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  1. Article ; Online: Case Reports and Movement Disorder Rounds: Learning through observation, building on collective experiences.

    Tan, Ai Huey / Gatto, Emilia M

    Parkinsonism & related disorders

    2023  Volume 110, Page(s) 105396

    MeSH term(s) Humans ; Learning ; Teaching Rounds ; Movement Disorders/therapy
    Language English
    Publishing date 2023-04-05
    Publishing country England
    Document type Case Reports ; Editorial
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2023.105396
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Impulse Control Disorders in Parkinson's Disease. A Brief and Comprehensive Review.

    Gatto, Emilia M / Aldinio, Victoria

    Frontiers in neurology

    2019  Volume 10, Page(s) 351

    Abstract: Impulse control and related disorders (ICDs-RD) encompasses a heterogeneous group of disorders that involve pleasurable behaviors performed repetitively, excessively, and compulsively. The key common symptom in all these disorders is the failure to ... ...

    Abstract Impulse control and related disorders (ICDs-RD) encompasses a heterogeneous group of disorders that involve pleasurable behaviors performed repetitively, excessively, and compulsively. The key common symptom in all these disorders is the failure to resist an impulse or temptation to control an act or specific behavior, which is ultimately harmful to oneself or others and interferes in major areas of life. The major symptoms of ICDs include pathological gambling (PG), hypersexualtiy (HS), compulsive buying/shopping (CB) and binge eating (BE) functioning. ICDs and ICDs-RD have been included in the behavioral spectrum of non-motor symptoms in Parkinson's disease (PD) leading, in some cases, to serious financial, legal and psychosocial devastating consequences. Herein we present the prevalence of ICDs, the risk factors, its pathophysiological mechanisms, the link with agonist dopaminergic therapies and therapeutic managements.
    Language English
    Publishing date 2019-04-17
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2019.00351
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Suicide attempt in a dopamine agonist withdrawal syndrome in Parkinson's disease.

    Espindola, Melisa / Rojas, Natalia González / Vaisentein, Giselle / Da Prat, Gustavo / Cesarini, Martin / Etcheverry, Jose Luis / Gatto, Emilia M

    Parkinsonism & related disorders

    2024  Volume 121, Page(s) 106017

    Abstract: Dopamine agonist withdrawal syndrome (DAWS) results from the reduction or suspension of dopamine agonist medications; it encompasses mainly psychiatric symptoms, including suicidal behaviors. In patients with Parkinson's disease (PD), the impact of DAWS ... ...

    Abstract Dopamine agonist withdrawal syndrome (DAWS) results from the reduction or suspension of dopamine agonist medications; it encompasses mainly psychiatric symptoms, including suicidal behaviors. In patients with Parkinson's disease (PD), the impact of DAWS can be significant in terms of distress and disability; however, we must take this syndrome into account as a threatening condition because suicidal behaviors could be developing in the context of DAWS. Here we present a brief case of DAWS affecting a young man with PD, whom abruptly discontinued DA treatment and developed psychiatric symptoms within two weeks which led to a suicidal attempt.
    MeSH term(s) Male ; Humans ; Dopamine Agonists/adverse effects ; Parkinson Disease/complications ; Parkinson Disease/drug therapy ; Suicide, Attempted ; Dopamine Agents/therapeutic use ; Substance Withdrawal Syndrome/etiology ; Substance Withdrawal Syndrome/diagnosis ; Disruptive, Impulse Control, and Conduct Disorders/complications
    Chemical Substances Dopamine Agonists ; Dopamine Agents
    Language English
    Publishing date 2024-02-12
    Publishing country England
    Document type Letter
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2024.106017
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Why is the Joker Laughing? Clinical Features for the Differential Diagnosis of Pathological Laughter.

    Merchán-Del-Hierro, Xavier / Fernandez-Boccazzi, Julián / Gatto, Emilia M

    Academic psychiatry : the journal of the American Association of Directors of Psychiatric Residency Training and the Association for Academic Psychiatry

    2021  Volume 45, Issue 4, Page(s) 512–516

    MeSH term(s) Diagnosis, Differential ; Humans ; Laughter
    Language English
    Publishing date 2021-04-21
    Publishing country United States
    Document type Editorial
    ZDB-ID 1045331-3
    ISSN 1545-7230 ; 1042-9670
    ISSN (online) 1545-7230
    ISSN 1042-9670
    DOI 10.1007/s40596-021-01453-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Huntington disease: Advances in the understanding of its mechanisms.

    Gatto, Emilia M / Rojas, Natalia González / Persi, Gabriel / Etcheverry, José Luis / Cesarini, Martín Emiliano / Perandones, Claudia

    Clinical parkinsonism & related disorders

    2020  Volume 3, Page(s) 100056

    Abstract: Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4. Despite its well-defined genetic origin, the molecular ... ...

    Abstract Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Also, we present a modern view on the molecular biology of HD as a representative of the group of polyglutamine diseases, with an emphasis on conformational changes of mutant huntingtin, disturbances in its cellular processing, and proteolytic stress in degenerating neurons. The main pathogenetic mechanisms of neurodegeneration in HD are discussed in detail, such as autophagy, impaired mitochondrial biogenesis, lysosomal dysfunction, organelle and protein transport, inflammation, oxidative stress, and transcription factor modulation. However, other unraveling mechanisms are still unknown. This practical and brief review summarizes some of the currently known functions of the wild-type huntingtin protein and the recent findings related to the mechanisms involved in HD pathogenesis.
    Language English
    Publishing date 2020-05-06
    Publishing country England
    Document type Journal Article ; Review
    ISSN 2590-1125
    ISSN (online) 2590-1125
    DOI 10.1016/j.prdoa.2020.100056
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Review of Hereditary and Acquired Rare Choreas.

    Martinez-Ramirez, Daniel / Walker, Ruth H / Rodríguez-Violante, Mayela / Gatto, Emilia M

    Tremor and other hyperkinetic movements (New York, N.Y.)

    2020  Volume 10, Page(s) 24

    Abstract: Background: Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the International Parkinson's and Movement Disorders Society Rare Movement ... ...

    Abstract Background: Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the International Parkinson's and Movement Disorders Society Rare Movement Disorders Study Group provides updates on rare movement disorders.
    Methods: In this narrative review, we discuss the differential diagnosis of the rare disorders that can cause chorea.
    Results: Although the most common causes of chorea are hereditary, it is critical to identify acquired or symptomatic choreas since these are potentially treatable conditions. Disorders of metabolism and mitochondrial cytopathies can also be associated with chorea.
    Discussion: The present review discusses clues to the diagnosis of chorea of various etiologies. Authors propose algorithms to help the clinician in the diagnosis of these rare disorders.
    MeSH term(s) Age of Onset ; Chorea/diagnosis ; Chorea/etiology ; Chorea/genetics ; Humans ; Movement Disorders/diagnosis ; Movement Disorders/etiology ; Movement Disorders/genetics ; Rare Diseases
    Language English
    Publishing date 2020-08-06
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2674453-3
    ISSN 2160-8288 ; 2160-8288
    ISSN (online) 2160-8288
    ISSN 2160-8288
    DOI 10.5334/tohm.548
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genetic Testing for Parkinson's Disease and Movement Disorders in Less Privileged Areas: Barriers and Opportunities.

    Tan, Ai Huey / Cornejo-Olivas, Mario / Okubadejo, Njideka / Pal, Pramod Kumar / Saranza, Gerard / Saffie-Awad, Paula / Ahmad-Annuar, Azlina / Schumacher-Schuh, Artur F / Okeng'o, Kigocha / Mata, Ignacio F / Gatto, Emilia M / Lim, Shen-Yang

    Movement disorders clinical practice

    2023  Volume 11, Issue 1, Page(s) 14–20

    MeSH term(s) Humans ; Parkinson Disease/diagnosis ; Genetic Testing
    Language English
    Publishing date 2023-11-29
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13903
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Discharges With Triphasic Morphology as Marker of the Risk of Death in Acute Encephalopathy.

    Merchán-Del-Hierro, Xavier / Persi, Gabriel / Vulycher, María C / Chicco, Carla / Gatto, Emilia M / Pereira-de-Silva, Nahuel

    Clinical EEG and neuroscience

    2021  Volume 53, Issue 2, Page(s) 148–152

    Abstract: ... ...

    Abstract Introduction
    MeSH term(s) Brain Diseases/diagnosis ; Electroencephalography ; Humans ; Patient Discharge ; Prognosis ; Retrospective Studies
    Language English
    Publishing date 2021-10-05
    Publishing country United States
    Document type Journal Article ; Observational Study
    ZDB-ID 2140201-2
    ISSN 2169-5202 ; 0009-9155 ; 1550-0594
    ISSN (online) 2169-5202
    ISSN 0009-9155 ; 1550-0594
    DOI 10.1177/15500594211046702
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency.

    Gatto, Emilia M / Da Prat, Gustavo / Etcheverry, Jose Luis / Drelichman, Guillermo / Cesarini, Martin

    Brain sciences

    2019  Volume 9, Issue 2

    Abstract: In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson's disease (PD) or frontotemporal dementia. Epidemiological studies helped ... ...

    Abstract In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson's disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD. We conducted a review of this link, highlighting the association in GBA mutation carriers and in Gaucher disease type 1 patients (GD type 1). A comprehensive review of the literature from January 2008 to December 2018 was undertaken. Relevance findings include: (1) There is a bidirectional interaction between GBA and α- synuclein in protein homeostasis regulatory pathways involving the clearance of aggregated proteins. (2) The link between GBA deficiency and PD appears not to be restricted to α⁻synuclein aggregates but also involves Parkin and PINK1 mutations. (3) Other factors help explain this association, including early and later endosomes and the lysosomal-associated membrane protein 2A (LAMP-2A) involved in the chaperone-mediated autophagy (CMA). (4) The best knowledge allows researchers to explore new therapeutic pathways alongside substrate reduction or enzyme replacement therapies.
    Language English
    Publishing date 2019-02-01
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci9020030
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Moaning Phenomenon and Rapidly Progressive Dementia in Anti LGI-1 Associated Progressive Supranuclear Palsy Syndrome.

    Hierro, Xavier Merchán-Del / Rojas, Galeno / Aldinio, Victoria / Bres-Bullrich, María / Da-Prat, Gustavo / Ebner, Roberto / Gatto, Emilia M

    Tremor and other hyperkinetic movements (New York, N.Y.)

    2020  Volume 10, Page(s) 8

    Abstract: Background: Immunological causes of atypical parkinsonisms linked to neuronal specific antibodies have been recently reported. As these are potentially treatable disorders, it is desirable to identify which clinical features may suggest an autoimmune ... ...

    Abstract Background: Immunological causes of atypical parkinsonisms linked to neuronal specific antibodies have been recently reported. As these are potentially treatable disorders, it is desirable to identify which clinical features may suggest an autoimmune etiology.
    Case report: A 60-year-old-man with progressive supranuclear palsy associated with anti-LGI-1 antibodies presented with rapidly progressive dementia and moaning. Treatment with steroids and immunoglobulin resulted in temporary clinical improvement and disease stabilization.
    Discussion: Anti-LGI-1 antibodies interfere with normal synaptic activity and maturation in the central nervous system. We suggest that an immune-mediated mechanism might be considered in atypical parkinsonisms with unusual features such as rapidly progressive dementia.
    Highlights: We present a case of rapidly evolving progressive supranuclear palsy-like parkinsonism associated with anti-LGI-1 antibodies, suggesting that immune-mediated mechanisms might be involved in rapid progression of some atypical parkinsonisms. This case also contributes to the expanding spectrum of moaning-associated disorders.
    MeSH term(s) Autoantibodies/immunology ; Dementia/drug therapy ; Dementia/immunology ; Dementia/physiopathology ; Disease Progression ; Glucocorticoids/therapeutic use ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Immunologic Factors/therapeutic use ; Male ; Methylprednisolone/therapeutic use ; Middle Aged ; Rituximab/therapeutic use ; Supranuclear Palsy, Progressive/drug therapy ; Supranuclear Palsy, Progressive/immunology ; Supranuclear Palsy, Progressive/physiopathology
    Chemical Substances Autoantibodies ; Glucocorticoids ; Immunoglobulins, Intravenous ; Immunologic Factors ; anti-leucine-rich glioma-inactivated 1 autoantibody ; Rituximab (4F4X42SYQ6) ; Methylprednisolone (X4W7ZR7023)
    Language English
    Publishing date 2020-06-16
    Publishing country England
    Document type Case Reports ; Video-Audio Media
    ZDB-ID 2674453-3
    ISSN 2160-8288 ; 2160-8288
    ISSN (online) 2160-8288
    ISSN 2160-8288
    DOI 10.5334/tohm.65
    Database MEDical Literature Analysis and Retrieval System OnLINE

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