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  1. Article ; Online: Advances in the treatment and management of frontotemporal dementia.

    Benussi, Alberto / Borroni, Barbara

    Expert review of neurotherapeutics

    2023  Volume 23, Issue 7, Page(s) 621–639

    Abstract: Introduction: Frontotemporal dementia (FTD) is a complex neurodegenerative disorder, characterized by a wide range of pathological conditions associated with the buildup of proteins such as tau and TDP-43. With a strong hereditary component, FTD often ... ...

    Abstract Introduction: Frontotemporal dementia (FTD) is a complex neurodegenerative disorder, characterized by a wide range of pathological conditions associated with the buildup of proteins such as tau and TDP-43. With a strong hereditary component, FTD often results from genetic variants in three genes -
    Areas covered: In this review, the authors explore abnormal protein accumulation in FTD and forthcoming treatments, providing a detailed analysis of new diagnostic advancements, including innovative markers. They analyze how these discoveries have influenced therapeutic strategies, particularly disease-modifying treatments, which could potentially transform FTD management. This comprehensive exploration of FTD from its molecular underpinnings to its therapeutic prospects offers a compelling overview of the current state of FTD research.
    Expert opinion: Notable challenges in FTD management involve identifying reliable biomarkers for early diagnosis and response monitoring. Genetic forms of FTD, particularly those linked to
    MeSH term(s) Humans ; Frontotemporal Dementia/diagnosis ; Frontotemporal Dementia/genetics ; Frontotemporal Dementia/therapy ; C9orf72 Protein/genetics ; Mutation ; tau Proteins ; Biomarkers ; Psychotherapy
    Chemical Substances C9orf72 Protein ; tau Proteins ; Biomarkers
    Language English
    Publishing date 2023-06-26
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2112534-X
    ISSN 1744-8360 ; 1473-7175
    ISSN (online) 1744-8360
    ISSN 1473-7175
    DOI 10.1080/14737175.2023.2228491
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Cerebellar Stimulation: Lighting the Way.

    Benussi, Alberto / Manto, Mario

    Cerebellum (London, England)

    2023  Volume 23, Issue 1, Page(s) 54–55

    MeSH term(s) Cerebellum ; Photic Stimulation
    Language English
    Publishing date 2023-01-17
    Publishing country United States
    Document type Editorial
    ZDB-ID 2112586-7
    ISSN 1473-4230 ; 1473-4222
    ISSN (online) 1473-4230
    ISSN 1473-4222
    DOI 10.1007/s12311-023-01517-5
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  3. Article ; Online: Transcranial Magnetic Stimulation Across the Lifespan: Impact of Developmental and Degenerative Processes.

    Oberman, Lindsay M / Benussi, Alberto

    Biological psychiatry

    2023  Volume 95, Issue 6, Page(s) 581–591

    Abstract: Transcranial magnetic stimulation (TMS) has emerged as a pivotal noninvasive technique for investigating cortical excitability and plasticity across the lifespan, offering valuable insights into neurodevelopmental and neurodegenerative processes. In this ...

    Abstract Transcranial magnetic stimulation (TMS) has emerged as a pivotal noninvasive technique for investigating cortical excitability and plasticity across the lifespan, offering valuable insights into neurodevelopmental and neurodegenerative processes. In this review, we explore the impact of TMS applications on our understanding of normal development, healthy aging, neurodevelopmental disorders, and adult-onset neurodegenerative diseases. By presenting key developmental milestones and age-related changes in TMS measures, we provide a foundation for understanding the maturation of neurotransmitter systems and the trajectory of cognitive functions throughout the lifespan. Building on this foundation, the paper delves into the pathophysiology of neurodevelopmental disorders, including autism spectrum disorder, attention-deficit/hyperactivity disorder, Tourette syndrome, and adolescent depression. Highlighting recent findings on altered neurotransmitter circuits and dysfunctional cortical plasticity, we underscore the potential of TMS as a valuable tool for unraveling underlying mechanisms and informing future therapeutic interventions. We also review the emerging role of TMS in investigating and treating the most common adult-onset neurodegenerative disorders and late-onset depression. By outlining the therapeutic applications of noninvasive brain stimulation techniques in these disorders, we discuss the growing body of evidence supporting their use as therapeutic tools for symptom management and potentially slowing disease progression. The insights gained from TMS studies have advanced our understanding of the underlying mechanisms in both healthy and disease states, ultimately informing the development of more targeted diagnostic and therapeutic strategies for a wide range of neuropsychiatric conditions.
    MeSH term(s) Adolescent ; Humans ; Transcranial Magnetic Stimulation/methods ; Longevity ; Autism Spectrum Disorder/therapy ; Neurodegenerative Diseases/therapy ; Neurotransmitter Agents
    Chemical Substances Neurotransmitter Agents
    Language English
    Publishing date 2023-07-29
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 209434-4
    ISSN 1873-2402 ; 0006-3223
    ISSN (online) 1873-2402
    ISSN 0006-3223
    DOI 10.1016/j.biopsych.2023.07.012
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  4. Article: Editorial: Recording and modulating neural activity in neurodegenerative diseases: Pathophysiological and therapeutic implications.

    Guerra, Andrea / Tinkhauser, Gerd / Benussi, Alberto / Bocci, Tommaso

    Frontiers in human neuroscience

    2023  Volume 17, Page(s) 1138382

    Language English
    Publishing date 2023-01-24
    Publishing country Switzerland
    Document type Editorial
    ZDB-ID 2425477-0
    ISSN 1662-5161
    ISSN 1662-5161
    DOI 10.3389/fnhum.2023.1138382
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  5. Article ; Online: Recent advances in understanding frontotemporal degeneration.

    Borroni, Barbara / Benussi, Alberto

    F1000Research

    2019  Volume 8

    Abstract: Frontotemporal degeneration (FTD) is a heterogeneous spectrum of neurodegenerative disorders characterized by diverse clinical presentations, neuropathological characteristics, and underlying genetic causes. In the last few years, several advances in the ...

    Abstract Frontotemporal degeneration (FTD) is a heterogeneous spectrum of neurodegenerative disorders characterized by diverse clinical presentations, neuropathological characteristics, and underlying genetic causes. In the last few years, several advances in the knowledge of clinical and biological aspects have been accomplished and three major scenarios have emerged that will represent the core issues in the FTD scene over the next few years. Foremost, the development of cerebrospinal fluid and blood biomarkers as well as neuroimaging techniques will aid the pursuit of new diagnostic and prognostic markers able to identify the ongoing proteinopathy and predict disease progression, which is key in identifying and stratifying patients for enrolment in clinical trials as well as evaluating response to treatment. On the other hand, current research has focused on the first attempts to slow down or revert disease progression, with the identification of disease modulators associated with disease onset and the ongoing development of the first pharmacological treatments for both sporadic and genetic FTD. Future research will certainly improve our knowledge of FTD and possibly open up a new era of disease-modifying therapies for this still-orphan disorder.
    MeSH term(s) Atrophy ; Biomarkers ; Humans ; Neurodegenerative Diseases ; Neuroimaging
    Chemical Substances Biomarkers
    Language English
    Publishing date 2019-12-13
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2699932-8
    ISSN 2046-1402 ; 2046-1402
    ISSN (online) 2046-1402
    ISSN 2046-1402
    DOI 10.12688/f1000research.20330.1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Author response: Cerebello-spinal tDCS in ataxia: A randomized, double-blind, sham-controlled, crossover trial.

    Benussi, Alberto / Borroni, Barbara

    Neurology

    2019  Volume 92, Issue 23, Page(s) 1122

    MeSH term(s) Ataxia ; Cerebellar Ataxia ; Cross-Over Studies ; Double-Blind Method ; Humans ; Transcranial Direct Current Stimulation
    Language English
    Publishing date 2019-06-03
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000007625
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  7. Article ; Online: The Therapeutic Potential of Non-Invasive and Invasive Cerebellar Stimulation Techniques in Hereditary Ataxias.

    Benussi, Alberto / Batsikadze, Giorgi / França, Carina / Cury, Rubens G / Maas, Roderick P P W M

    Cells

    2023  Volume 12, Issue 8

    Abstract: The degenerative ataxias comprise a heterogeneous group of inherited and acquired disorders that are characterized by a progressive cerebellar syndrome, frequently in combination with one or more extracerebellar signs. Specific disease-modifying ... ...

    Abstract The degenerative ataxias comprise a heterogeneous group of inherited and acquired disorders that are characterized by a progressive cerebellar syndrome, frequently in combination with one or more extracerebellar signs. Specific disease-modifying interventions are currently not available for many of these rare conditions, which underscores the necessity of finding effective symptomatic therapies. During the past five to ten years, an increasing number of randomized controlled trials have been conducted examining the potential of different non-invasive brain stimulation techniques to induce symptomatic improvement. In addition, a few smaller studies have explored deep brain stimulation (DBS) of the dentate nucleus as an invasive means to directly modulate cerebellar output, thereby aiming to alleviate ataxia severity. In this paper, we comprehensively review the clinical and neurophysiological effects of transcranial direct current stimulation (tDCS), repetitive transcranial magnetic stimulation (rTMS), and dentate nucleus DBS in patients with hereditary ataxias, as well as the presumed underlying mechanisms at the cellular and network level and perspectives for future research.
    MeSH term(s) Humans ; Transcranial Direct Current Stimulation/methods ; Cerebellum/physiology ; Transcranial Magnetic Stimulation/methods ; Cerebellar Ataxia/therapy ; Ataxia/therapy ; Spinocerebellar Degenerations
    Language English
    Publishing date 2023-04-20
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2661518-6
    ISSN 2073-4409 ; 2073-4409
    ISSN (online) 2073-4409
    ISSN 2073-4409
    DOI 10.3390/cells12081193
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  8. Article ; Online: Non-Invasive Cerebellar Stimulation in Neurodegenerative Ataxia: A Literature Review.

    Benussi, Alberto / Pascual-Leone, Alvaro / Borroni, Barbara

    International journal of molecular sciences

    2020  Volume 21, Issue 6

    Abstract: Cerebellar ataxias are a heterogenous group of degenerative disorders for which we currently lack effective and disease-modifying interventions. The field of non-invasive brain stimulation has made much progress in the development of specific stimulation ...

    Abstract Cerebellar ataxias are a heterogenous group of degenerative disorders for which we currently lack effective and disease-modifying interventions. The field of non-invasive brain stimulation has made much progress in the development of specific stimulation protocols to modulate cerebellar excitability and try to restore the physiological activity of the cerebellum in patients with ataxia. In light of limited evidence-based pharmacologic and non-pharmacologic treatment options for patients with ataxia, several different non-invasive brain stimulation protocols have emerged, particularly employing repetitive transcranial magnetic stimulation (rTMS) or transcranial direct current stimulation (tDCS) techniques. In this review, we summarize the most relevant rTMS and tDCS therapeutic trials and discuss their implications in the care of patients with degenerative ataxias.
    MeSH term(s) Cerebellar Ataxia/physiopathology ; Cerebellum/physiopathology ; Humans ; Transcranial Direct Current Stimulation/methods ; Transcranial Magnetic Stimulation/methods
    Language English
    Publishing date 2020-03-12
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms21061948
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  9. Article: Experimental Disease-Modifying Agents for Frontotemporal Lobar Degeneration.

    Giunta, Marcello / Solje, Eino / Gardoni, Fabrizio / Borroni, Barbara / Benussi, Alberto

    Journal of experimental pharmacology

    2021  Volume 13, Page(s) 359–376

    Abstract: Frontotemporal dementia is a clinically, genetically and pathologically heterogeneous neurodegenerative disorder, enclosing a wide range of different pathological entities, associated with the accumulation of proteins such as tau and TPD-43. ... ...

    Abstract Frontotemporal dementia is a clinically, genetically and pathologically heterogeneous neurodegenerative disorder, enclosing a wide range of different pathological entities, associated with the accumulation of proteins such as tau and TPD-43. Characterized by a high hereditability, mutations in three main genes,
    Language English
    Publishing date 2021-03-24
    Publishing country New Zealand
    Document type Journal Article ; Review
    ZDB-ID 2587465-2
    ISSN 1179-1454
    ISSN 1179-1454
    DOI 10.2147/JEP.S262352
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  10. Article ; Online: Neurophysiological Correlates of Motor and Cognitive Dysfunction in Prodromal and Overt Dementia with Lewy Bodies.

    Benussi, Alberto / Pilotto, Andrea / Cantoni, Valentina / Ferrari, Elisabetta / Borroni, Barbara / Padovani, Alessandro

    Journal of Alzheimer's disease : JAD

    2022  Volume 86, Issue 2, Page(s) 579–588

    Abstract: Background: The neurophysiological correlates of cognitive and motor symptoms in prodromal and overt dementia with Lewy bodies (DLB) are still to be elucidated.: Objective: To evaluate if cognitive and motor features of patients with prodromal and ... ...

    Abstract Background: The neurophysiological correlates of cognitive and motor symptoms in prodromal and overt dementia with Lewy bodies (DLB) are still to be elucidated.
    Objective: To evaluate if cognitive and motor features of patients with prodromal and overt DLB are associated with the impairment of specific neurotransmitter circuits, evaluated in vivo with transcranial magnetic stimulation (TMS).
    Methods: Fifty-one patients with DLB (twenty-five prodromal; twenty-six with dementia) underwent neuropsychological and clinical evaluation, with twenty-five patients having at least one follow-up evaluation. All patients were assessed with TMS at baseline, with protocols assessing cholinergic circuits (short latency afferent inhibition, SAI), GABAergic circuits (short interval intracortical inhibition, SICI), and glutamatergic circuits (intracortical facilitation, ICF).
    Results: Compared to HC, SICI, ICF, and SAI resulted significantly impaired in both prodromal and overt DLB, with the latter showing a reduced SICI and SAI also compared to prodromal DLB. There was a significant correlation between motor deficits, evaluated with the UPDRS-III, and the impairment of GABAergic (SICI) (r = 0.729, p < 0.001) and glutamatergic (ICF) (r -0.608, p < 0.001) circuits; global cognition, evaluated with the Mini-Mental State Examination, correlated with the impairment of cholinergic (SAI) circuits (r=-0.738, p < 0.001). Worsening of cognitive functions at follow-up was associated with reduced cholinergic functions at baseline (R2 = 0.53, p < 0.001).
    Conclusion: These results suggest that motor and cognitive dysfunctions in prodromal and overt DLB depend on specific and independent neurotransmitter circuits.
    MeSH term(s) Cholinergic Agents ; Cognitive Dysfunction ; Evoked Potentials, Motor/physiology ; Humans ; Lewy Body Disease/psychology ; Neural Inhibition/physiology ; Neurophysiology ; Transcranial Magnetic Stimulation/methods
    Chemical Substances Cholinergic Agents
    Language English
    Publishing date 2022-01-30
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1440127-7
    ISSN 1875-8908 ; 1387-2877
    ISSN (online) 1875-8908
    ISSN 1387-2877
    DOI 10.3233/JAD-215531
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