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Article ; Online: Dystonic Tremor: Time to Change.

Lalli, Stefania / Albanese, Alberto

Movement disorders clinical practice

2024

Abstract: Background: The term dystonic tremor is being increasingly used in neurological publications despite uncertainties about its meaning. We provide here a historical reconstruction from its original introduction in 1984 to help distinguish dystonia from ... ...

Abstract	Background: The term dystonic tremor is being increasingly used in neurological publications despite uncertainties about its meaning. We provide here a historical reconstruction from its original introduction in 1984 to help distinguish dystonia from essential tremor. Methods: A comprehensive Pubmed search of MeSH terms "dystonia", "tremor", and "essential tremor" provided the information base for reconstructing historical usage of the term "dystonic tremor". Results: Over the years, this expression was enriched of additional meanings and sided by companion descriptors, such as tremor associated with dystonia. Dystonic tremor has been considered characteristically coarse, jerky, irregular, directional and asymmetrical. These characteristics, however, are not included in the most recent definitions of tremor. The relationship between tremor and dystonia is not easy to untangle, as the two phenomena are often recognized in association. Tremor and dystonia experts have developed different visions of dystonic tremor that have been variably implemented. There are currently two independent consensus definitions, which are not coincident and imply different pathophysiological interpretations. Conclusions: This historical reappraisal highlights that usage of the expression dystonic tremor has evolved over time to lose its original meaning. Notwithstanding inconsistencies of current definitions, its usage has steadily increased and it is time now to agree on an updated terminology.
Language	English
Publishing date	2024-04-24
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2330-1619
ISSN (online)	2330-1619
DOI	10.1002/mdc3.14010
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Article ; Online: Review of disease-modifying drug trials in amyotrophic lateral sclerosis.

Tornese, Paolo / Lalli, Stefania / Cocco, Antoniangela / Albanese, Alberto

Journal of neurology, neurosurgery, and psychiatry

2022 Volume 93, Issue 5, Page(s) 521–529

Abstract: We analysed clinical trials of pharmacological interventions on patients with amyotrophic lateral sclerosis (ALS), and compared study quality and design features. The systematic review included articles published in PubMed and trials registered in ... ...

Abstract	We analysed clinical trials of pharmacological interventions on patients with amyotrophic lateral sclerosis (ALS), and compared study quality and design features. The systematic review included articles published in PubMed and trials registered in ClinicalTrials.gov. Included studies were randomised double-blind placebo-controlled clinical trials assessing a disease-modifying pharmacological intervention. Studies were excluded if primary end points were safety or dose finding. A total of 28 735 articles and 721 current trials were identified. 76 published articles and 23 ongoing trials met inclusion criteria; they referred to distinct populations comprising 22 817 participants with ALS. Most articles and all current trials had parallel group design; few articles had cross-over design. A run-in observation period was included in about 20% of published studies and ongoing trials. Primary end points included functional assessment, survival, muscle strength, respiratory function, biomarkers and composite measures. Most recent trials had only functional assessment and survival. Risk of bias was high in 23 articles, moderate in 35, low in 18. A disease modification effect was observed for 10 interventions in phase II studies, two of which were confirmed in phase III. Three confirmatory phase III studies are currently underway. The present review provides cues for the design of future trials. Functional decline and survival, as single or composite measures, stand as the reference end points. Post hoc analyses should not be performed, particularly in studies using composite end points. There is a general agreement on diagnostic criteria; but eligibility criteria must be improved. Run-in observations may be used for censoring patients but are discouraged for refining participants' eligibility. The ALS Functional Rating Scale-Revised needs improvement for use as an ordinal measure of functional decline.
MeSH term(s)	Amyotrophic Lateral Sclerosis/drug therapy ; Humans ; Randomized Controlled Trials as Topic
Language	English
Publishing date	2022-02-28
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	3087-9
ISSN	1468-330X ; 0022-3050
ISSN (online)	1468-330X
ISSN	0022-3050
DOI	10.1136/jnnp-2021-328470
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Ui II Zs.93: Show issues

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Article ; Online: Tauro-Urso-Deoxycholic Acid Trials in Amyotrophic Lateral Sclerosis: What is Achieved and What to Expect.

Lo Giudice, Maria / Cocco, Antoniangela / Reggiardo, Giorgio / Lalli, Stefania / Albanese, Alberto

Clinical drug investigation

2023 Volume 43, Issue 12, Page(s) 893–903

Abstract: Phase II studies on tauro-urso-deoxycholic acid (TUDCA) raised the promise of safety and efficacy in patients with amyotrophic lateral sclerosis, a currently incurable and devastating disease. We review the available evidence on the efficacy and safety ... ...

Abstract	Phase II studies on tauro-urso-deoxycholic acid (TUDCA) raised the promise of safety and efficacy in patients with amyotrophic lateral sclerosis, a currently incurable and devastating disease. We review the available evidence on the efficacy and safety of TUDCA, administered alone or in combination, by analyzing and comparing published and ongoing studies on amyotrophic lateral sclerosis. Two independent phase II studies (using TUDCA solo or combined with sodium phenylbutyrate) showed similar efficacy in slowing disease progression measured by functional scales. One open-label follow-up TUDCA+sodium phenylbutyrate study suggested a benefit on survival. Two subsequent phase III studies with TUDCA (solo or combined with sodium phenylbutyrate) have been initiated and are currently ongoing. Their completion is expected by the end of 2023 and beginning of 2024. Evidence collected by phase II studies indicates that there are no safety concerns in patients with amyotrophic lateral sclerosis. The efficacy shown in phase II studies was considered sufficient to grant approval in some countries but not in others, owing to discrepant views on the strength of evidence. It will be necessary to wait for the results of ongoing phase III studies to attain a full appreciation of these data.
MeSH term(s)	Humans ; Amyotrophic Lateral Sclerosis/drug therapy ; Phenylbutyrates ; Taurochenodeoxycholic Acid/adverse effects
Chemical Substances	4-phenylbutyric acid (7WY7YBI87E) ; ursodoxicoltaurine (60EUX8MN5X) ; Phenylbutyrates ; Taurochenodeoxycholic Acid (516-35-8)
Language	English
Publishing date	2023-11-16
Publishing country	New Zealand
Document type	Journal Article ; Review
ZDB-ID	1220136-4
ISSN	1179-1918 ; 0114-2402 ; 1173-2563
ISSN (online)	1179-1918
ISSN	0114-2402 ; 1173-2563
DOI	10.1007/s40261-023-01324-0
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Zs.A 2807: Show issues

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Article: Cox regression and survival analysis from the tauro-urso-deoxycholic trial in amyotrophic lateral sclerosis.

Reggiardo, Giorgio / Lo Giudice, Maria / Lalli, Stefania / Rinaldi, Gilberto / Albanese, Alberto

Frontiers in neurology

2023 Volume 14, Page(s) 1163855

Abstract: Recent phase II pilot clinical trials suggested that tauro-urso-deoxycholic acid (TUDCA) might slow functional decline and increase survival in patients with amyotrophic lateral sclerosis (ALS). We performed a multivariate analysis of the original TUDCA ... ...

Abstract	Recent phase II pilot clinical trials suggested that tauro-urso-deoxycholic acid (TUDCA) might slow functional decline and increase survival in patients with amyotrophic lateral sclerosis (ALS). We performed a multivariate analysis of the original TUDCA cohort to better define the treatment effect and allow comparability with other trials. Linear regression slope analysis showed statistical differences in the decline rate, favoring the active treatment arm (
Language	English
Publishing date	2023-04-20
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2023.1163855
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Article ; Online: Eligibility criteria in clinical trials for cervical dystonia.

Vergallo, Andrea / Cocco, Antoniangela / De Santis, Tiziana / Lalli, Stefania / Albanese, Alberto

Parkinsonism & related disorders

2022 Volume 104, Page(s) 110–114

Abstract: Introduction: Cervical dystonia (CD) is the most common form of adult-onset focal dystonia. Because of a heterogeneous clinical presentation, the diagnosis rests on clinical opinion. During the last decades, several clinical trials have tested safety ... ...

Abstract	Introduction: Cervical dystonia (CD) is the most common form of adult-onset focal dystonia. Because of a heterogeneous clinical presentation, the diagnosis rests on clinical opinion. During the last decades, several clinical trials have tested safety and efficacy of medical and surgical treatments for CD. We analyzed all the published CD trials and reviewed the strategies adopted for patient enrollment. Methods: The review included clinical trials in patients with CD published in PubMed. Studies were excluded if reviews, meta-analyses, post-hoc analyses on pooled data, or if not reporting a treatment for CD. Results: A total of 174 articles were identified; 134 studies met inclusion criteria. Diagnosis of CD varied among studies and in most cases was based on clinical judgement, using different descriptors such as "cervical dystonia" (37 studies), "idiopathic or isolated CD" (35), "primary CD" (13), and "torticollis" (40). Clinical judgement was supported by a phenomenological description of dystonia in four studies, and by a specific diagnostic strategy in other four. Finally, one study adopted general diagnostic criteria for dystonia. Inclusion and exclusion criteria proved heterogeneous across trials and were defined only in 108 studies, mainly considering age or the phenomenological pattern of muscle involvement. Conclusion: The review showed lack of consolidated diagnostic criteria and non-uniformity of eligibility criteria for CD across clinical trials. There is need to move beyond clinical judgement as diagnostic criterion for selecting participants. New trials assessing specific CD patient subgroups or comparing medical and surgical procedures will need grounds that are more consistent.
MeSH term(s)	Adult ; Humans ; Botulinum Toxins, Type A/therapeutic use ; Dystonic Disorders/drug therapy ; Neuromuscular Agents/therapeutic use ; Rest ; Torticollis/therapy ; Torticollis/drug therapy ; Clinical Trials as Topic
Chemical Substances	Botulinum Toxins, Type A (EC 3.4.24.69) ; Neuromuscular Agents
Language	English
Publishing date	2022-10-07
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1311489-x
ISSN	1873-5126 ; 1353-8020
ISSN (online)	1873-5126
ISSN	1353-8020
DOI	10.1016/j.parkreldis.2022.10.003
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Zs.A 4553: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 420: Show issues

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Article ; Online: Parkinsonism and dysautonomia: Multiple system atrophy?

Albanese, Alberto / Cocco, Antoniangela / Milani, Paolo / Lalli, Stefania / Palladini, Giovanni

Parkinsonism & related disorders

2019 Volume 77, Page(s) 146–149

MeSH term(s)	Amyloidosis/diagnosis ; Autonomic Nervous System/pathology ; Autonomic Nervous System Diseases/diagnosis ; Autonomic Nervous System Diseases/pathology ; Humans ; Male ; Middle Aged ; Multiple System Atrophy/diagnosis ; Multiple System Atrophy/pathology ; Parkinsonian Disorders/diagnosis ; Parkinsonian Disorders/pathology ; Primary Dysautonomias/diagnosis ; Primary Dysautonomias/pathology
Language	English
Publishing date	2019-05-03
Publishing country	England
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	1311489-x
ISSN	1873-5126 ; 1353-8020
ISSN (online)	1873-5126
ISSN	1353-8020
DOI	10.1016/j.parkreldis.2019.05.005
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Zs.A 4553: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 420: Show issues

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Article ; Online: Update on dystonia.

Albanese, Alberto / Lalli, Stefania

Current opinion in neurology

2012 Volume 25, Issue 4, Page(s) 483–490

Abstract: Purpose of review: This review considers the recent literature pertaining to the clinical features, genetics, neuropathology and treatment of dystonia syndromes.: Recent findings: The term dystonia indicates at the same time a clinical phenotype and ... ...

Abstract	Purpose of review: This review considers the recent literature pertaining to the clinical features, genetics, neuropathology and treatment of dystonia syndromes. Recent findings: The term dystonia indicates at the same time a clinical phenotype and a collection of neurological syndromes mainly of genetic origin. The physical signs contributing to the phenomenology of dystonia have been recently assembled into a coherent set. The molecular genetics of primary dystonia syndromes (DYT1 and DYT6) have been the object of extensive analysis, providing converging views on their causative mechanisms. The relationship between genotype, phenotype, and endophenotypes has been explored for hereditary and sporadic dystonia syndromes. Neurophysiological studies on DYT1 and DYT6 patients, as well as on nonmanifesting carriers, have demonstrated the presence of altered synaptic plasticity. Several recent data indicate a role of dopamine and acetylcholine (ACh) transmission in the pathophysiology of primary dystonia. Summary: Recent findings have led to novel, testable hypotheses on cellular mechanisms and physiopathological abnormalities underlying dystonia. Neurophysiological studies, imaging data and animal models support the view that corticostriatal, cerebellar, and dopaminergic dysfunctions converge to produce the pathophysiological abnormalities of dystonia.
MeSH term(s)	Dystonia/genetics ; Dystonia/physiopathology ; Dystonia/therapy ; Humans ; Molecular Biology
Language	English
Publishing date	2012-08
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1182686-1
ISSN	1473-6551 ; 1350-7540
ISSN (online)	1473-6551
ISSN	1350-7540
DOI	10.1097/WCO.0b013e3283550c22
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Zs.A 2524: Show issues

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Article ; Online: Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia.

Albanese, Alberto / Di Giovanni, Mario / Amami, Paolo / Lalli, Stefania

Parkinsonism & related disorders

2017 Volume 45, Page(s) 99–100

MeSH term(s)	Deep Brain Stimulation ; Dystonia ; Dystonic Disorders ; Globus Pallidus ; Humans ; Sodium-Potassium-Exchanging ATPase
Chemical Substances	ATP1A3 protein, human ; Sodium-Potassium-Exchanging ATPase (EC 3.6.3.9)
Language	English
Publishing date	2017-09-14
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	1311489-x
ISSN	1873-5126 ; 1353-8020
ISSN (online)	1873-5126
ISSN	1353-8020
DOI	10.1016/j.parkreldis.2017.09.008
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Zs.A 4553: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 420: Show issues

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Article ; Online: Prefrontal Cortical Stimulation in Tourette Disorder: Proof-of-concept Clinical and Neuroimaging Study.

Perani, Daniela / Lalli, Stefania / Iaccarino, Leonardo / Alongi, Pierpaolo / Gambini, Orsola / Franzini, Angelo / Albanese, Alberto

Movement disorders clinical practice

2018 Volume 5, Issue 5, Page(s) 499–505

Abstract: Background: The benefits of neurosurgery in Tourette Syndrome (TS) are still incompletely understood. Prefrontal cortical electrical stimulation offers a less invasive alternative to deep brain stimulation.: Objective: To perform a pilot assessment ... ...

Abstract	Background: The benefits of neurosurgery in Tourette Syndrome (TS) are still incompletely understood. Prefrontal cortical electrical stimulation offers a less invasive alternative to deep brain stimulation. Objective: To perform a pilot assessment on safety and efficacy of prefrontal cortical bilateral electrical stimulation in TS using clinical and brain metabolic assessments. Methods: Four adult TS patients underwent tic assessment using the Yale Global Tic Severity Scale and the Rush Video Rating Scale at baseline and 1, 3, 6, and 12-months after implant; whereas FDG-PET scans were acquired at baseline and after 6 and 12 months. Results: Tic clinical scores were improved at 6 months after implant, meanwhile they showed a tendency to re-emerge at the 12-month follow-up. There was a correlation between FDG-PET and tics, mainly consisting in a reduction of baseline brain hypermetabolism, which paralleled tic score reduction. Conclusion: Epidural stimulation in TS is safe and yields a modulation of tics, paralleled by FDG-PET metabolic modulation.
Language	English
Publishing date	2018-10-03
Publishing country	United States
Document type	Journal Article
ISSN	2330-1619
ISSN (online)	2330-1619
DOI	10.1002/mdc3.12648
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Article ; Online: The diagnostic challenge of primary dystonia: evidence from misdiagnosis.

Lalli, Stefania / Albanese, Alberto

Movement disorders : official journal of the Movement Disorder Society

2010 Volume 25, Issue 11, Page(s) 1619–1626

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 ... ...

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.
MeSH term(s)	Databases, Factual/statistics & numerical data ; Diagnostic Errors ; Dystonic Disorders/diagnosis ; Dystonic Disorders/etiology ; Dystonic Disorders/physiopathology ; Humans
Language	English
Publishing date	2010-08-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	607633-6
ISSN	1531-8257 ; 0885-3185
ISSN (online)	1531-8257
ISSN	0885-3185
DOI	10.1002/mds.23137
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Zs.A 2555: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 238: Show issues

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