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  1. Article ; Online: MRI Abnormalities Identify Neuronal Intranuclear Inclusion Disease.

    De Santis, Tiziana / Politi, Letterio S / Valente, Enza Maria / Albanese, Alberto

    Annals of neurology

    2023  Volume 95, Issue 5, Page(s) 1009–1010

    MeSH term(s) Humans ; Intranuclear Inclusion Bodies/pathology ; Neurodegenerative Diseases/diagnostic imaging ; Neurodegenerative Diseases/pathology ; Magnetic Resonance Imaging/methods ; Brain/diagnostic imaging ; Brain/pathology ; Male ; Middle Aged ; Aged ; Female
    Language English
    Publishing date 2023-12-19
    Publishing country United States
    Document type Journal Article ; Case Reports
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26853
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    Zs.MO 478: Show issues

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  2. Article: Case report: Atypical Parkinsonism following SARS-CoV-2 infection.

    Polverino, Paola / De Santis, Tiziana / Perdixi, Elena / Chiò, Adriano / Albanese, Alberto

    Frontiers in neurology

    2023  Volume 14, Page(s) 1208213

    Abstract: A wide range of neurological manifestations have been reported during the COVID-19 pandemic, including a variety of Parkinsonian cases. The association of numerous viruses with the development of persistent or transient Parkinsonism has been well- ... ...

    Abstract A wide range of neurological manifestations have been reported during the COVID-19 pandemic, including a variety of Parkinsonian cases. The association of numerous viruses with the development of persistent or transient Parkinsonism has been well-documented. We observed a patient who developed a levodopa non-responsive Parkinsonian syndrome with dysautonomia during a prolonged stay at home for COVID-19. Although the temporal proximity of the emerging Parkinsonian features with a COVID-19 diagnosis suggested a causal relationship, we considered the possibility of a coincidental occurrence of multiple system atrophy. We discuss the patient's clinical features in relation to the established clinical diagnostic criteria and review differential diagnoses as well as the role of SARS-CoV-2 infection.
    Language English
    Publishing date 2023-07-31
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2023.1208213
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  3. 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.MO 420: Show issues

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  4. Article ; Online: Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants.

    De Santis, Tiziana / Serpieri, Valentina / Biagini, Tommaso / Lanotte, Michele / Criffò, Carlotta / Mazza, Tommaso / Valente, Enza Maria / Albanese, Alberto

    Movement disorders clinical practice

    2023  Volume 10, Issue 6, Page(s) 1020–1023

    Language English
    Publishing date 2023-04-27
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13749
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  5. Article ; Online: Impulse control behavior in GBA-mutated parkinsonian patients.

    Amami, Paolo / De Santis, Tiziana / Invernizzi, Federica / Garavaglia, Barbara / Albanese, Alberto

    Journal of the neurological sciences

    2020  Volume 421, Page(s) 117291

    Abstract: Objective: To assess the prevalence and phenomenology of Impulse control behavior (ICB) in Parkinson's disease (PD) patients carrying mutations in the β-glucocerebrosidase (GBA) gene.: Background: GBA mutations are a common genetic factor ... ...

    Abstract Objective: To assess the prevalence and phenomenology of Impulse control behavior (ICB) in Parkinson's disease (PD) patients carrying mutations in the β-glucocerebrosidase (GBA) gene.
    Background: GBA mutations are a common genetic factor predisposing to PD. ICB is among the most disabling non-motor complications of PD. The occurrence of ICB in PD patients carrying GBA gene mutations (GBA-PD) has not been yet established.
    Methods: Forty-six patients with clinically definite PD (23 GBA-PD and 23 non-mutated patients, NM-PD) were screened for ICB. Diagnosis was clinically and rating based on a specific questionnaire (QUIP-RS). Other demographic and clinical variables did not differ between groups.
    Results: ICB occurred more frequently in GBA-PD patients (52.2%) compared to NM-PD (13%) and the total QUIP-RS score was higher in the GBA-PD group. Hypersexuality and compulsive shopping were the most prevalent ICB types occurring in GBA patients. ICB occurred only in one GBA-PD patient on levodopa monotherapy and in 11 patients taking dopamine agonists, either monotherapy or combined with levodopa (the corresponding figures in NM-PD patients were 0 and 3). Most GBA-PD patients were heterozygous for two common genetic variants, without appreciable difference in their ICB profile.
    Conclusion: ICB is more common in GBA-PD patients compared to NM-PD. Dopamine agonist therapy may be synergic to GBA carrier status for ICB occurrence.
    MeSH term(s) Dopamine Agonists/therapeutic use ; Glucosylceramidase/genetics ; Heterozygote ; Humans ; Levodopa ; Mutation/genetics ; Parkinson Disease/drug therapy ; Parkinson Disease/epidemiology ; Parkinson Disease/genetics
    Chemical Substances Dopamine Agonists ; Levodopa (46627O600J) ; Glucosylceramidase (EC 3.2.1.45)
    Language English
    Publishing date 2020-12-21
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 80160-4
    ISSN 1878-5883 ; 0022-510X ; 0374-8642
    ISSN (online) 1878-5883
    ISSN 0022-510X ; 0374-8642
    DOI 10.1016/j.jns.2020.117291
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    Zs.A 308: Show issues Location:
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  6. Article ; Online: Plasma Exchange-responsive Tardive Delayed Pseudochoreoathetosis in a Patient with Anti-Hu Neuronopathy.

    De Santis, Tiziana / Morino, Stefania / Antonini, Giovanni / Pontieri, Francesco E

    Movement disorders clinical practice

    2017  Volume 4, Issue 6, Page(s) 887–888

    Language English
    Publishing date 2017-09-28
    Publishing country United States
    Document type Case Reports
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.12524
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  7. Article ; Online: Clinical Reasoning: A case of COVID-19-associated pharyngeal-cervical-brachial variant of Guillain-Barré syndrome.

    Liberatore, Giuseppe / De Santis, Tiziana / Doneddu, Pietro Emiliano / Gentile, Francesco / Albanese, Alberto / Nobile-Orazio, Eduardo

    Neurology

    2020  Volume 95, Issue 21, Page(s) 978–983

    MeSH term(s) Antiviral Agents/therapeutic use ; Bradycardia/physiopathology ; COVID-19/complications ; COVID-19/diagnosis ; COVID-19/therapy ; Deglutition Disorders/physiopathology ; Diagnosis, Differential ; Dysphonia/physiopathology ; Facial Nerve Diseases/physiopathology ; Gastroparesis/physiopathology ; Guillain-Barre Syndrome/diagnosis ; Guillain-Barre Syndrome/etiology ; Guillain-Barre Syndrome/physiopathology ; Humans ; Hypertension/physiopathology ; Hypoglossal Nerve Diseases/physiopathology ; Male ; Middle Aged ; Muscle Weakness/physiopathology ; Neck Muscles/physiopathology ; Polyneuropathies/diagnosis ; Respiration, Artificial ; Respiratory Insufficiency/therapy ; Tachycardia/physiopathology ; Upper Extremity
    Chemical Substances Antiviral Agents
    Keywords covid19
    Language English
    Publishing date 2020-09-11
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000010817
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  8. Article: Clinical Reasoning: A case of COVID-19 associated pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

    Liberatore, Giuseppe / De Santis, Tiziana / Doneddu, Pietro Emiliano / Gentile, Francesco / Albanese, Alberto / Nobile-Orazio, Eduardo

    Neurology

    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #776130
    Database COVID19

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  9. Article ; Online: Clinical Reasoning

    Liberatore, Giuseppe / De Santis, Tiziana / Doneddu, Pietro Emiliano / Gentile, Francesco / Albanese, Alberto / Nobile-Orazio, Eduardo

    Neurology

    A case of COVID-19 associated pharyngeal-cervical-brachial variant of Guillain-Barré syndrome

    2020  , Page(s) 10.1212/WNL.0000000000010817

    Keywords Clinical Neurology ; covid19
    Language English
    Publisher Ovid Technologies (Wolters Kluwer Health)
    Publishing country us
    Document type Article ; Online
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/wnl.0000000000010817
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Does thyroid diseases contribute to the natural history of idiopathic adult-onset dystonia? Data from the Italian Dystonia Registry.

    Idrissi, Sarah / Velucci, Vittorio / Esposito, Marcello / Trinchillo, Assunta / Habestwallner, Francesco / Belvisi, Daniele / Fabbrini, Giovanni / Ferrazzano, Gina / Rizzo, Vincenzo / Terranova, Carmen / Girlanda, Paolo / Pellicciari, Roberta / Avanzino, Laura / Di Biasio, Francesca / Marchese, Roberta / Bono, Francesco / Idone, Giovanni / Laterza, Vincenzo / Lettieri, Christian /
    Rinaldo, Sara / Eleopra, Roberto / Castagna, Anna / Altavista, Maria Concetta / Moschella, Vincenzo / Erro, Roberto / Barone, Paolo / Barbero, Pierangelo / Ceravolo, Roberto / Mazzucchi, Sonia / Mascia, Marcello Mario / Ercoli, Tommaso / Muroni, Antonella / Zibetti, Maurizio / Lopiano, Leonardo / Scaglione, Cesa Lorella Maria / Bentivoglio, Anna Rita / Petracca, Martina / Magistrelli, Luca / Cotelli, Maria Sofia / Cossu, Giovanni / Squintani, Giovanna Maddalena / De Santis, Tiziana / Schirinzi, Tommaso / Misceo, Salvatore / Pisani, Antonio / Berardelli, Alfredo / Defazio, Giovanni

    Journal of neural transmission (Vienna, Austria : 1996)

    2024  Volume 131, Issue 4, Page(s) 369–375

    Abstract: A few earlier observations and recent controlled studies pointed to the possible contribution of thyroid diseases in idiopathic adult-onset dystonia (IAOD). The aim of this study was to investigate the association between thyroid status and clinical ... ...

    Abstract A few earlier observations and recent controlled studies pointed to the possible contribution of thyroid diseases in idiopathic adult-onset dystonia (IAOD). The aim of this study was to investigate the association between thyroid status and clinical characteristics of IAOD, focusing on dystonia localization, spread, and associated features such as tremors and sensory tricks. Patients were identified from those included in the Italian Dystonia Registry, a multicentre dataset of patients with adult-onset dystonia. The study population included 1518 IAOD patients. Patients with hypothyroidism and hyperthyroidism were compared with those without any thyroid disease. In the 1518 IAOD patients, 167 patients (11%; 95% CI 9.5-12.6%) were diagnosed with hypothyroidism and 42 (2.8%; 95% CI 1.99-3.74) with hyperthyroidism. The three groups were comparable in age at dystonia onset, but there were more women than men in the groups with thyroid disease. Analysing the anatomical distribution of dystonia, more patients with blepharospasm were present in the hyperthyroidism group, but the difference did not reach statistical significance after the Bonferroni correction. The remaining dystonia-affected body sites were similarly distributed in the three groups, as did dystonia-associated features and spread. Our findings provided novel information indicating that the high rate of thyroid diseases is not specific for any specific dystonia subpopulation and does not appear to influence the natural history of the disease.
    MeSH term(s) Male ; Adult ; Humans ; Female ; Dystonia/epidemiology ; Risk Factors ; Dystonic Disorders/epidemiology ; Thyroid Diseases ; Hypothyroidism/epidemiology ; Hyperthyroidism/complications ; Hyperthyroidism/epidemiology ; Registries ; Italy/epidemiology
    Language English
    Publishing date 2024-02-20
    Publishing country Austria
    Document type Journal Article
    ZDB-ID 184163-4
    ISSN 1435-1463 ; 0300-9564
    ISSN (online) 1435-1463
    ISSN 0300-9564
    DOI 10.1007/s00702-024-02753-7
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