ORCID Profile
0000-0002-2171-1720
Current Organisations
Universidad Peruana Cayetano Heredia
,
Universidad Científica del Sur Facultad de Ciencias de la Salud
,
Instituto Nacional De Ciencias Neurológicas
,
Fundación San Marcos
,
Fondazione IRCCS Istituto Neurologico Carlo Besta
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Publications
Diagnosis and management of dementia with Lewy bodies
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 07-06-2017
DOI: 10.1212/WNL.0000000000004058
Abstract: The Dementia with Lewy Bodies (DLB) Consortium has refined its recommendations about the clinical and pathologic diagnosis of DLB, updating the previous report, which has been in widespread use for the last decade. The revised DLB consensus criteria now distinguish clearly between clinical features and diagnostic biomarkers, and give guidance about optimal methods to establish and interpret these. Substantial new information has been incorporated about previously reported aspects of DLB, with increased diagnostic weighting given to REM sleep behavior disorder and 123 iodine-metaiodobenzylguanidine (MIBG) myocardial scintigraphy. The diagnostic role of other neuroimaging, electrophysiologic, and laboratory investigations is also described. Minor modifications to pathologic methods and criteria are recommended to take account of Alzheimer disease neuropathologic change, to add previously omitted Lewy-related pathology categories, and to include assessments for substantia nigra neuronal loss. Recommendations about clinical management are largely based upon expert opinion since randomized controlled trials in DLB are few. Substantial progress has been made since the previous report in the detection and recognition of DLB as a common and important clinical disorder. During that period it has been incorporated into DSM-5, as major neurocognitive disorder with Lewy bodies. There remains a pressing need to understand the underlying neurobiology and pathophysiology of DLB, to develop and deliver clinical trials with both symptomatic and disease-modifying agents, and to help patients and carers worldwide to inform themselves about the disease, its prognosis, best available treatments, ongoing research, and how to get adequate support.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Publisher: Wiley
Date: 24-01-2023
DOI: 10.1002/MDS.29288
Abstract: As gene‐targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial‐ready cohorts is limited. The objectives are to (1) establish an international cohort of affected and unaffected in iduals with PD‐linked variants (2) provide harmonized and quality‐controlled clinical characterization data for each included in idual and (3) further promote collaboration of researchers in the field of monogenic PD. We conducted a worldwide, systematic online survey to collect in idual‐level data on in iduals with PD‐linked variants in SNCA , LRRK2 , VPS35 , PRKN , PINK1 , DJ‐1 , as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. We collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included in iduals, 3185 had a diagnosis of PD (ie, 1306 LRRK2 , 115 SNCA , 23 VPS35 , 429 PRKN , 75 PINK1 , 13 DJ‐1 , and 1224 GBA ) and 703 were unaffected (ie, 328 LRRK2 , 32 SNCA , 3 VPS35 , 1 PRKN , 1 PINK1 , and 338 GBA ). In total, we identified 269 different pathogenic variants 1322 in iduals in our cohort (34%) were indicated as not previously published. Within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected in iduals carrying PD‐linked variants (2) provide harmonized and quality‐controlled clinical and genetic data for each included in idual (3) promote collaboration in the field of genetic PD with a view toward clinical and genetic stratification of patients for gene‐targeted clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Defining the causes of sporadic Parkinson’s disease in the global Parkinson’s genetics program (GP2)
Publisher: Springer Science and Business Media LLC
Date: 12-09-2023
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference.
Publisher: Springer Science and Business Media LLC
Date: 15-10-2018
DOI: 10.1038/S41467-018-05892-0
Abstract: The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique—Subtype and Stage Inference (SuStaIn)—able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-sectional patient studies. Results from imaging studies in two neurodegenerative diseases reveal subgroups and their distinct trajectories of regional neurodegeneration. In genetic frontotemporal dementia, SuStaIn identifies genotypes from imaging alone, validating its ability to identify subtypes further the technique reveals within-genotype heterogeneity. In Alzheimer’s disease, SuStaIn uncovers three subtypes, uniquely characterising their temporal complexity. SuStaIn provides fine-grained patient stratification, which substantially enhances the ability to predict conversion between diagnostic categories over standard models that ignore subtype ( p = 7.18 × 10 −4 ) or temporal stage ( p = 3.96 × 10 −5 ). SuStaIn offers new promise for enabling disease subtype discovery and precision medicine.
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project
Publisher: Public Library of Science (PLoS)
Date: 03-10-2023
The need for harmonisation and innovation of neuropsychological assessment in neurodegenerative dementias in Europe: Consensus document of the Joint Program for Neurodegenerative Diseases Working Group
Publisher: Springer Science and Business Media LLC
Date: 17-04-2017
Related Organisations
Universidad Científica Del Sur Facultad De Ciencias De La Salud
Location: Peru
Related Funding Activities
No related grants have been discovered for Pietro Tiraboschi.