Changes for page Neurodiagnoses
Last modified by manuelmenendez on 2025/03/03 22:46
From version 24.1
edited by manuelmenendez
on 2025/01/29 18:46
on 2025/01/29 18:46
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To version 6.1
edited by manuelmenendez
on 2025/01/27 23:21
on 2025/01/27 23:21
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... ... @@ -2,9 +2,10 @@ 2 2 ((( 3 3 (% class="container" %) 4 4 ((( 5 -= //A new tridimensional diagnostic framework for CNS diseases// = 5 += **Neurodiagnoses** 6 +//A new tridimensional diagnostic framework for CNS conditions// = 6 6 7 -This project is focused on developing a novel nosological and diagnostic framework for CNSdiseases by using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies.8 +This project is focused on developing a novel nosological and diagnostic framework for neurological diseases by using advanced AI techniques and integrating data from neuroimaging, biomarkers, and biomedical ontologies. 8 8 We aim to create a structured, interpretable, and scalable diagnostic tool. 9 9 ))) 10 10 ))) ... ... @@ -15,18 +15,14 @@ 15 15 ((( 16 16 = What is this about and what can I find here? = 17 17 18 -== **Overview** == 19 +==== **Overview** ==== 19 19 20 -The //Tridimensional Diagnostic Framework// redefines CNSdiseasescanbe classifiedand diagnosedby focusing on:21 +The //Tridimensional Diagnostic Framework// redefines how neurodegenerative diseases (NDDs) are classified by focusing on: 21 21 22 -* **Axis 1**: Etiology (genetic othercausesofdiseases).23 -* **Axis 2**: Molecular Markers (biomarkers). 23 +* **Axis 1**: Etiology (genetic/sporadic and environmental factors). 24 +* **Axis 2**: Molecular Markers (biomarkers and proteinopathies). 24 24 * **Axis 3**: Neuroanatomoclinical correlations (linking clinical symptoms to structural changes in the nervous system). 25 25 26 - 27 -[[For instance, neurodegenerative diseases can be studied and classified in a tridimensional scheme with three axes: anatomic–clinical, molecular, and etiologic. CSF, cerebrospinal fluid; FDG, fluorodeoxyglucose; MRI, magnetic resonance imaging; PET, positron emission tomography.>>image:tridimensional.png||alt="tridimensional view of neurodegenerative diseases"]] 28 - 29 - 30 30 This methodology enables: 31 31 32 32 * Greater precision in diagnosis. ... ... @@ -33,16 +33,14 @@ 33 33 * Integration of incomplete datasets using AI-driven probabilistic modeling. 34 34 * Stratification of patients for personalized treatment. 35 35 36 -== ** The case of neurodegenerativediseases** ==33 +==== **Diagnostic Axes** ==== 37 37 38 -There have been described these 3 diagnostic axes: 39 - 40 40 * ((( 41 41 **Axis 1: Etiology** 42 42 43 43 * //Description//: Focuses on genetic and sporadic causes, identifying risk factors and potential triggers. 44 44 * //Examples//: APOE ε4 as a genetic risk factor, or cardiovascular health affecting NDD progression. 45 -* //Tests//: Genetic testing, lifestyle ,and cardiovascular screening.40 +* //Tests//: Genetic testing, lifestyle and cardiovascular screening. 46 46 ))) 47 47 * ((( 48 48 **Axis 2: Molecular Markers** ... ... @@ -59,11 +59,28 @@ 59 59 * //Tests//: MRI volumetrics, FDG-PET, neuropsychological evaluations. 60 60 ))) 61 61 62 -== ** Applications** ==57 +==== **Case Studies** ==== 63 63 59 +1. ((( 60 +**Sporadic Alzheimer’s Disease**: 61 + 62 +* Axis 1: Sporadic (ApoE4, poor sleep habits). 63 +* Axis 2: Amyloid-beta plaques, elevated NFL. 64 +* Axis 3: Right hippocampus atrophy (visual memory loss). 65 +))) 66 +1. ((( 67 +**Genetic Parkinson’s Disease**: 68 + 69 +* Axis 1: Genetic (LRRK2 mutation). 70 +* Axis 2: Alpha-synuclein aggregation. 71 +* Axis 3: Substantia nigra degeneration (motor dysfunction). 72 +))) 73 + 74 +==== **Applications** ==== 75 + 64 64 This system enhances: 65 65 66 -* **Research**: By stratifying patients, reduces cohort heterogeneity in clinical trials. 78 +* **Research**: By stratifying patients, it reduces cohort heterogeneity in clinical trials. 67 67 * **Clinical Practice**: Provides dynamic diagnostic annotations with timestamps for longitudinal tracking. 68 68 69 69 == Who has access? == ... ... @@ -70,13 +70,13 @@ 70 70 71 71 We welcome contributions from the global community. Let’s build the future of neurological diagnostics together! 72 72 73 -== How to Contribute == 85 +== How to Contribute: == 74 74 75 75 * Access the `/docs` folder for guidelines. 76 76 * Use `/code` for the latest AI pipelines. 77 77 * Share feedback and ideas in the wiki discussion pages. 78 78 79 -== Key Objectives == 91 +== Key Objectives: == 80 80 81 81 * Develop interpretable AI models for diagnosis and progression tracking. 82 82 * Integrate data from Human Phenotype Ontology (HPO), Gene Ontology (GO), and other biomedical resources. ... ... @@ -90,14 +90,11 @@ 90 90 {{toc/}} 91 91 {{/box}} 92 92 93 -== Main contents == 105 +== Main contents: == 94 94 95 95 * `/docs`: Documentation and contribution guidelines. 96 96 * `/code`: Machine learning pipelines and scripts. 97 97 * `/data`: Sample datasets for testing. 98 98 * `/outputs`: Generated models, visualizations, and reports. 99 -* [[Methodology>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Methodology/]] 100 -* [[Results>>url:https://wiki.ebrains.eu/bin/view/Collabs/neurodiagnoses/Results/]] 101 -* [[to-do-list>>to-do-list]] 102 102 ))) 103 103 )))
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