Results 71 to 80 of about 119,702 (338)
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
An Improved Approach for Prediction of Parkinson's Disease using Machine Learning Techniques [PDF]
arXiv, 2016 Parkinson's disease (PD) is one of the major public health problems in the world. It is a well-known fact that around one million people suffer from Parkinson's disease in the United States whereas the number of people suffering from Parkinson's disease worldwide is around 5 million.
arxiv
Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley +1 more source
Central and peripheral α‐synuclein in Parkinson disease detected by seed amplification assay
Annals of Clinical and Translational Neurology, 2023 Objectives Detection of α‐synuclein aggregates by seed amplification is a promising Parkinson disease biomarker assay. Understanding intraindividual relationships of α‐synuclein measures could inform optimal biomarker development.
Lana M. Chahine +15 more
doaj +1 more source
1D-Convolutional transformer for Parkinson disease diagnosis from gait [PDF]
arXiv, 2023 This paper presents an efficient deep neural network model for diagnosing Parkinson's disease from gait. More specifically, we introduce a hybrid ConvNet-Transformer architecture to accurately diagnose the disease by detecting the severity stage. The proposed architecture exploits the strengths of both Convolutional Neural Networks and Transformers in ...
arxiv
Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi +13 more
wiley +1 more source
PhoneMD: Learning to Diagnose Parkinson's Disease from Smartphone Data [PDF]
arXiv, 2018 Parkinson's disease is a neurodegenerative disease that can affect a person's movement, speech, dexterity, and cognition. Clinicians primarily diagnose Parkinson's disease by performing a clinical assessment of symptoms. However, misdiagnoses are common.
arxiv
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Topological Descriptors for Parkinson's Disease Classification and Regression Analysis [PDF]
arXiv, 2020 At present, the vast majority of human subjects with neurological disease are still diagnosed through in-person assessments and qualitative analysis of patient data. In this paper, we propose to use Topological Data Analysis (TDA) together with machine learning tools to automate the process of Parkinson's disease classification and severity assessment.
arxiv
Enhanced LSTM by Attention Mechanism for Early Detection of Parkinson's Disease through Voice Signals [PDF]
Parkinson's disease (PD) is a neurodegenerative condition characterized by notable motor and non-motor manifestations. The assessment tool known as the Unified Parkinson's Disease Rating Scale (UPDRS) plays a crucial role in evaluating the extent of symptomatology associated with Parkinson's Disease (PD).
arxiv +1 more source