A journey into Parkinson's disease following the burden tracks.

Aging Clin Exp Res 2021 Apr 2;33(4):991-996. Epub 2020 Jun 2.

Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome, Italy.

Objectives: To investigate caregivers and patients characteristics related to different dimensions of burden in Parkinson's disease (PD).

Methods: 55 pairs of PD patients and caregivers were recruited. The burden was evaluated with the Caregiver Burden Inventory (CBI). Multivariate analysis was applied to evaluate the impact of caregivers' and patients' characteristics on the varying aspects of burden.

Results: ADL score was the dominant predictor for the total score and all dimensions of CBI, except for the social burden, which is strongly predicted by the motor severity of PD. As one can easily imagine, the Total CBI decreases as the ADL score increases.

Discussion: An increased appreciation for characteristics of caregiver burden is a fundamental aspect of the patient's global evaluation. Clinicians may need to directly probe for these factors in the caregiver as they may not be elicited routinely.
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http://dx.doi.org/10.1007/s40520-020-01600-5DOI Listing
April 2021

Botulinum toxin for the management of spasticity in multiple sclerosis: the Italian botulinum toxin network study.

Neurol Sci 2020 Oct 12;41(10):2781-2792. Epub 2020 Apr 12.

Multiple Sclerosis Clinical Care and Research Centre, Department of Neuroscience, Reproductive Sciences and Odontostomatology, "Federico II" University of Naples, Via Sergio Pansini 5, edificio 17 piano terra, 80131, Naples, Italy.

Background: Botulinum toxin (BT) is an effective and safe treatment for spasticity, with limited evidence in multiple sclerosis (MS). We aim to describe the use of BT for the management of MS spasticity in the clinical practice, its combination with other anti-spastic treatments in MS and possible MS clinical correlates.

Methods: This is a multicentre cross-sectional observational study including 386 MS patients, receiving BT for spasticity in 19 Italian centres (age 53.6 ± 10.9 years; female 228 (59.1%); disease duration 18.7 ± 9.2 years; baseline Expanded Disability Status Scale (EDSS) 6.5 (2.0-9.0)).

Results: BT was used for improving mobility (n = 170), functioning in activities of daily living (n = 56), pain (n = 56), posturing-hygiene (n = 63) and daily assistance (n = 41). BT formulations were AbobotulinumtoxinA (n = 138), OnabotulinumtoxinA (n = 133) and IncobotulinumtoxinA (n = 115). After conversion to unified dose units, higher BT dose was associated with higher EDSS (Coeff = 0.591; p < 0.001), higher modified Ashworth scale (Coeff = 0.796; p < 0.001) and non-ambulatory patients (Coeff = 209.382; p = 0.006). Lower BT dose was used in younger patients (Coeff = - 1.746; p = 0.009), with relapsing-remitting MS (Coeff = - 60.371; p = 0.012). BT dose was higher in patients with previous BT injections (Coeff = 5.167; p = 0.001), and with concomitant treatments (Coeff = 43.576; p = 0.022). Three patients (0.7%) reported on post-injection temporary asthenia/weakness (n = 2) and hypophonia (n = 1).

Conclusion: BT was used for spasticity and its consequences from the early stages of MS, without significant adverse effects. MS-specific goals and injection characteristics can be used to refer MS patients to BT treatment, to decide for the strategy of BT injections and to guide the design of future clinical trials and observational studies.
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http://dx.doi.org/10.1007/s10072-020-04392-8DOI Listing
October 2020

Safinamide as an adjunct therapy in older patients with Parkinson's disease: a retrospective study.

Aging Clin Exp Res 2020 Jul 24;32(7):1369-1373. Epub 2020 Jan 24.

Fondazione Policlinico Universitario "Agostino Gemelli"-IRCSS, Largo A Gemelli, 8, 00168, Rome, Italy.

Background: Safinamide, as a levodopa adjunct, is effective in reducing motor fluctuations in Parkinson's disease (PD) patients; however, scarce evidence is available regarding its use in older PD patients.

Aim: To evaluate the safety and tolerability of safinamide as an adjunct therapy in patients aged ≥ 60 years with advanced PD.

Methods: A retrospective study including 203 PD patients admitted to a geriatric day hospital, who were evaluated following an extensive clinical protocol. Safinamide use was categorized as never used, ongoing, and withdrawn. Potential correlations of Safinamide withdrawal were investigated in stepwise backward logistic regression models.

Results: A total of 44 out of 203 participants were current or former users of Safinamide. Overall, 14 (32%) patients discontinued due to treatment-emergent adverse events (TEAEs). Withdrawal was not associated with older age.

Conclusions: Safinamide as an adjunct therapy in patients aged ≥ 60 years with advanced PD was found to be safe and well-tolerated in older patients. There were no specific demographic or clinical characteristics associated with suspension.
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http://dx.doi.org/10.1007/s40520-020-01469-4DOI Listing
July 2020

Prevalence of Obsessive-Compulsive Symptoms in Elderly Parkinson Disease Patients: A Case-Control Study.

Am J Geriatr Psychiatry 2020 02 29;28(2):167-175. Epub 2019 Aug 29.

Fondazione Policlinico Universitario Agostino Gemelli, IRCCS (MRLM, EDS, GZ, DF, RL, DR, MCC, ARB), Rome, Italy; Institute of Neurology, Università Cattolica del Sacro Cuore (MP, DG, ARB), Rome, Italy.

Background: The clinical picture of obsessive-compulsive disorder encompasses a broad range of symptoms that are related to multiple psychological domains, including perception, cognition, emotion, and social relatedness. As obsessive-compulsive symptoms (OCS) frequently have an early onset, there are limited data about OCS in older populations (≥65 years) and, in particular, in elderly subjects with Parkinson disease (PD).

Objective: This study aimed to estimate the prevalence of OCS using a self-report measure (Obsessive-Compulsive Inventory-Revised) and to identify associated sociodemographic and clinical factors in a sample of elderly PD patients compared to a comparison group of similarly aged healthy volunteers.

Results: The mean age was 74 ± 6 years in the PD patients and 73 ± 7 years in the comparison group. The mean disease duration was 9.6 ± 5.8 years. Among the PD patients, 30.7% reported at least one OCS or a related disorder compared to 21.1% in the comparison group. Hoarding was significantly more common in PD patients than in the comparison group.

Conclusions: Subclinical OCS were present at a high percentage in both PD patients and comparison group. The OCS phenotype in PD may present differently, as hoarding was more common in PD patients.
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http://dx.doi.org/10.1016/j.jagp.2019.08.022DOI Listing
February 2020

Immediate effects of rhythmic auditory stimulation on gait kinematics in Parkinson's disease ON/OFF medication.

Clin Neurophysiol 2019 10 25;130(10):1789-1797. Epub 2019 Jul 25.

Fondazione Policlinico Universitario Agostino Gemelli IRCSS, Rome, Italy; Department of Geriatrics, Neurosciences and Orthopaedics, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

Objective: Gait impairment is a highly disabling symptom for Parkinson's disease (PD) patients. Rhythmic auditory stimulation (RAS), has shown to improve spatio-temporal gait parameters in PD, but only a few studies have focused on their effects on gait kinematics, and the ideal stimulation frequency has still not been identified.

Methods: We enrolled 30 PD patients and 18 controls. Patients were evaluated under two conditions (with (ON), and without (OFF) medications) with three different RAS frequencies (90%, 100%, and 110% of the patient's preferred walking cadence). Spatial-temporal parameters, joint angles and gait phases distribution were evaluated. A novel global index (GPQI) was used to quantify the difference in gait phase distribution.

Results: Along with benefits in spatial-temporal parameters, GPQI improved significantly with RAS at a frequency of 110% for both ON and OFF medication conditions. In the most severe patients, the same result was observed also with RAS at 100%.

Conclusions: RAS administration, at a frequency of 110% of the preferred walking frequency, can be beneficial in improving the gait pattern in PD patients.

Significance: When rhythmic auditory stimulation is provided to patients with PD, the selection of an adequate frequency of stimulation can optimize their effects on gait pattern.
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http://dx.doi.org/10.1016/j.clinph.2019.07.013DOI Listing
October 2019

Prevalence of Impulsive-Compulsive Symptoms in Elderly Parkinson's Disease Patients: A Case-Control Study.

J Clin Psychiatry 2018 May/Jun;79(3)

Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy.

Background: Impulse-control disorders (ICDs) are frequently described in patients with Parkinson's disease (PD), particularly among those treated with dopaminergic medications, but data on the prevalence of ICDs in elderly populations are lacking.

Objective: The aim of this study was to estimate the prevalence of ICDs by using an Italian validation of the Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP) and to identify associated sociodemographic and clinical factors in a sample of elderly PD patients and in a control group of similarly aged healthy volunteers.

Methods: Using the United Kingdom Parkinson's Disease Society Brain Bank diagnostic criteria, we included 115 consecutive PD and 105 healthy controls. They were recruited from June 2014 to December 2015. All participants completed the self-administered QUIP-Anytime for assessment of ICDs occurring any time during the course of PD.

Results: Mean ± SD age was 75.7 ± 7.0 years in the PD patients and 76.1 ± 7.0 years in the control group. The mean disease duration was 6.8 years (range, 1-26 years). Among the PD patients, 44.7% (n = 51) had at least 1 ICD or related disorder compared to 25.2% (n = 26) in the control group (between-group difference: P = .003). Hypersexuality and compulsive shopping were significantly more common in the PD group than in the control group (P < .05). The prevalence of other compulsive behaviors was 42.5% in the PD group and 38.9% in the control group (P = NS). The Italian version of the QUIP-Anytime showed high test-retest reliability (κ > 0.70 for all items).

Conclusions: Our data confirm a high prevalence of ICD symptoms in elderly PD patients, approximately twice that seen in the general population.
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http://dx.doi.org/10.4088/JCP.17m11612DOI Listing
August 2019

Measuring Gait Quality in Parkinson's Disease through Real-Time Gait Phase Recognition.

Sensors (Basel) 2018 Mar 20;18(3). Epub 2018 Mar 20.

Department of Mechanical and Aerospace Engineering, Sapienza University of Rome, 00184 Rome, Italy.

Monitoring gait quality in daily activities through wearable sensors has the potential to improve medical assessment in Parkinson's Disease (PD). In this study, four gait partitioning methods, two based on thresholds and two based on a machine learning approach, considering the four-phase model, were compared. The methods were tested on 26 PD patients, both in OFF and ON levodopa conditions, and 11 healthy subjects, during walking tasks. All subjects were equipped with inertial sensors placed on feet. Force resistive sensors were used to assess reference time sequence of gait phases. Goodness Index (G) was evaluated to assess accuracy in gait phases estimation. A novel synthetic index called Gait Phase Quality Index (GPQI) was proposed for gait quality assessment. Results revealed optimum performance (G < 0.25) for three tested methods and good performance (0.25 < G < 0.70) for one threshold method. The GPQI resulted significantly higher in PD patients than in healthy subjects, showing a moderate correlation with clinical scales score. Furthermore, in patients with severe gait impairment, GPQI was found higher in OFF than in ON state. Our results unveil the possibility of monitoring gait quality in PD through real-time gait partitioning based on wearable sensors.
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http://dx.doi.org/10.3390/s18030919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5876748PMC
March 2018

Long-Term Abobotulinumtoxin A Treatment of Cervical Dystonia.

Neurotox Res 2017 Aug 6;32(2):291-300. Epub 2017 May 6.

Center for Parkinson Disease and Extrapyramidal Disorders, Movement Disorders Unit, Institute of Neurology, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli, 8, 00168, Rome, Italy.

Botulinum toxin is considered as first-line therapy for cervical dystonia, but few papers have addressed these issues in the long term. Aim of this study was to investigate the long-term efficacy and safety of abobotulinumtoxin A (A/Abo) in patients with primary cervical dystonia. Consecutive patients who received at least six injections with A/Abo were included. Safety was assessed on patients' self-reports. Efficacy was assessed by recording the total duration of benefit, duration of maximum efficacy, disease severity measured by means of the Tsui score, and pain intensity evaluated by means of the visual analog scale (VAS). Thirty-nine patients with PCD were included. The mean dose injected was 701.5 ± 280.6 U. The mean duration of the clinical improvement was 93.0 ± 30.7 days, while the mean duration of the maximum clinical improvement was 77.1 ± 27.1 days. The mean VAS before and 4 weeks after injection was 4.4 ± 1.8 and 1.8 ± 1.6, respectively. The mean Tsui score before and 4 weeks after treatment was 5.7 ± 1.8 and 3.5 ± 1.5, respectively. Doses of A/Abo and duration of the maximum clinical improvement significantly increased over time, while the Tsui score and VAS displayed a tendency to decrease along time. Side effects occurred in 19.6% of all the treatments but were severe in only four injections. The results of our study confirm the effectiveness and safety profile of A/Abo for the long-term treatment of primary cervical dystonia.
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http://dx.doi.org/10.1007/s12640-017-9737-6DOI Listing
August 2017

Thrombus in Transit: A Potentially Life-threatening Complication of Cerebral Sinus Thrombosis.

Neurologist 2017 Jan;22(1):21-23

*Dipartimento di Geriatria, Neuroscienze e Ortopedia, Area di Clinica Neurologica, Stroke Unit †Institute of Radiology ‡Institute of Cardiology, Catholic University of the Sacred Heart-Policlinico Universitario Agostino Gemelli, Rome, Italy.

We report the case of a 41-year-old, 7-weeks-pregnant patient, presenting with headache and generalized seizure due to cerebral venous thrombosis complicated by jugular thrombosis and thrombus dislocation into right cardiac cavities. The patient was treated with intravenous heparin, and underwent embolectomy in extracorporeal circulation. This case illustrates the variability of cerebral venous thrombosis progression and a potentially life-threatening condition even during anticoagulant therapy.
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http://dx.doi.org/10.1097/NRL.0000000000000094DOI Listing
January 2017

Botulinum Toxin A and B in sialorrhea: Long-term data and literature overview.

Toxicon 2015 Dec 30;107(Pt A):129-40. Epub 2015 Aug 30.

Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

Introduction And Objectives: In recent years, Botulinum Toxin has been shown to be efficacious and safe in the treatment of sialorrhea, but scanty data are available on its long term use. The aim of this study was to investigate adverse events, discriminate differences in safety, and evaluate the efficacy of long-term use of both abobotulinumtoxinA and rimabotulinumtoxinB ultrasound-guided injections for sialorrhea in a retrospective trial. Moreover we review the literature on this topic.

Patients And Methods: Consecutive patients with severe sialorrhea and receiving at least two ultrasound-guided intrasalivary glands abobotulinumtoxinA 250 U or rimabotulinumtoxinB 2500 U injections were included. Clinical and demographic data were collected. Safety and tolerability were assessed on the basis of patients' self-reports. Efficacy was assessed by recording the duration of benefit and by the Drooling Severity Scale and Drooling Frequency Scale 4 weeks after intervention. A review of literature was performed using 'Botulinum Toxin' and/or 'drooling' and/or 'sialorrhea' and/or 'hypersalivation' as keywords.

Results: Sixty-five patients (32 Amyotrophic Lateral Sclerosis and 33 Parkinson's Disease) were treated in a total of 317 sessions (181 rimabotulinumtoxinB and 136 abobotulinumtoxinA). Both serotypes induced a clear-cut benefit in 89% of injections. Mean benefit duration was 87 days (range 30-240), similar for abobotulinumtoxinA and rimabotulinumtoxinB but significantly shorter in Amyotrophic Lateral Sclerosis group compared to Parkinson's Disease (p < 0.001). Older age was positively correlated to benefit duration (p = 0.003). Botulinum Toxin-related and injection-related side effects complicated respectively 8,2% and 1,5% of treatments. The only Botulinum Toxin-related adverse event was a change of saliva thickness, mostly rated mild to moderate and more frequent in Amyotrophic Lateral Sclerosis patients (p = NS).

Conclusions: Both 250 U abobotulinumtoxinA and 2500 U rimabotulinumtoxinB administered by ultrasound-guided intrasalivary gland injection are safe and effective in treating sialorrhea, even in long-term follow-up. Older age is significantly associated with longer benefit duration. Parkinson's Disease patients showed a more favorable safety-efficacy ratio than did Amyotrophic Lateral Sclerosis patients, due to lower adverse events (p = NS) and longer benefit duration (p < 0.001).
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http://dx.doi.org/10.1016/j.toxicon.2015.08.014DOI Listing
December 2015

Clinical differences between botulinum neurotoxin type A and B.

Toxicon 2015 Dec 7;107(Pt A):77-84. Epub 2015 Aug 7.

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, UK.

In humans, the therapeutic use of botulinum neurotoxin A (BoNT/A) is well recognized and continuously expanding. Four BoNTs are widely available for clinical practice: three are serotype A and one is serotype B: onabotulinumtoxinA (A/Ona), abobotulinumtoxinA (A/Abo) and incobotulinumtoxinA (A/Inco), rimabotulinumtoxinB (B/Rima). A/Abo, A/Inco, A/Ona and B/Rima are all licensed worldwide for cervical dystonia. In addition, the three BoNT/A products are approved for blepharospasm and focal dystonias, spasticity, hemifacial spasm, hyperhidrosis and facial lines, with remarkable regional differences. These toxin brands differ for specific activity, packaging, constituents, excipient, and storage. Comparative literature assessing the relative safety and efficacy of different BoNT products is limited, most data come from reports on small samples, and only a few studies meet criteria of evidence-based medicine. One study compared the effects of BoNT/A and BoNT/B on muscle activity of healthy volunteers, showing similar neurophysiological effects with a dose ratio of 1:100. In cervical dystonia, when comparing the effects of BoNT/A and BoNT/B, results are more variable, some studies reporting roughly similar peak effect and overall duration (at a ratio of 1:66, others reporting substantially shorter duration of BoNT/B than BoNT/A (at a ratio 1/24). Although the results of clinical studies are difficult to compare for methodological differences (dose ratio, study design, outcome measures), it is widely accepted that: BoNT/B is clinically effective using appropriate doses as BoNT/A (1:40-50), injections are generally more painful, in most of the studies on muscular conditions, efficacy is shorter, and immunogenicity higher. Since the earliest clinical trials, it has been reported that autonomic side effects are more frequent after BoNT/B injections, and this observation encouraged the use of BoNT/B for sialorrhea, hyperhidrosis and other non-motor symptoms. In these indications the efficacy of toxins A and B are comparable and dose ratio is 1:25-30.
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http://dx.doi.org/10.1016/j.toxicon.2015.08.001DOI Listing
December 2015

Working on asymmetry in Parkinson's disease: randomized, controlled pilot study.

Neurol Sci 2015 Aug 13;36(8):1337-43. Epub 2015 Feb 13.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK,

Posture, gait and balance problems are very disabling symptoms in Parkinson's disease (PD). An increased stride-to-stri de variability, reduction of automaticity and asymmetry of lower limbs function characterize parkinsonian gait. These features predispose to freezing of gait (FOG), which often leads to falls. The aim of this study was to evaluate how the modulation of asymmetry through physiotherapy might improve gait and reduce FOG, thus preventing falls. Twenty-eight PD patients entered a double-blind pilot feasibility controlled study and were evaluated at baseline and after 3 months of a rehabilitative program (performed twice a week) by means of the motor part of the Unified Parkinson's Disease Rating Scale (UPDRS-III), Gait and Falls Questionnaire, Tinetti balance and gait scale, Short Physical Performance Battery (SPPB), European Quality of Life questionnaire. Patients were randomly assigned to three treatment arms: (1) worst side improvement; (2) best side improvement; (3) standard therapy. All study arms showed a significant improvement of the Tinetti and SPPB scores. BSI led to a greater improvement than ST in terms of UPDRS-III (p = 0.01); Tinetti total score (p = 0.05) and Tinetti gait subscore (p = 0.01). Our study confirms the efficacy of physical therapy in the treatment of PD and, more importantly, suggests that specific intervention tailored on individual feature (e.g., asymmetry of motor condition) might be even more effective than standard rehabilitative programs.
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http://dx.doi.org/10.1007/s10072-015-2082-8DOI Listing
August 2015

The role of small intestinal bacterial overgrowth in Parkinson's disease.

Mov Disord 2013 Aug 27;28(9):1241-9. Epub 2013 May 27.

Department of Neurology, Catholic University of Sacred Heart, Gemelli University Hospital, Rome, Italy.

Parkinson's disease is associated with gastrointestinal motility abnormalities favoring the occurrence of local infections. The aim of this study was to investigate whether small intestinal bacterial overgrowth contributes to the pathophysiology of motor fluctuations. Thirty-three patients and 30 controls underwent glucose, lactulose, and urea breath tests to detect small intestinal bacterial overgrowth and Helicobacter pylori infection. Patients also underwent ultrasonography to evaluate gastric emptying. The clinical status and plasma concentration of levodopa were assessed after an acute drug challenge with a standard dose of levodopa, and motor complications were assessed by Unified Parkinson's Disease Rating Scale-IV and by 1-week diaries of motor conditions. Patients with small intestinal bacterial overgrowth were treated with rifaximin and were clinically and instrumentally reevaluated 1 and 6 months later. The prevalence of small intestinal bacterial overgrowth was significantly higher in patients than in controls (54.5% vs. 20.0%; P = .01), whereas the prevalence of Helicobacter pylori infection was not (33.3% vs. 26.7%). Compared with patients without any infection, the prevalence of unpredictable fluctuations was significantly higher in patients with both infections (8.3% vs. 87.5%; P = .008). Gastric half-emptying time was significantly longer in patients than in healthy controls but did not differ in patients based on their infective status. Compared with patients without isolated small intestinal bacterial overgrowth, patients with isolated small intestinal bacterial overgrowth had longer off time daily and more episodes of delayed-on and no-on. The eradication of small intestinal bacterial overgrowth resulted in improvement in motor fluctuations without affecting the pharmacokinetics of levodopa. The relapse rate of small intestinal bacterial overgrowth at 6 months was 43%. © 2013 Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.25522DOI Listing
August 2013

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism.

Mov Disord 2011 Feb 4;26(3):553-6. Epub 2011 Mar 4.

Department of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

Background: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral neuropathy. The neuroradiologic hallmarks are thin corpus callosum and periventricular white matter changes. Mutations in the SPG11 gene have been identified to be a major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and recently also proven to be responsible for juvenile parkinsonism associated with spastic paraplegia.

Methods: We describe one Italian autosomal recessive hereditary spastic paraplegia with thin corpus callosum patient who unusually presented at onset, 16 years, with parkinsonism-like features, responsive to dopaminergic therapy. Then the clinical picture evolved and became more complex. A brain magnetic resonance imaging scan showed thin corpus callosum and hyperintense T(2)-weighted lesions in periventricular regions, and the (123)I-ioflupane single-photon emission coupled tomography was abnormal.

Results: Genetic analysis detected two novel mutations, a c.3664insT variant in compound heterozygosity with a c.6331insG mutation, in SPG11.

Discussion: This case confirms the high genetic and clinical heterogeneity associated with SPG11 mutations. It also offers further evidence that parkinsonism may initiate autosomal recessive hereditary spastic paraplegia with thin corpus callosum and that parkinsonian symptoms can have variable dopaminergic response in these patients.
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http://dx.doi.org/10.1002/mds.23552DOI Listing
February 2011

Mutation screening of the DYT6/THAP1 gene in Italy.

Mov Disord 2009 Dec;24(16):2424-7

IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute, Rome, Italy.

Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1-negative PTD who had onset of symptoms below 30 years and/or positive family history. One sporadic Greek male patient, aged 57 years, was found to carry a novel heterozygous missense variant in THAP1 exon 3 (p.Cys170Arg), of likely pathogenic significance. This subject first presented with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely severe left laterocollis, without further spreading to other body districts. Our findings expand the genotypic spectrum of THAP1 and strengthen the association with upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD.
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http://dx.doi.org/10.1002/mds.22861DOI Listing
December 2009