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  1. Article ; Online: The p.Val234Met LRP10 likely pathogenic variant associated with Parkinson's disease: Possible molecular implications.

    Pilotto, Andrea / Carini, Mattia / Lupini, Alessandro / di Fonzo, Alessio / Monti, Eugenio / Bresciani, Roberto / Padovani, Alessandro / Biasiotto, Giorgio

    Parkinsonism & related disorders

    2024  Volume 123, Page(s) 106973

    Language English
    Publishing date 2024-04-17
    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.2024.106973
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    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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  2. Article ; Online: Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.

    Imarisio, Alberto / Pilotto, Andrea / Lupini, Alessandro / Biasiotto, Giorgio / Zanella, Isabella / Currò, Riccardo / Vegezzi, Elisa / Cortese, Andrea / Palmieri, Ilaria / Valente, Enza Maria / Padovani, Alessandro

    Parkinsonism & related disorders

    2024  Volume 123, Page(s) 106943

    Abstract: We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare ... ...

    Abstract We describe here a 73-year-old patient presenting with atypical MSA-P-like phenotype carrying a monoallelic p. W279X mutation in the APTX gene, which causes ataxia with oculomotor apraxia type 1 (AOA1) when in homozygous state. We hypothesize that rare monoallelic APTX variants could modulate MSA risk and phenotype.
    Language English
    Publishing date 2024-03-20
    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.2024.106943
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    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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  3. Article: Occipital atrophy signature in prodromal Lewy bodies disease.

    Galli, Alice / Pilotto, Andrea / Chiarini, Benedetta / Giunta, Marcello / Corbo, Daniele / Tirloni, Clara / Ferreira, Daniel / Premi, Enrico / Lupini, Alessandro / Zatti, Cinzia / Bonanni, Laura / Tiraboschi, Pietro / Gasparotti, Roberto / Padovani, Alessandro

    Alzheimer's & dementia (Amsterdam, Netherlands)

    2023  Volume 15, Issue 4, Page(s) e12462

    Abstract: Introduction: Dementia with Lewy bodies (DLB) is typically characterized by parietal, temporal, and occipital atrophy, but less is known about the newly defined prodromal phases. The objective of this study was to evaluate structural brain alterations ... ...

    Abstract Introduction: Dementia with Lewy bodies (DLB) is typically characterized by parietal, temporal, and occipital atrophy, but less is known about the newly defined prodromal phases. The objective of this study was to evaluate structural brain alterations in prodromal DLB (p-DLB) as compared to healthy controls (HC) and full-blown dementia (DLB-DEM).
    Methods: The study included 42 DLB patients (
    Results: p-DLB and DLB-DEM exhibited reduced occipital and posterior parieto-temporal volume and thickness, extending from prodromal to dementia stages. Occipital atrophy was more sensitive than insular atrophy in differentiating p-DLB and HC. Occipital atrophy correlated to frontotemporal structural damage increasing from p-DLB to DLB-DEM.
    Discussion: Occipital and posterior-temporal structural alterations are an early signature of the DLB continuum and correlate with a long-distance pattern of atrophy.
    Language English
    Publishing date 2023-11-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2832898-X
    ISSN 2352-8729
    ISSN 2352-8729
    DOI 10.1002/dad2.12462
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Atypical brain FDG-PET patterns increase the risk of long-term cognitive and motor progression in Parkinson's disease.

    Imarisio, Alberto / Pilotto, Andrea / Premi, Enrico / Caminiti, Silvia Paola / Presotto, Luca / Sala, Arianna / Zatti, Cinzia / Lupini, Alessandro / Turrone, Rosanna / Paghera, Barbara / Borroni, Barbara / Perani, Daniela / Padovani, Alessandro

    Parkinsonism & related disorders

    2023  Volume 115, Page(s) 105848

    Abstract: Introduction: Brain hypometabolism patterns have been previously associated with cognitive decline in Parkinson's disease (PD). Our aim is to evaluate the impact of single-subject fluorodeoxyglucose (FDG)-PET brain hypometabolism on long-term cognitive ... ...

    Abstract Introduction: Brain hypometabolism patterns have been previously associated with cognitive decline in Parkinson's disease (PD). Our aim is to evaluate the impact of single-subject fluorodeoxyglucose (FDG)-PET brain hypometabolism on long-term cognitive and motor outcomes in PD.
    Methods: Forty-nine non-demented PD patients with baseline brain FDG-PET data underwent an extensive clinical follow-up for 8 years. The ability of FDG-PET to predict long-term cognitive and motor progression was evaluated using Cox regression and mixed ANCOVA models.
    Results: Participants were classified according to FDG-PET pattern in PD with typical (n = 26) and atypical cortical metabolism (n = 23). Patients with atypical brain hypometabolic patterns showed higher incidence of dementia (60% vs 3%; HR = 18.3), hallucinations (56% vs 7%, HR = 7.3) and faster motor decline compared to typical pattern group.
    Conclusion: This study argues for specific patterns of FDG-PET cortical hypometabolism in PD as a prognostic marker for long term cognitive and motor outcomes at single-subject level.
    Language English
    Publishing date 2023-09-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2023.105848
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4553: Show issues Location:
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    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 420: Show issues

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  5. Article ; Online: Association of Orthostatic Hypotension With Cerebral Atrophy in Patients With Lewy Body Disorders.

    Pilotto, Andrea / Romagnolo, Alberto / Scalvini, Andrea / Masellis, Mario / Shimo, Yasushi / Bonanni, Laura / Camicioli, Richard / Wang, Lily L / Dwivedi, Alok K / Longardner, Katherine / Rodriguez-Porcel, Federico / DiFrancesco, Mark / Vizcarra, Joaquin A / Montanaro, Elisa / Maule, Simona / Lupini, Alessandro / Ojeda-López, Carmen / Black, Sandra E / Delli Pizzi, Stefano /
    Gee, Myrlene / Tanaka, Ryota / Yamashiro, Kazuo / Hatano, Taku / Borroni, Barbara / Gasparotti, Roberto / Rizzetti, Maria C / Hattori, Nobutaka / Lopiano, Leonardo / Litvan, Irene / Espay, Alberto J / Padovani, Alessandro / Merola, Aristide

    Neurology

    2021  Volume 97, Issue 8, Page(s) e814–e824

    Abstract: Objective: To evaluate whether orthostatic hypotension (OH) or supine hypertension (SH) is associated with brain atrophy and white matter hyperintensities (WMH), we analyzed clinical and radiologic data from a large multicenter consortium of patients ... ...

    Abstract Objective: To evaluate whether orthostatic hypotension (OH) or supine hypertension (SH) is associated with brain atrophy and white matter hyperintensities (WMH), we analyzed clinical and radiologic data from a large multicenter consortium of patients with Parkinson disease (PD) and dementia with Lewy bodies (DLB).
    Methods: Supine and orthostatic blood pressure (BP) and structural MRI data were extracted from patients with PD and DLB evaluated at 8 tertiary-referral centers in the United States, Canada, Italy, and Japan. OH was defined as a systolic/diastolic BP fall ≥20/10 mm Hg within 3 minutes of standing from the supine position (severe ≥30/15 mm Hg) and SH as a BP ≥140/90 mm Hg with normal sitting BP. Diagnosis-, age-, sex-, and disease duration-adjusted differences in global and regional cerebral atrophy and WMH were appraised with validated semiquantitative rating scales.
    Results: A total of 384 patients (310 with PD, 74 with DLB) met eligibility criteria, of whom 44.3% (n = 170) had OH, including 24.7% (n = 42) with severe OH and 41.7% (n = 71) with SH. OH was associated with global brain atrophy (
    Conclusions: OH, but not SH, was associated with cerebral atrophy in Lewy body disorders, with prominent temporal region involvement. Neither OH nor SH was associated with WMH.
    MeSH term(s) Aged ; Aged, 80 and over ; Atrophy/pathology ; Female ; Humans ; Hypotension, Orthostatic/etiology ; Hypotension, Orthostatic/physiopathology ; Lewy Body Disease/complications ; Lewy Body Disease/diagnostic imaging ; Lewy Body Disease/pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Parkinson Disease/complications ; Parkinson Disease/diagnostic imaging ; Parkinson Disease/pathology ; Severity of Illness Index ; Temporal Lobe/diagnostic imaging ; Temporal Lobe/pathology ; White Matter/diagnostic imaging ; White Matter/pathology
    Language English
    Publishing date 2021-06-07
    Publishing country United States
    Document type Journal Article ; Multicenter Study
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000012342
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.MG 18: Show issues
    Zs.MO 374: Show issues

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