54 results on '"Albanese, Alberto"'
Search Results
2. Phenotypic characterisation of DYT13 primary torsion distonia
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Bentivoglio, Anna Rita, Ialongo, Tamara, Contarino, Maria Fiorella, Valente, Enza Maria, and Albanese, Alberto
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Settore MED/26 - NEUROLOGIA ,Parkinson - Published
- 2004
3. MRI Abnormalities Identify Neuronal Intranuclear Inclusion Disease.
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De Santis T, Politi LS, Valente EM, and Albanese A
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- Humans, Brain diagnostic imaging, Brain pathology, Intranuclear Inclusion Bodies pathology, Magnetic Resonance Imaging methods, Neurodegenerative Diseases diagnostic imaging, Neurodegenerative Diseases pathology
- Published
- 2024
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4. Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study.
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Di Fonzo A, Percetti M, Monfrini E, Palmieri I, Albanese A, Avenali M, Bartoletti-Stella A, Blandini F, Brescia G, Calandra-Buonaura G, Campopiano R, Capellari S, Colangelo I, Comi GP, Cuconato G, Ferese R, Galandra C, Gambardella S, Garavaglia B, Gaudio A, Giardina E, Invernizzi F, Mandich P, Mineri R, Panteghini C, Reale C, Trevisan L, Zampatti S, Cortelli P, and Valente EM
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- Humans, Middle Aged, Adult, Retrospective Studies, Mutation, Genetic Testing, Age of Onset, Parkinson Disease diagnosis, Parkinson Disease genetics
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Background and Objective: Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far., Methods: We retrospectively collected data from 648 patients with PD with age at onset younger than 55 years who underwent NGS of a minimal shared panel of 15 PD-related genes, as well as PD-multiplex ligation-dependent probe amplification in eight Italian diagnostic laboratories. Data included a minimal clinical dataset, the complete list of variants included in the diagnostic report, and final interpretation (positive/negative/inconclusive). Patients were further stratified based on age at onset ≤40 years (very EOPD, n = 157). All variants were reclassified according to the latest American College of Medical Genetics and Genomics criteria. For classification purposes, PD-associated GBA1 variants were considered diagnostic., Results: In 186 of 648 (29%) patients, the diagnostic report listed at least one variant, and the outcome was considered diagnostic (positive) in 105 (16%). After reanalysis, diagnosis changed in 18 of 186 (10%) patients, with 5 shifting from inconclusive to positive and 13 former positive being reclassified as inconclusive. A definite diagnosis was eventually reached in 97 (15%) patients, of whom the majority carried GBA1 variants or, less frequently, biallelic PRKN variants. In 89 (14%) cases, the genetic report was inconclusive., Conclusions: This study attempts to harmonize reporting of PD genetic testing across several diagnostic labs and highlights current difficulties in interpreting genetic variants emerging from NGS-multigene panels, with relevant implications for counseling. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
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- 2023
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5. Isolated Cervical Dystonia: Diagnosis and Classification.
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Albanese A, Bhatia KP, Cardoso F, Comella C, Defazio G, Fung VSC, Hallett M, Jankovic J, Jinnah HA, Kaji R, Krauss JK, Lang A, Tan EK, Tijssen MAJ, and Vidailhet M
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- Humans, Tremor, Consensus, International Classification of Diseases, Parkinson Disease diagnosis, Torticollis diagnosis, Dystonic Disorders genetics
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This document presents a consensus on the diagnosis and classification of isolated cervical dystonia (iCD) with a review of proposed terminology. The International Parkinson and Movement Disorder Society Dystonia Study Group convened a panel of experts to review the main clinical and diagnostic issues related to iCD and to arrive at a consensus on diagnostic criteria and classification. These criteria are intended for use in clinical research, but also may be used to guide clinical practice. The benchmark is expert clinical observation and evaluation. The criteria aim to systematize the use of terminology as well as the diagnostic process, to make it reproducible across centers and applicable by expert and non-expert clinicians. Although motor abnormalities remain central, increasing recognition has been given to nonmotor manifestations, which are incorporated into the current criteria. Three iCD presentations are described in some detail: idiopathic (focal or segmental) iCD, genetic iCD, and acquired iCD. The relationship between iCD and isolated head tremor is also reviewed. Recognition of idiopathic iCD has two levels of certainty, definite or probable, supported by specific diagnostic criteria. Although a probable diagnosis is appropriate for clinical practice, a higher diagnostic level may be required for specific research studies. The consensus retains elements proven valuable in previous criteria and omits aspects that are no longer justified, thereby encapsulating diagnosis according to current knowledge. As understanding of iCD expands, these criteria will need continuous revision to accommodate new advances. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society., (© 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
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- 2023
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6. TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
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Percetti M, Franco G, Monfrini E, Caporali L, Minardi R, La Morgia C, Valentino ML, Liguori R, Palmieri I, Ottaviani D, Vizziello M, Ronchi D, Di Berardino F, Cocco A, Macao B, Falkenberg M, Comi GP, Albanese A, Giometto B, Valente EM, Carelli V, and Di Fonzo A
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- DNA, Mitochondrial genetics, Humans, Mutation genetics, Retrospective Studies, Mitochondrial Diseases complications, Mitochondrial Diseases genetics, Parkinson Disease complications, Parkinson Disease genetics, Parkinsonian Disorders pathology
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Background: Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK., Objectives: The aim was to screen for TWNK variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with TWNK-related autosomal dominant progressive external ophthalmoplegia (TWNK-adPEO)., Methods: Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including TWNK, as well as genes causative of monogenic PD. Genetic and clinical data of 18 TWNK-adPEO patients with parkinsonism were retrospectively analyzed., Results: Six of 263 PD patients (2%), presenting either with isolated PD (n = 4) or in combination with bilateral ptosis (n = 2), carried TWNK likely pathogenic variants. Among 18 TWNK-adPEO patients, 5 (28%) had parkinsonism., Conclusions: We show candidate TWNK variants occurring in PD without PEO. This finding will require further confirmatory studies. © 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society., (© 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.)
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- 2022
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7. GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.
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Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, Criscuolo C, Dati G, De Rosa A, Eleopra R, Fabbrini G, Fadda L, Garbellini M, Minafra B, Onofrj M, Pacchetti C, Palmieri I, Pellecchia MT, Petracca M, Picillo M, Pisani A, Vallelunga A, Zangaglia R, Di Fonzo A, Morgante F, and Valente EM
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- Dissection, Genotype, Glucosylceramidase genetics, Humans, Italy epidemiology, Mutation genetics, Phenotype, Parkinson Disease epidemiology, Parkinson Disease genetics
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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., (© 2020 International Parkinson and Movement Disorder Society.)
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- 2020
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8. Idiopathic Non-task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia.
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Defazio G, Ercoli T, Erro R, Pellicciari R, Mascia MM, Fabbrini G, Albanese A, Lalli S, Eleopra R, Barone P, Marchese R, Ceravolo R, Scaglione C, Liguori R, Esposito M, Bentivoglio AR, Bertolasi L, Altavista MC, Bono F, Pisani A, Girlanda P, and Berardelli A
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- Adult, Female, Humans, Italy, Male, Retrospective Studies, Tremor, Dystonia, Dystonic Disorders
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Objective: The objective of this study was to describe the clinical and demographic features of idiopathic non-task-specific upper limb dystonia compared with the task-specific form., Methods: In this retrospective study, adult patients with idiopathic upper limb dystonia, either focal or as part of a segmental/multifocal dystonia, from the Italian Dystonia Registry were enrolled. In patients with focal upper limb dystonia, dystonia spread was estimated by survival analysis., Results: Of the 1522 patients with idiopathic adult-onset dystonia included in the Italian Dystonia Registry, we identified 182 patients with upper limb dystonia. Non-task-specific dystonia was present in 61.5% of enrolled cases. Women predominated among non-task-specific patients, whereas men predominated in the task-specific group. Peak age of upper limb dystonia onset was in the sixth decade in the non-task-specific group and in the fourth decade in the task-specific group. In both groups, upper limb dystonia started as focal dystonia or as part of a segmental dystonia. Segmental onset was more frequent among non-task-specific patients, whereas focal onset predominated among task-specific patients. Dystonic action tremor was more frequent among non-task-specific patients. No significant differences between groups emerged in terms of sensory trick frequency, rest tremor, or family history of dystonia. In patients with focal upper limb dystonia, dystonia spread was greater in the non-task-specific group., Conclusion: Novel information on upper limb dystonia patients suggests that non-task-specific and task-specific upper limb dystonia have different demographic and clinical features. However, it remains to be determined whether these differences also reflect pathophysiological differences. © 2020 International Parkinson and Movement Disorder Society., (© 2020 International Parkinson and Movement Disorder Society.)
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- 2020
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9. Classifying tremor: Language matters.
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Albanese A
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- Advisory Committees, Consensus, Humans, Parkinson Disease, Language, Tremor
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- 2018
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10. Treatable inherited rare movement disorders.
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Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, and Gatto EM
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- Clinical Trials as Topic methods, Humans, Treatment Outcome, Movement Disorders genetics, Movement Disorders therapy, Rare Diseases genetics, Rare Diseases therapy
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There are many rare movement disorders, and new ones are described every year. Because they are not well recognized, they often go undiagnosed for long periods of time. However, early diagnosis is becoming increasingly important. Rapid advances in our understanding of the biological mechanisms responsible for many rare disorders have enabled the development of specific treatments for some of them. Well-known historical examples include Wilson disease and dopa-responsive dystonia, for which specific and highly effective treatments have life-altering effects. In recent years, similarly specific and effective treatments have been developed for more than 30 rare inherited movement disorders. These treatments include specific medications, dietary changes, avoidance or management of certain triggers, enzyme replacement therapy, and others. This list of treatable rare movement disorders is likely to grow during the next few years because a number of additional promising treatments are actively being developed or evaluated in clinical trials. © 2017 International Parkinson and Movement Disorder Society., (© 2017 International Parkinson and Movement Disorder Society.)
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- 2018
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11. Quantitative gait analysis in parkin disease: Possible role of dystonia.
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Castagna A, Frittoli S, Ferrarin M, Del Sorbo F, Romito LM, Elia AE, and Albanese A
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- Adult, Biomechanical Phenomena, Dystonia etiology, Female, Gait Disorders, Neurologic etiology, Humans, Male, Middle Aged, Parkinson Disease complications, Parkinson Disease genetics, Dystonia physiopathology, Gait Disorders, Neurologic physiopathology, Parkinson Disease physiopathology, Ubiquitin-Protein Ligases
- Abstract
Introduction: Parkin disease (PARK2, OMIM 602544) is an autosomal-recessive early-onset parkinsonism characterized by an early occurrence of lower limb dystonia. The aim of this study was to analyze spatiotemporal, kinematic, and kinetic gait parameters in patients with parkin disease in the OFF and ON conditions compared to healthy age-matched controls., Methods: Fifteen patients with parkin disease and 15 healthy age-matched controls were studied in a gait analysis laboratory with an integrated optoelectronic system. Spatiotemporal, kinematic, and kinetic gait parameters at a self-selected speed were recorded in the OFF and ON conditions. A jerk index was computed to quantify the possible reduction of smoothness of joint movements., Results: Compared to controls, parkin patients had, either in the OFF or in the ON conditions, significant reduction of walking velocity, increased step width, and decreased percentage of double support. Kinematic analysis in both conditions showed: increased ankle dorsiflexion and knee flexion at the initial contact; maximal flexion and increased range of motion in mid stance; increased hip flexion and max extension in stance at pelvis; and increased mean tilt antiversion. Kinetics showed increased hip and knee power generation in stance in either condition. The jerk index was increased at all joints both in OFF and ON. There were no correlations between individual gait parameters and clinical ratings., Conclusion: Parkin patients have an abnormal gait pattern that does not vary between the OFF and the ON conditions. Variations recorded with instrumented analysis are more evident for kinematic than kinetic parameters at lower limbs. Severity of dystonia does not correlate with any individual kinematic parameter. © 2016 International Parkinson and Movement Disorder Society., (© 2016 International Parkinson and Movement Disorder Society.)
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- 2016
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12. "Complex" dystonia is not a category in the new 2013 consensus classification.
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Albanese A, Bhatia K, DeLong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Mink JW, and Teller JK
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- Dystonic Disorders, Humans, Consensus, Dystonia
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- 2016
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13. Therapeutic advances in dystonia.
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Albanese A, Romito LM, and Calandrella D
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- Humans, Botulinum Toxins therapeutic use, Deep Brain Stimulation, Dystonia therapy, Neurotoxins therapeutic use, Transcranial Magnetic Stimulation
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Knowledge on dystonia has greatly improved recently, because of a renewed effort in understanding its cause, pathophysiology, and clinical characterization. Different drug classes traditionally have been used for the symptomatic treatment of dystonia, more recently surpassed by the introduction of botulinum neurotoxins and deep brain stimulation. No curative or disease-modifying treatments are available. Recent knowledge regarding the pathophysiology of inherited dystonias is highlighting new potential treatment strategies. We review therapeutic advances in dystonia that have been published over the last 3 years, particularly regarding oral medications, local injections of botulinum neurotoxins, deep brain stimulation, and transcranial or epidural brain stimulations. We discuss evidence of efficacy, highlight recent advances, and focus on key areas under development., (© 2015 International Parkinson and Movement Disorder Society.)
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- 2015
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14. Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
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Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, and Klein C
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- Genetic Loci, Genetic Testing methods, Humans, Risk, Risk Factors, Arylsulfatases genetics, Dystonic Disorders genetics, Genetic Predisposition to Disease, Genome-Wide Association Study, Psychomotor Performance physiology
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Musician's dystonia (MD) affects 1% to 2% of professional musicians and frequently terminates performance careers. It is characterized by loss of voluntary motor control when playing the instrument. Little is known about genetic risk factors, although MD or writer's dystonia (WD) occurs in relatives of 20% of MD patients. We conducted a 2-stage genome-wide association study in whites. Genotypes at 557,620 single-nucleotide polymorphisms (SNPs) passed stringent quality control for 127 patients and 984 controls. Ten SNPs revealed P < 10(-5) and entered the replication phase including 116 MD patients and 125 healthy musicians. A genome-wide significant SNP (P < 5 × 10(-8) ) was also genotyped in 208 German or Dutch WD patients, 1,969 Caucasian, Spanish, and Japanese patients with other forms of focal or segmental dystonia as well as in 2,233 ethnically matched controls. Genome-wide significance with MD was observed for an intronic variant in the arylsulfatase G (ARSG) gene (rs11655081; P = 3.95 × 10(-9) ; odds ratio [OR], 4.33; 95% confidence interval [CI], 2.66-7.05). rs11655081 was also associated with WD (P = 2.78 × 10(-2) ) but not with any other focal or segmental dystonia. The allele frequency of rs11655081 varies substantially between different populations. The population stratification in our sample was modest (λ = 1.07), but the effect size may be overestimated. Using a small but homogenous patient sample, we provide data for a possible association of ARSG with MD. The variant may also contribute to the risk of WD, a form of dystonia that is often found in relatives of MD patients., (© 2013 International Parkinson and Movement Disorder Society.)
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- 2014
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15. Reply: dystonia after severe head injuries.
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Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, and Teller JK
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- Humans, Consensus, Dystonia classification, Dystonia physiopathology, International Cooperation
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- 2014
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16. Pathological gambling in Parkinson's disease: subthalamic oscillations during economics decisions.
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Rosa M, Fumagalli M, Giannicola G, Marceglia S, Lucchiari C, Servello D, Franzini A, Pacchetti C, Romito L, Albanese A, Porta M, Pravettoni G, and Priori A
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- Adult, Aged, Deep Brain Stimulation, Electrodes, Implanted, Female, Gambling complications, Gambling psychology, Humans, Male, Middle Aged, Parkinson Disease complications, Parkinson Disease psychology, Parkinson Disease therapy, Risk-Taking, Decision Making physiology, Gambling physiopathology, Membrane Potentials physiology, Parkinson Disease physiopathology, Subthalamic Nucleus physiopathology
- Abstract
Pathological gambling develops in up to 8% of patients with Parkinson's disease. Although the pathophysiology of gambling remains unclear, several findings argue for a dysfunction in the basal ganglia circuits. To clarify the role of the subthalamic nucleus in pathological gambling, we studied its activity during economics decisions. We analyzed local field potentials recorded from deep brain stimulation electrodes in the subthalamic nucleus while parkinsonian patients with (n = 8) and without (n = 9) pathological gambling engaged in an economics decision-making task comprising conflictual trials (involving possible risk-taking) and non conflictual trials. In all parkinsonian patients, subthalamic low frequencies (2-12 Hz) increased during economics decisions. Whereas, in patients without gambling, low-frequency oscillations exhibited a similar pattern during conflictual and non conflictual stimuli, in those with gambling, low-frequency activity increased significantly more during conflictual than during non conflictual stimuli. The specific low-frequency oscillatory pattern recorded in patients with Parkinson's disease who gamble could reflect a subthalamic dysfunction that makes their decisional threshold highly sensitive to risky options. When parkinsonian patients process stimuli related to an economics task, low-frequency subthalamic activity increases. This task-related change suggests that the cognitive-affective system that drives economics decisional processes includes the subthalamic nucleus. The specific subthalamic neuronal activity during conflictual decisions in patients with pathological gambling supports the idea that the subthalamic nucleus is involved in behavioral strategies and in the pathophysiology of gambling., (Copyright © 2013 Movement Disorder Society.)
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- 2013
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17. Dystonia rating scales: critique and recommendations.
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Albanese A, Sorbo FD, Comella C, Jinnah HA, Mink JW, Post B, Vidailhet M, Volkmann J, Warner TT, Leentjens AF, Martinez-Martin P, Stebbins GT, Goetz CG, and Schrag A
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- Databases, Factual statistics & numerical data, Dystonia psychology, Humans, Psychometrics, Surveys and Questionnaires, Dystonia diagnosis, Dystonia therapy, Health Planning Guidelines, Severity of Illness Index
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Many rating scales have been applied to the evaluation of dystonia, but only few have been assessed for clinimetric properties. The Movement Disorders Society commissioned this task force to critique existing dystonia rating scales and place them in the clinical and clinimetric context. A systematic literature review was conducted to identify rating scales that have either been validated or used in dystonia. Thirty-six potential scales were identified. Eight were excluded because they did not meet review criteria, leaving 28 scales that were critiqued and rated by the task force. Seven scales were found to meet criteria to be "recommended": the Blepharospasm Disability Index is recommended for rating blepharospasm; the Cervical Dystonia Impact Scale and the Toronto Western Spasmodic Torticollis Rating Scale for rating cervical dystonia; the Craniocervical Dystonia Questionnaire for blepharospasm and cervical dystonia; the Voice Handicap Index (VHI) and the Vocal Performance Questionnaire (VPQ) for laryngeal dystonia; and the Fahn-Marsden Dystonia Rating Scale for rating generalized dystonia. Two "recommended" scales (VHI and VPQ) are generic scales validated on few patients with laryngeal dystonia, whereas the others are disease-specific scales. Twelve scales met criteria for "suggested" and 7 scales met criteria for "listed." All the scales are individually reviewed in the online information. The task force recommends 5 specific dystonia scales and suggests to further validate 2 recommended generic voice-disorder scales in dystonia. Existing scales for oromandibular, arm, and task-specific dystonia should be refined and fully assessed. Scales should be developed for body regions for which no scales are available, such as lower limbs and trunk., (© 2013 Movement Disorder Society.)
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- 2013
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18. Phenomenology and classification of dystonia: a consensus update.
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Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, and Teller JK
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- Age of Onset, Databases, Factual statistics & numerical data, Dystonia etiology, Humans, Nervous System pathology, Consensus, Dystonia classification, Dystonia physiopathology, International Cooperation
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This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society., (© 2013 Movement Disorder Society.)
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- 2013
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19. Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.
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Elia AE, Petrucci S, Fasano A, Guidi M, Valbonesi S, Bernardini L, Consoli F, Ferraris A, Albanese A, and Valente EM
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- Adult, Aged, Female, Genetic Association Studies, Humans, Male, Middle Aged, Pedigree, Gene Duplication genetics, Parkinsonian Disorders genetics, alpha-Synuclein genetics
- Abstract
Background: Multiplications of the SNCA gene that encodes alpha-synuclein are a rare cause of autosomal dominant Parkinson's disease (PD)., Methods: Here, we describe 2 novel families in which there is autosomal dominant PD associated with SNCA duplication, and we compare the clinical features of all known patients carrying 3 or 4 SNCA copies., Results: Affected members in family A presented with early onset PD that was variably associated with nonmotor features, such as dysautonomia, cognitive deficits, and psychiatric disturbances. In family B, the clinical presentation ranged from early onset PD-dementia with psychiatric disturbances to late onset PD with mild cognitive impairment., Conclusions: The presence of 4 SNCA copies is associated with a rich phenotype, characterized by earlier onset of motor and nonmotor features compared with patients who bear 3 SNCA copies. The clinical spectrum associated with SNCA duplications is wide, even within a single family, suggesting a role for as yet unidentified genetic or environmental modifiers., (Copyright © 2013 Movement Disorder Society.)
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- 2013
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20. Epidural premotor cortical stimulation in primary focal dystonia: clinical and 18F-fluoro deoxyglucose positron emission tomography open study.
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Lalli S, Piacentini S, Franzini A, Panzacchi A, Cerami C, Messina G, Ferré F, Perani D, and Albanese A
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- Adult, Aged, Disability Evaluation, Dystonic Disorders diagnostic imaging, Female, Fluorodeoxyglucose F18, Follow-Up Studies, Functional Laterality, Humans, Male, Middle Aged, Positron-Emission Tomography, Severity of Illness Index, Torticollis diagnostic imaging, Treatment Outcome, Young Adult, Cerebral Cortex physiology, Deep Brain Stimulation methods, Dystonic Disorders therapy, Torticollis therapy
- Abstract
The aim of this study was to evaluate the efficacy and safety of epidural premotor stimulation in patients with primary focal dystonia. Seven patients were selected: 6 had cervical dystonia and 1 had right upper limb dystonia. In 2 patients, sustained muscle contractions led to a prevalently fixed head posture. Patients with cervical dystonia received a bilateral implant, whereas the patient with hand dystonia received a unilateral implant. Neurological and neuropsychological evaluations were performed before surgery (baseline), and 1, 3, 6, and 12 months afterward. The Burke-Fahn-Marsden scale (BFMS) and the Toronto Western spasmodic torticollis rating scale (TWSTRS) were administered at the same time points. Patients underwent resting (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) scans, before and 12 months after surgery. No adverse events occurred. An overall improvement was observed on the BFMS and TWSTRS after surgery. Patients with prevalently fixed cervical dystonia had a reduced benefit. Presurgical neuroimaging revealed a significant bilateral metabolic increase in the sensorimotor areas, which was reduced after surgery., (Copyright © 2012 Movement Disorder Society.)
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- 2012
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21. Inclusion and exclusion criteria for DBS in dystonia.
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Bronte-Stewart H, Taira T, Valldeoriola F, Merello M, Marks WJ Jr, Albanese A, Bressman S, and Moro E
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- Age Factors, Brain pathology, Brain physiology, Databases, Factual statistics & numerical data, Dementia, Dystonia diagnosis, Dystonia epidemiology, Guidelines as Topic, Humans, Mental Disorders, Deep Brain Stimulation methods, Deep Brain Stimulation standards, Dystonia therapy
- Abstract
When considering a patient with dystonia for deep brain stimulation (DBS) surgery several factors need to be considered. Level B evidence has shown that all motor features and associated pain in primary generalized and segmental dystonia are potentially responsive to globus pallidus internus (GPi) DBS. However, improvements in clinical series of ≥ 90% may reflect methods that need improvement, and larger prospective studies are needed to address these factors. Nevertheless, to date the selection criteria for DBS-specifically in terms of patient features (severity and nature of symptoms, age, time of evolution, or any other demographic or disease aspects)--have not been assessed in a systematic fashion. In general, dystonia patients are not considered for DBS unless medical therapies have been previously and extensively tested. The vast majority of reported patients have had DBS surgery when the disease was provoking important disability, with loss of independence and impaired quality of life. There does not appear to be an upper age limit or a minimum age limit, although there are no published data regarding the outcome of GPi DBS for dystonia in children younger than 7 years of age. There is currently no enough evidence to prove that subjects with primary--generalized dystonia who undergo DBS at an early age and sooner rather than later after disease onset may gain more benefit from DBS than those undergoing DBS after the development of fixed skeletal deformities. There is no enough evidence to refuse or support consideration of DBS in patients with previous ablative procedures., (Copyright © 2011 Movement Disorder Society.)
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- 2011
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22. Guest editors' introduction.
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Moro E, Albanese A, Krauss JK, Metman LV, Vidailhet M, and Hariz MI
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- Humans, Deep Brain Stimulation methods, Movement Disorders therapy
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- 2011
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23. Pre-operative evaluations for DBS in dystonia.
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Thobois S, Taira T, Comella C, Moro E, Bressman S, and Albanese A
- Subjects
- Disability Evaluation, Humans, Severity of Illness Index, Deep Brain Stimulation methods, Dystonia diagnosis, Dystonia therapy, Preoperative Care methods
- Abstract
Background: The preoperative evaluation in dystonia aims at characterizing the severity and topography of motor symptoms in patients, who have previously been selected for deep brain stimulation (DBS)., Methods: The literature search was performed using PubMed, CINAHL, and the Cochrane Collaborative databases., Results: Commonly used scales for clinical assessment are the Burke-Fahn-Marsden dystonia rating scale for generalized dystonia and the Toronto Western Spasmodic Torticollis Scale for cervical dystonia. Motor assessment is completed by quality of life and functional scales, such as the Short-Form Health Survey (SF-36) or the Parkinson's Disease Questionnaire 39. Validated rating scales for cranial or upper limb dystonia are lacking., Discussion: In common clinical practice, these outcome measures can be administered in an open-label fashion because double blind assessment is only required for ascertaining new treatment indications or research purposes. The same measures are to be used postoperatively to revaluate outcome after DBS. Brain MRI is required to confirm diagnosis and assess structural abnormalities. Other imaging techniques, particularly functional imaging, are used for research purposes., (Copyright © 2011 Movement Disorder Society.)
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- 2011
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24. Early versus delayed bilateral subthalamic deep brain stimulation for Parkinson's disease: need for long-term clinical trials.
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Fasano A, Daniele A, and Albanese A
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- Female, Humans, Male, Decision Support Techniques, Deep Brain Stimulation methods, Parkinson Disease therapy, Subthalamic Nucleus physiology
- Published
- 2011
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25. In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia.
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Garibotto V, Romito LM, Elia AE, Soliveri P, Panzacchi A, Carpinelli A, Tinazzi M, Albanese A, and Perani D
- Subjects
- Adult, Analysis of Variance, Brain Mapping, Cerebral Cortex diagnostic imaging, Dystonic Disorders diagnosis, Dystonic Disorders diagnostic imaging, Dystonic Disorders genetics, Female, Flumazenil pharmacokinetics, GABA Modulators pharmacokinetics, Humans, Male, Middle Aged, Molecular Chaperones genetics, Radionuclide Imaging, Sequence Deletion genetics, Trinucleotide Repeats genetics, Cerebral Cortex metabolism, Dystonic Disorders pathology, Receptors, GABA-A metabolism
- Abstract
Background: Preclinical and clinical evidence suggests that impaired gamma-aminobutyric (GABA) control, leading to disinhibition within the sensorimotor system, might play a role in dystonia. Aim of this study is the in vivo assessment of the GABAergic system in dystonia using positron emission tomography (PET) and (11) C-flumazenil, a selective GABA(A) receptor ligand., Methods: Fourteen subjects with primary dystonia (9 carriers of the DYT1 mutation and 5 sporadic cases) were compared to 11 controls, using a simplified reference tissue model to measure binding potential., Results: Voxel-based analyses showed a reduction in GABA(A) receptor expression/affinity both in DYT1 carriers and sporadic patients in primary motor and premotor cortex, primary and secondary somatosensory cortex, and in the motor component of the cingulate gyrus., Conclusions: Dysfunction of GABA(A) receptors in sensorimotor systems in primary (genetic and sporadic) dystonia supports the view that lack of GABAergic control may be associated with the generation of dystonic movements., (Copyright © 2011 Movement Disorder Society.)
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- 2011
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26. Distinguishing scan without evidence of dopaminergic depletion patients with asymmetric resting tremor from Parkinson's disease: a clinical diagnosis of dystonia is required.
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Albanese A and Lalli S
- Subjects
- Diagnosis, Differential, Electromyography, Humans, Dystonic Disorders diagnosis, Parkinson Disease diagnosis
- Published
- 2010
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27. Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry.
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Köllensperger M, Geser F, Ndayisaba JP, Boesch S, Seppi K, Ostergaard K, Dupont E, Cardozo A, Tolosa E, Abele M, Klockgether T, Yekhlef F, Tison F, Daniels C, Deuschl G, Coelho M, Sampaio C, Bozi M, Quinn N, Schrag A, Mathias CJ, Fowler C, Nilsson CF, Widner H, Schimke N, Oertel W, Del Sorbo F, Albanese A, Pellecchia MT, Barone P, Djaldetti R, Colosimo C, Meco G, Gonzalez-Mandly A, Berciano J, Gurevich T, Giladi N, Galitzky M, Rascol O, Kamm C, Gasser T, Siebert U, Poewe W, and Wenning GK
- Subjects
- Age of Onset, Antiparkinson Agents therapeutic use, Cerebellar Ataxia diagnosis, Cerebellar Ataxia physiopathology, Europe, Female, Humans, Hypotension, Orthostatic diagnosis, Hypotension, Orthostatic physiopathology, Levodopa therapeutic use, Male, Middle Aged, Multiple System Atrophy physiopathology, Parkinsonian Disorders diagnosis, Parkinsonian Disorders drug therapy, Parkinsonian Disorders physiopathology, Shy-Drager Syndrome diagnosis, Shy-Drager Syndrome physiopathology, Multiple System Atrophy diagnosis, Multiple System Atrophy therapy, Registries
- Abstract
Multiple system atrophy (MSA) is a Parkinson's Disease (PD)-like α-synucleinopathy clinically characterized by dysautonomia, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination. We aimed to determine whether the clinical presentation of MSA as well as diagnostic and therapeutic strategies differ across Europe and Israel. In 19 European MSA Study Group centres all consecutive patients with a clinical diagnosis of MSA were recruited from 2001 to 2005. A standardized minimal data set was obtained from all patients. Four-hundred thirty-seven MSA patients from 19 centres in 10 countries were included. Mean age at onset was 57.8 years; mean disease duration at inclusion was 5.8 years. According to the consensus criteria 68% were classified as parkinsonian type (MSA-P) and 32% as cerebellar type (MSA-C) (probable MSA: 72%, possible MSA: 28%). Symptomatic dysautonomia was present in almost all patients, and urinary dysfunction (83%) more common than symptomatic orthostatic hypotension (75%). Cerebellar ataxia was present in 64%, and parkinsonism in 87%, of all cases. No significant differences in the clinical presentation were observed between the participating countries. In contrast, diagnostic work up and therapeutic strategies were heterogeneous. Less than a third of patients with documented orthostatic hypotension or neurogenic bladder disturbance were receiving treatment. This largest clinical series of MSA patients reported so far shows that the disease presents uniformly across Europe. The observed differences in diagnostic and therapeutic management including lack of therapy for dysautonomia emphasize the need for future guidelines in these areas., (© 2010 Movement Disorder Society.)
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- 2010
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28. The diagnostic challenge of primary dystonia: evidence from misdiagnosis.
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Lalli S and Albanese A
- Subjects
- Databases, Factual statistics & numerical data, Dystonic Disorders etiology, Dystonic Disorders physiopathology, Humans, Diagnostic Errors, Dystonic Disorders diagnosis
- Abstract
Although the understanding of dystonia has improved in recent years, primary dystonia is still insufficiently recognized and patients may not receive the correct diagnosis, leading to transient or permanent misclassification of their symptoms. We reviewed cases of primary dystonia who were at first misdiagnosed and analyzed the reasons why the correct diagnosis was first missed and later retained. Primary dystonia is misdiagnosed mainly, but not exclusively, in favor of other movement disorders: Parkinson's disease (PD), essential tremor, myoclonus, tics, psychogenic movement disorder (PMD), and even headache or scoliosis. Accounts are more numerous for PD and PMD, where diagnostic tests, such as DAT scan and psychological assessment, support clinical orientation. The correct diagnosis was achieved in all cases following the recognition of inconsistencies in the first judgment and of distinctive clinical features of dystonia. These clues have been collected here and assembled into a diagnostic epitome.
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- 2010
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29. Long-term results of a multicenter study on subthalamic and pallidal stimulation in Parkinson's disease.
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Moro E, Lozano AM, Pollak P, Agid Y, Rehncrona S, Volkmann J, Kulisevsky J, Obeso JA, Albanese A, Hariz MI, Quinn NP, Speelman JD, Benabid AL, Fraix V, Mendes A, Welter ML, Houeto JL, Cornu P, Dormont D, Tornqvist AL, Ekberg R, Schnitzler A, Timmermann L, Wojtecki L, Gironell A, Rodriguez-Oroz MC, Guridi J, Bentivoglio AR, Contarino MF, Romito L, Scerrati M, Janssens M, and Lang AE
- Subjects
- Aged, Cross-Over Studies, Double-Blind Method, Female, Follow-Up Studies, Humans, Male, Middle Aged, Severity of Illness Index, Time Factors, Treatment Outcome, Deep Brain Stimulation, Globus Pallidus physiology, Parkinson Disease therapy, Subthalamus physiology
- Abstract
We report the 5 to 6 year follow-up of a multicenter study of bilateral subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation (DBS) in advanced Parkinson's disease (PD) patients. Thirty-five STN patients and 16 GPi patients were assessed at 5 to 6 years after DBS surgery. Primary outcome measure was the stimulation effect on the motor Unified Parkinson's Disease Rating Scale (UPDRS) assessed with a prospective cross-over double-blind assessment without medications (stimulation was randomly switched on or off). Secondary outcomes were motor UPDRS changes with unblinded assessments in off- and on-medication states with and without stimulation, activities of daily living (ADL), anti-PD medications, and dyskinesias. In double-blind assessment, both STN and GPi DBS were significantly effective in improving the motor UPDRS scores (STN, P < 0.0001, 45.4%; GPi, P = 0.008, 20.0%) compared with off-stimulation, regardless of the sequence of stimulation. In open assessment, both STN- and GPi-DBS significantly improved the off-medication motor UPDRS when compared with before surgery (STN, P < 0.001, 50.5%; GPi, P = 0.002, 35.6%). Dyskinesias and ADL were significantly improved in both groups. Anti-PD medications were significantly reduced only in the STN group. Adverse events were more frequent in the STN group. These results confirm the long-term efficacy of STN and GPi DBS in advanced PD. Although the surgical targets were not randomized, there was a trend to a better outcome of motor signs in the STN-DBS patients and fewer adverse events in the GPi-DBS group., ((c) 2010 Movement Disorder Society.)
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- 2010
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30. Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
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Ferraris A, Ialongo T, Passali GC, Pellecchia MT, Brusa L, Laruffa M, Guidubaldi A, Paludetti G, Albanese A, Barone P, Dallapiccola B, Valente EM, and Bentivoglio AR
- Subjects
- Adolescent, Adult, Aged, Female, Humans, Male, Middle Aged, Odorants, Olfaction Disorders diagnosis, Olfaction Disorders etiology, Parkinsonian Disorders complications, Sensory Thresholds physiology, Smell genetics, Young Adult, Genetic Predisposition to Disease, Olfaction Disorders genetics, Parkinsonian Disorders genetics, Protein Kinases genetics
- Abstract
Hyposmia is a common nonmotor feature of Parkinson's disease (PD) and has been variably detected in monogenic Parkinsonisms. To assess olfactory dysfunction in PINK1-related Parkinsonism, we evaluated olfactory detection threshold, odor discrimination, and odor identification in five groups of subjects: sporadic PD (n = 19), PINK1 homozygous (n = 7), and heterozygous (n = 6) parkinsonian patients, asymptomatic PINK1 heterozygous carriers (n = 12), and Italian healthy subjects (n = 67). All affected subjects and all healthy heterozygotes but one resulted hyposmic, with most patients in the range of functional anosmia or severe hyposmia. Detection threshold was more preserved and discrimination more impaired in patients with PINK1 mutations than in PD cases. Alterations of detection and discrimination were observed also in PINK1 asymptomatic heterozygotes. On the contrary, odor identification appeared to be mostly related to the disease status, as it was impaired in nearly all patients (including PD and PINK1 cases) and preserved in healthy heterozygotes. Our data indicate that olfactory dysfunction is common in PINK1 Parkinsonism and consists typically in defective odor identification and discrimination. A milder olfactory deficit, mostly involving discrimination, can be found in asymptomatic heterozygotes, possibly indicating an underlying preclinical neurodegenerative process., ((c) 2009 Movement Disorder Society.)
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- 2009
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31. Mutation screening of the DYT6/THAP1 gene in Italy.
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Bonetti M, Barzaghi C, Brancati F, Ferraris A, Bellacchio E, Giovanetti A, Ialongo T, Zorzi G, Piano C, Petracca M, Albanese A, Nardocci N, Dallapiccola B, Bentivoglio AR, Garavaglia B, and Valente EM
- Subjects
- Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, Child, Preschool, Cohort Studies, Female, Genetic Testing methods, Humans, Infant, Italy epidemiology, Male, Middle Aged, Young Adult, Apoptosis Regulatory Proteins genetics, DNA-Binding Proteins genetics, Dystonia Musculorum Deformans genetics, Mutation genetics, Nuclear Proteins genetics
- Abstract
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., ((c) 2009 Movement Disorder Society.)
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- 2009
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32. Is this dystonia?
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Albanese A and Lalli S
- Subjects
- Diagnosis, Differential, Dystonia classification, Dystonia complications, Humans, Posture, Dystonia diagnosis
- Abstract
Torsion dystonia is characterized by sustained muscle contractions causing twisting and repetitive movements and abnormal postures. The diagnosis can be made difficult, delayed, and often misled by several factors: variability of dystonia presentation, uncertain recognition of the specific physical signs, lack of diagnostic tests, wide etiological spectrum, and coexistence of other movement disorders. Diagnostic tools are of limited assistance for the diagnosis of dystonia, which remains based on clinical diagnostic skills. We propose here, a new diagnostic algorithm to systematize the clinical diagnostic workout. A correct recognition of the physical signs that constitute the hallmark of most dystonia syndromes provides the grounds to perform a structured diagnostic sequence and share a consistent methodology. This clinical algorithm may be enhanced by adding diagnostic tools for dystonia, once their diagnostic value is assessed.
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- 2009
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33. Long-term effects of pallidal or subthalamic deep brain stimulation on quality of life in Parkinson's disease.
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Volkmann J, Albanese A, Kulisevsky J, Tornqvist AL, Houeto JL, Pidoux B, Bonnet AM, Mendes A, Benabid AL, Fraix V, Van Blercom N, Xie J, Obeso J, Rodriguez-Oroz MC, Guridi J, Schnitzler A, Timmermann L, Gironell AA, Molet J, Pascual-Sedano B, Rehncrona S, Moro E, Lang AC, Lozano AM, Bentivoglio AR, Scerrati M, Contarino MF, Romito L, Janssens M, and Agid Y
- Subjects
- Activities of Daily Living, Aged, Deep Brain Stimulation, Emotions physiology, Female, Humans, Longitudinal Studies, Male, Middle Aged, Neuropsychological Tests, Sickness Impact Profile, Statistics, Nonparametric, Surveys and Questionnaires, Time Factors, Globus Pallidus physiology, Parkinson Disease psychology, Parkinson Disease therapy, Quality of Life psychology, Subthalamic Nucleus physiology
- Abstract
We assessed the effects of deep brain stimulation of the subthalamic nucleus (STN-DBS) or internal pallidum (GPi-DBS) on health-related quality of life (HrQoL) in patients with advanced Parkinson's disease participating in a previously reported multicenter trial. Sickness Impact Profile (SIP) questionnaires were available for analysis in a subgroup of n = 20/20 patients with GPi-DBS and n = 45/49 patients with STN-DBS at baseline, 6 and 36 months. The SIP provides a physical dimension and a psychosocial dimension sum score and 12 category scores: Alertness/Intellectual Behavior (AIB), Ambulation (A), Body Care and Movement (BCM), Communication (C), Eating (E), Emotional Behavior (EB), Home Management (HM), Mobility (M), Recreation and Pastimes (RP), Sleep and Rest (SR), Social Interaction (SI), and Work (W). Motor functioning was assessed by means of the Unified Parkinson's Disease Rating Scale and diaries. At 6 months significant improvements in off-period motor symptoms and activities of daily living were paralleled by significant reductions in the total, physical, and psychosocial SIP score in both treatment groups. At 3 years, sustained improvements were observed in the physical dimension score, BCM, E, M, RP after STN-DBS and M, SI after GPi-DBS. All other SIP subscores approached baseline values, but were still the same or better (except C) whereas motor functioning remained stable after 36 months. STN-DBS and GPi-DBS led to significant early improvements in HrQoL. Despite sustained motor improvements many of these initial benefits were lost after 3 years. This may reflect either progression of the disease or adaptive changes in the subjective perception of health-related wellbeing over time., ((c) 2009 Movement Disorder Society.)
- Published
- 2009
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34. Botulinum neurotoxins for post-stroke spasticity in adults: a systematic review.
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Elia AE, Filippini G, Calandrella D, and Albanese A
- Subjects
- Humans, Anti-Dyskinesia Agents therapeutic use, Botulinum Toxins therapeutic use, Muscle Spasticity drug therapy, Muscle Spasticity etiology, Stroke complications
- Abstract
The aim of this systematic review was to determine whether botulinum neurotoxin (BoNT) reduce spasticity or improve function in adult patients after stroke. Eleven double-blind randomized placebo-controlled trials met inclusion criteria. They encompassed 782 patients, 767 (98%) of whom received BoNT/A, and 15 (2%) BoNT/B. Most studies used the Ashworth scale as primary outcome measure. Differences between treated and control groups were assessed as categorical or continuous comparisons. The overall effect on upper limb spasticity was in favor of BoNT/A. A significantly higher number of patients had a reduction of upper limb spasticity at 4-week and 8-week evaluations in the treatment group compared with placebo. Mean changes in joint spasticity revealed improvement 3 to 6 weeks and 9 to 12 weeks after treatment. There were insufficient data to establish BoNT/A efficacy on lower limb spasticity or the effect of BoNT/B on the upper and lower limbs. Because of inconsistency and heterogeneity of the available data, it was not possible to perform a meta-analysis on disability and patients' reported outcomes. There was an overlapping safety profile between the treatment and the placebo groups. BoNT/A reduces upper limb spasticity in patients post-stroke, but the improvement in functional ability remains to be established. This gap needs to be filled by new studies to assess the effect of BoNT in the context of multidisciplinary patient management., ((c) 2009 Movement Disorder Society.)
- Published
- 2009
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35. Replacement of dopaminergic medication with subthalamic nucleus stimulation in Parkinson's disease: long-term observation.
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Romito LM, Contarino MF, Vanacore N, Bentivoglio AR, Scerrati M, and Albanese A
- Subjects
- Disability Evaluation, Dopamine Agents therapeutic use, Electrodes, Implanted, Female, Humans, Levodopa therapeutic use, Longitudinal Studies, Male, Motor Activity drug effects, Motor Activity physiology, Parkinson Disease physiopathology, Severity of Illness Index, Time Factors, Treatment Outcome, Deep Brain Stimulation methods, Parkinson Disease therapy, Subthalamic Nucleus physiology
- Abstract
Stimulation of the subthalamic nucleus (STN) is an effective treatment for advanced Parkinson's disease (PD), but the medication requirements after implant are poorly known. We performed a long-term prospective evaluation of 20 patients maintained at stable dopaminergic therapy for 5 years after bilateral STN implants, who were evaluated 6 months, 1 year, 3 years, and 5 years after surgery. We measured, during the entire observation period, the effect of deep brain stimulation on motor and functional outcome measures, the levodopa equivalent daily dose and the total electrical energy delivered. At 5 years, the UPDRS motor score had improved by 54.2% and levodopa equivalent dose was reduced by 61.9%, compared with preimplant. Dopaminergic medication remained stable during the observation period, but energy was progressively increased over time. Rest tremor, rigidity, gait, lower and upper limb akinesia, and total axial score were improved in decreasing order. Postural stability and speech improved transiently, whereas on-period freezing of gait, motor fluctuations and dyskinesias recovered durably. Functional measures did not show improvement in autonomy and daily living activities after STN implant. Chronic STN stimulation allows to replace for dopaminergic medications in the long-term at the expense of an increase of the total energy delivered. This is associated with marked improvement of motor features without a matching benefit in functional measures.
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- 2009
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36. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
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Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, and Franceschetti S
- Subjects
- Acoustic Stimulation methods, Adolescent, Adult, Child, Electric Stimulation methods, Electroencephalography methods, Electromyography methods, Evoked Potentials, Somatosensory physiology, Female, Humans, Male, Mutation, Neural Conduction physiology, Reaction Time physiology, Reflex physiology, Sarcoglycans genetics, Transcranial Magnetic Stimulation methods, Young Adult, Dystonic Disorders complications, Dystonic Disorders genetics, Myoclonus complications, Myoclonus genetics, Neurophysiology methods
- Abstract
Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo-rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a "startle-like" muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas., ((c) 2008 Movement Disorder Society.)
- Published
- 2008
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37. Red flags for multiple system atrophy.
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Köllensperger M, Geser F, Seppi K, Stampfer-Kountchev M, Sawires M, Scherfler C, Boesch S, Mueller J, Koukouni V, Quinn N, Pellecchia MT, Barone P, Schimke N, Dodel R, Oertel W, Dupont E, Østergaard K, Daniels C, Deuschl G, Gurevich T, Giladi N, Coelho M, Sampaio C, Nilsson C, Widner H, Sorbo FD, Albanese A, Cardozo A, Tolosa E, Abele M, Klockgether T, Kamm C, Gasser T, Djaldetti R, Colosimo C, Meco G, Schrag A, Poewe W, and Wenning GK
- Subjects
- Aged, Cerebellar Ataxia diagnosis, Cohort Studies, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Multiple System Atrophy classification, Parkinson Disease classification, Parkinsonian Disorders classification, Sensitivity and Specificity, Shy-Drager Syndrome diagnosis, Multiple System Atrophy diagnosis, Neurologic Examination statistics & numerical data, Parkinson Disease diagnosis, Parkinsonian Disorders diagnosis
- Abstract
The clinical diagnosis of multiple system atrophy (MSA) is fraught with difficulty and there are no pathognomonic features to discriminate the parkinsonian variant (MSA-P) from Parkinson's disease (PD). Besides the poor response to levodopa, and the additional presence of pyramidal or cerebellar signs (ataxia) or autonomic failure as major diagnostic criteria, certain other clinical features known as "red flags" or warning signs may raise the clinical suspicion of MSA. To study the diagnostic role of these features in MSA-P versus PD patients, a standardized red flag check list (RFCL) developed by the European MSA Study Group (EMSA-SG) was administered to 57 patients with probable MSA-P and 116 patients with probable PD diagnosed according to established criteria. Those red flags with a specifity over 95% were selected for further analysis. Factor analysis was applied to reduce the number of red flags. The resulting set was then applied to 17 patients with possible MSA-P who on follow-up fulfilled criteria of probable MSA-P. Red flags were grouped into related categories. With two or more of six red flag categories present specificity was 98.3% and sensitivity was 84.2% in our cohort. When applying these criteria to patients with possible MSA-P, 76.5% of them would have been correctly diagnosed as probable MSA-P 15.9 (+/-7.0) months earlier than with the Consensus criteria alone. We propose a combination of two out of six red flag categories as additional diagnostic criteria for probable MSA-P., ((c) 2008 Movement Disorder Society)
- Published
- 2008
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38. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
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Marongiu R, Ferraris A, Ialongo T, Michiorri S, Soleti F, Ferrari F, Elia AE, Ghezzi D, Albanese A, Altavista MC, Antonini A, Barone P, Brusa L, Cortelli P, Martinelli P, Pellecchia MT, Pezzoli G, Scaglione C, Stanzione P, Tinazzi M, Zecchinelli A, Zeviani M, Cassetta E, Garavaglia B, Dallapiccola B, Bentivoglio AR, and Valente EM
- Subjects
- Adult, Aged, Aged, 80 and over, Amino Acid Sequence, Case-Control Studies, Female, Gene Frequency, Genes, Recessive, Heterozygote, Humans, Italy, Male, Middle Aged, Molecular Sequence Data, Parkinson Disease enzymology, Phenotype, Retrospective Studies, Sequence Homology, Amino Acid, Genetic Variation, Parkinson Disease genetics, Protein Kinases genetics
- Abstract
Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls. Their pathogenic significance is uncertain, but they have been suggested to represent risk factors to develop Parkinson disease (PD). The few large studies that assessed the frequency of PINK1 heterozygotes in cases and controls yielded controversial results, and the phenotypic spectrum is largely unknown. We retrospectively analyzed the occurrence of PINK1 heterozygous rare variants in over 1100 sporadic and familial patients of all onset ages and in 400 controls. Twenty patients and 6 controls were heterozygous, with frequencies (1.8% vs. 1.5%) not significantly different in the two groups. Clinical features of heterozygotes were indistinguishable to those of wild-type patients, with mean disease onset 10 years later than in carriers of two mutations but worse disease progression. A meta-analysis indicated that, in PINK1 heterozygotes, the PD risk is only slightly increased with a non significant odds ratio of 1.62. These findings suggest that PINK1 heterozygous rare variants play only a minor susceptibility role in the context of a multifactorial model of PD. Hence, their significance should be kept distinct from that of homozygous/compound heterozygous mutations, that cause parkinsonism inherited in a mendelian fashion., ((c) 2008 Wiley-Liss, Inc.)
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- 2008
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39. Mood disorder following DBS of the left amygdaloid region in a dystonia patient with a dislodged electrode.
- Author
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Piacentini S, Romito L, Franzini A, Granato A, Broggi G, and Albanese A
- Subjects
- Adult, Electrodes, Implanted, Equipment Failure, Humans, Male, Mood Disorders diagnosis, Amygdala, Deep Brain Stimulation adverse effects, Dystonia therapy, Functional Laterality physiology, Mood Disorders etiology, Mood Disorders psychology
- Abstract
Continuous high-frequency stimulation of the globus pallidum internum (GPi) is an accepted treatment for patients with primary dystonia. In a series of 18 consecutive dystonia cases that were successfully treated by bilateral GPi stimulation, 1 patient had an adverse event involving the downward migration of the electrodes. He developed remarkable behavioral complications and was found to have dislodgement of the left electrode to a position close to the left amygdala. The patient developed behavioral changes consisting of depression, psychotic symptoms, and heightened pain perception. This syndrome reverted when the left electrode was removed and a new one inserted in the correct position. We describe in detail the clinical features associated with left amygdala dysregulation induced by high-frequency stimulation through the displaced electrode., (2007 Movement Disorder Society)
- Published
- 2008
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40. Normal cardiovascular reflex testing in patients with parkin disease.
- Author
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Del Sorbo F, Elia AE, De Joanna G, Romito LM, Garavaglia B, and Albanese A
- Subjects
- Adult, Female, Heart Rate physiology, Humans, Male, Middle Aged, Parkinsonian Disorders epidemiology, Point Mutation genetics, Severity of Illness Index, Shy-Drager Syndrome diagnosis, Shy-Drager Syndrome epidemiology, Shy-Drager Syndrome physiopathology, Surveys and Questionnaires, Valsalva Maneuver physiology, Cardiovascular System, Parkinsonian Disorders diagnosis, Parkinsonian Disorders genetics, Reflex physiology, Sympathetic Nervous System physiology, Ubiquitin-Protein Ligases genetics
- Abstract
The objective of this study was to investigate cardiovascular autonomic function in patients with parkin disease. Ten patients with a genetically confirmed diagnosis were compared to 11 healthy controls. Symptoms related to autonomic dysfunction were collected by structured interviews. Cardiovascular autonomic reflex function was evaluated using a standard battery of eight tests. Autonomic tests included the study of sympathetic function through the analysis of blood pressure responses to head-up tilt, standing, isometric hand grip, cold pressor, mental arithmetic, Valsalva maneuver (Valsalva overshoot), and the study of parasympathetic function through the analysis of heart rate responses to deep breathing, hyperventilation, and Valsalva ratio. Seven out of 10 patients reported symptoms involving different aspects of autonomic function, while 5 out of 11 controls reported symptoms related exclusively to orthostatic dizziness and constipation. Symptoms related to bladder dysfunction were the most frequent autonomic abnormality occurring in six patients, followed by orthostatic dizziness and dry mouth (in four patients each). Constipation occurred in three patients, sialorrhea in two, and erectile dysfunction, dry eye, and warm intolerance in one each. Cardiovascular reflex testing revealed no difference between patients and controls in quantitative assessment of both sympathetic and parasympathetic functions, except for diastolic blood pressure after isometric hand grip that did not increase normally in parkin patients compared to controls (P = 0.007). These data show that cardiovascular dysautonomia is not associated to the parkin phenotype, whereas urinary complaints are more frequently reported by parkin patients than by controls. Urinary dysautonomia warrants further investigation in patients with parkin disease., ((c) 2006 Movement Disorder Society.)
- Published
- 2007
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41. Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
- Author
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Fasano A, Nardocci N, Elia AE, Zorzi G, Bentivoglio AR, and Albanese A
- Subjects
- Adolescent, Adult, Age Factors, Aged, Child, Chromosome Deletion, Disability Evaluation, Disease Progression, Female, Humans, Male, Middle Aged, Neurologic Examination, Torticollis diagnosis, Torticollis genetics, Trinucleotide Repeats, Dystonia Musculorum Deformans diagnosis, Dystonia Musculorum Deformans genetics, Molecular Chaperones genetics, Phenotype
- Abstract
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disease duration, site of dystonia onset and distribution at latest examination, dystonia progression, time to generalization, and motor disability were noted. The 14 patients (25%) with GAG deletion (904_906/907_909delGAG) in the DYT1 gene were compared with the remaining non-DYT1 patients. Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. DYT1 cases had features similar to sporadic non-DYT1 cases but differed markedly from familial non-DYT1 cases, the latter having later age at onset, less common limb onset, more frequent cervical involvement, and slower progression than DYT1 PTD. These findings indicate that non-DYT1 forms of EO-PTD differ clinically from those of DYT1 forms. Cranial involvement before 21 years of age is the strongest predictor of non-DYT1 status. Positive family history and cervical involvement are associated with less severe progression in non-DYT1 forms., ((c) 2006 Movement Disorder Society.)
- Published
- 2006
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42. Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
- Author
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Marongiu R, Ghezzi D, Ialongo T, Soleti F, Elia A, Cavone S, Albanese A, Altavista MC, Barone P, Brusa L, Cortelli P, Petrozzi L, Scaglione C, Stanzione P, Tinazzi M, Zeviani M, Dallapiccola B, Bentivoglio AR, Valente EM, and Garavaglia B
- Subjects
- Amino Acid Substitution, Female, Gene Frequency, Genetic Carrier Screening, Humans, Italy, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Parkinson Disease enzymology, Phenotype, Mutation, Parkinson Disease genetics, Protein Serine-Threonine Kinases genetics
- Abstract
To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only probands with autosomal dominant inheritance, the G2019S frequency raises to 5.2%. All presented a typical phenotype with variable onset and shared the common ancestral haplotype. Mutation frequency raised from 1.2% in early onset PD to 4.0% in late onset PD., ((c) 2006 Movement Disorder Society)
- Published
- 2006
- Full Text
- View/download PDF
43. Analysis of blink rate in patients with blepharospasm.
- Author
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Bentivoglio AR, Daniele A, Albanese A, Tonali PA, and Fasano A
- Subjects
- Humans, Reference Values, Videotape Recording, Blepharospasm physiopathology, Blinking
- Abstract
The blink rate (BR) during rest, conversation, and reading was assessed in 50 patients with blepharospasm (BS) and in 150 healthy subjects. BR at rest and during conversation was higher in patients with BS. Moreover, 76% of patients had BR higher at rest than during conversation, whereas in 74% of controls, BR was higher during conversation than at rest. The sensitivity and specificity of two parameters (value of BR at rest and pattern rest-BR higher than conversation-BR) in discriminating patients and controls were computed. The best fit was obtained with a rest-BR above 27 blinks per minute. When the two parameters were combined (rest-BR above 27 blinks per minute together with the pattern rest-BR higher than conversation-BR), we obtained a 92.3% sensitivity and a 82.0% specificity in discriminating between BS patients and controls. These findings indicate that specific features of BR can be associated with BS, suggesting that the analysis of BR might be helpful for the diagnosis of BS in early stages., ((c) 2006 Movement Disorder Society)
- Published
- 2006
- Full Text
- View/download PDF
44. Health-related quality of life in multiple system atrophy.
- Author
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Schrag A, Geser F, Stampfer-Kountchev M, Seppi K, Sawires M, Köllensperger M, Scherfler C, Quinn N, Pellecchia MT, Barone P, Del Sorbo F, Albanese A, Ostergaard K, Dupont E, Cardozo A, Tolosa E, Nilsson CF, Widner H, Lindvall O, Giladi N, Gurevich T, Daniels C, Deuschl G, Coelho M, Sampaio C, Abele M, Klockgether T, Schimke N, Eggert KM, Oertel W, Djaldetti R, Colosimo C, Meco G, Poewe W, and Wenning GK
- Subjects
- Anxiety epidemiology, Cohort Studies, Depression epidemiology, Disability Evaluation, Europe, Humans, Motor Activity, Multiple System Atrophy psychology, Pain, Parkinson Disease physiopathology, Parkinson Disease psychology, Self Care, Surveys and Questionnaires, White People, Health Status, Multiple System Atrophy physiopathology, Quality of Life
- Abstract
Although multiple system atrophy (MSA) is a neurodegenerative disorder leading to progressive disability and decreased life expectancy, little is known about patients' own evaluation of their illness and factors associated with poor health-related quality of life (Hr-QoL). We, therefore, assessed Hr-QoL and its determinants in MSA. The following scales were applied to 115 patients in the European MSA-Study Group (EMSA-SG) Natural History Study: Medical Outcome Study Short Form (SF-36), EQ-5D, Beck Depression Inventory (BDI), Mini-Mental state examination (MMSE), Unified MSA Rating Scale (UMSARS), Hoehn & Yahr (H&Y) Parkinson's disease staging scale, Composite Autonomic Symptom Scale (COMPASS), and Parkinson's Disease Sleep Scale (PDSS). Forty-six percent of patients had moderate to severe depression (BDI > or = 17); Hr-QoL scores on the SF-36 and EQ-5D were significantly impaired. Pain, the only domain with similar scores in MSA and published PD patients, was reported more frequently in patients with MSA-P (predominantly parkinsonian motor subtype) than MSA-C (predominantly cerebellar motor subtype; 76% vs. 50%; P = 0.005). Hr-QoL scores correlated most strongly with UMSARS motor, COMPASS, and BDI scores but not with MMSE scores, age at onset, or disease duration. The COMPASS and UMSARS activities of daily living scores were moderate-to-strong predictors for the SF-36 physical summary score and the BDI and UMSARS motor scores for the SF-36 mental summary score. This report is the first study to show that Hr-QoL is significantly impaired in MSA. Although not all possible factors related to impaired Hr-QoL in MSA could be assessed, autonomic dysfunction, motor impairment, and depression were most closely associated with poor Hr-QoL, and therapeutic management, therefore, should concentrate upon these aspects of the disease.
- Published
- 2006
- Full Text
- View/download PDF
45. Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.
- Author
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Marelli C, Piacentini S, Garavaglia B, Girotti F, and Albanese A
- Subjects
- Adult, Attention physiology, Cognition Disorders physiopathology, Dystonia pathology, Humans, Magnetic Resonance Imaging methods, Male, Mental Status Schedule, Mutation, Missense genetics, Neuropsychological Tests statistics & numerical data, Problem Solving physiology, Dystonia genetics, Dystonia physiopathology, Phosphotransferases (Alcohol Group Acceptor) genetics, Siblings
- Abstract
Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini-Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive-compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia-thalamocortical circuits., (Copyright 2004 Movement Disorder Society.)
- Published
- 2005
- Full Text
- View/download PDF
46. PINK1 mutations are associated with sporadic early-onset parkinsonism.
- Author
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Valente EM, Salvi S, Ialongo T, Marongiu R, Elia AE, Caputo V, Romito L, Albanese A, Dallapiccola B, and Bentivoglio AR
- Subjects
- Adult, Age of Onset, Aged, Female, Gene Dosage, Humans, Male, Middle Aged, Polymorphism, Genetic genetics, Mutation, Parkinsonian Disorders enzymology, Parkinsonian Disorders genetics, Protein Kinases genetics
- Abstract
We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in five patients only one mutation was identified. Age at onset was in the fourth-fifth decade (range, 37-47 years). The clinical picture was characterized by a typical parkinsonian phenotype with asymmetric onset and rare occurrence of atypical features. Slow progression and excellent response to levodopa were observed in all subject. Two of 200 healthy control individuals also carried one heterozygous missense mutation. The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified.
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- 2004
- Full Text
- View/download PDF
47. Levodopa in the treatment of Parkinson's disease: current controversies.
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Olanow CW, Agid Y, Mizuno Y, Albanese A, Bonuccelli U, Damier P, De Yebenes J, Gershanik O, Guttman M, Grandas F, Hallett M, Hornykiewicz O, Jenner P, Katzenschlager R, Langston WJ, LeWitt P, Melamed E, Mena MA, Michel PP, Mytilineou C, Obeso JA, Poewe W, Quinn N, Raisman-Vozari R, Rajput AH, Rascol O, Sampaio C, and Stocchi F
- Subjects
- Antiparkinson Agents pharmacokinetics, Antiparkinson Agents therapeutic use, Corpus Striatum drug effects, Corpus Striatum metabolism, Dyskinesia, Drug-Induced etiology, Humans, Levodopa pharmacokinetics, Levodopa therapeutic use, Receptors, Dopamine drug effects, Receptors, Dopamine metabolism, Antiparkinson Agents adverse effects, Levodopa adverse effects, Parkinson Disease drug therapy
- Abstract
Levodopa is the most effective symptomatic agent in the treatment of Parkinson's disease (PD) and the "gold standard" against which new agents must be compared. However, there remain two areas of controversy: (1) whether levodopa is toxic, and (2) whether levodopa directly causes motor complications. Levodopa is toxic to cultured dopamine neurons, and this may be a problem in PD where there is evidence of oxidative stress in the nigra. However, there is little firm evidence to suggest that levodopa is toxic in vivo or in PD. Clinical trials have not clarified this situation. Levodopa is also associated with motor complications. Increasing evidence suggests that they are related, at least in part, to the short half-life of the drug (and its potential to induce pulsatile stimulation of dopamine receptors) rather than to specific properties of the molecule. Treatment strategies that provide more continuous stimulation of dopamine receptors provide reduced motor complications in MPTP monkeys and PD patients. These studies raise the possibility that more continuous and physiological delivery of levodopa might reduce the risk of motor complications. Clinical trials to test this hypothesis are underway. We review current evidence relating to these areas of controversy.
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- 2004
- Full Text
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48. Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene.
- Author
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Rossi G, Gasparoli E, Pasquali C, Di Fede G, Testa D, Albanese A, Bracco F, and Tagliavini F
- Subjects
- Asparagine genetics, Humans, Parkinson Disease complications, Supranuclear Palsy, Progressive complications, Mutation, Parkinson Disease genetics, Supranuclear Palsy, Progressive genetics, tau Proteins genetics
- Published
- 2004
- Full Text
- View/download PDF
49. Treatment with botulinum neurotoxin of gastrointestinal smooth muscles and sphincters spasms.
- Author
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Brisinda G, Bentivoglio AR, Maria G, and Albanese A
- Subjects
- Enteric Nervous System drug effects, Enteric Nervous System physiopathology, Humans, Muscle, Smooth drug effects, Pain drug therapy, Pain etiology, Treatment Outcome, Anti-Dyskinesia Agents therapeutic use, Botulinum Toxins therapeutic use, Gastrointestinal Diseases drug therapy, Spasm drug therapy
- Abstract
Local injections of botulinum neurotoxin are now considered an efficacious treatment for neurological and non-neurological conditions. One of the most recent achievements in the field is the observation that botulinum neurotoxin provides benefit in diseases of the gastrointestinal tract. Botulinum neurotoxin inhibits contraction of gastrointestinal smooth muscles and sphincters; it has also been shown that the neurotoxin blocks cholinergic nerve endings in the autonomic nervous system, but it does not block nonadrenergic responses mediated by nitric oxide. This aspect has further promoted the interest to use botulinum neurotoxin as a treatment for overactive smooth muscles, such as the anal sphincters to treat anal fissure and outlet-type constipation, or the lower esophageal sphincter to treat esophageal achalasia. Knowledge of the anatomical and functional organization of innervation of the gastrointestinal tract is a prerequisite to understanding many features of botulinum neurotoxin action on the gut and the effects of injections placed into specific sphincters. This review presents current data on the use of botulinum neurotoxin to treat diseases of the gastrointestinal tract and summarizes recent knowledge on the pathogenesis of disorders of the gut due to a dysfunction of the enteric nervous system., (Copyright 2004 Movement Disorder Society)
- Published
- 2004
- Full Text
- View/download PDF
50. Phenotypic characterization of DYT13 primary torsion dystonia.
- Author
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Bentivoglio AR, Ialongo T, Contarino MF, Valente EM, and Albanese A
- Subjects
- Activities of Daily Living classification, Adolescent, Adult, Aged, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 1, Disability Evaluation, Dystonia Musculorum Deformans diagnosis, Dystonic Disorders diagnosis, Female, Follow-Up Studies, Histone Acetyltransferases, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Penetrance, Chromosome Aberrations, Dystonia Musculorum Deformans genetics, Dystonic Disorders genetics, Genes, Dominant genetics, Phenotype, TATA-Binding Protein Associated Factors genetics, Transcription Factor TFIID genetics
- Abstract
We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re-evaluated in March 2000: at that time, 3 more individuals had developed symptoms of dystonia. Inheritance of PTD was autosomal dominant, with affected individuals spanning three consecutive generations and male-to-male transmission. Age at onset ranged from 5 to 43 years. Onset occurred either in the craniocervical region or in upper limbs. Progression was mild, and the disease course was benign in most affected individuals; generalization occurred only in 2 cases. We did not find anticipation of age at onset or of disease severity through generations. Most subjects presented with jerky, myoclonic-like dystonic movements of the neck or shoulders. DYT13-PTD is an autosomal dominant disease, with incomplete penetrance (58%). Clinical presentation and age at onset were more variable than in DYT1-PTD, and the neck was involved in most of those affected. Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13-PTD.
- Published
- 2004
- Full Text
- View/download PDF
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