Results 61 to 70 of about 196,808 (340)
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi+8 more
wiley +1 more source
Background: Motor symptoms of Parkinson's disease (PD) are apparent after a high proportion of dopamine neurons in the substantia nigra have degenerated.
Amanda R. Burmeister+10 more
doaj
A two-stage meta-analysis identifies several new loci for Parkinson's disease. [PDF]
A previous genome-wide association (GWA) meta-analysis of 12,386 PD cases and 21,026 controls conducted by the International Parkinson's Disease Genomics Consortium (IPDGC) discovered or confirmed 11 Parkinson's disease (PD) loci.
International Parkinson's Disease Genomics Consortium (IPDGC)+1 more
doaj +1 more source
Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe+15 more
wiley +1 more source
End-to-End Parkinson Disease Diagnosis using Brain MR-Images by 3D-CNN [PDF]
In this work, we use a deep learning framework for simultaneous classification and regression of Parkinson disease diagnosis based on MR-Images and personal information (i.e. age, gender). We intend to facilitate and increase the confidence in Parkinson disease diagnosis through our deep learning framework.
arxiv
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
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
Background: Patients with Parkinson's disease and related disorders (PDRD) may exhibit dropped head syndrome (DHS), which does not yet have an effective treatment.
Yohei Mukai+8 more
doaj
The neurorestorative effects of exogenous neurturin (NTN) delivered directly into the putamen via multiport catheters were studied in 10 MPTP-lesioned rhesus monkeys expressing stable parkinsonism.
R. Grondin Ph.D.+7 more
doaj +1 more source
An Improved Approach for Prediction of Parkinson's Disease using Machine Learning Techniques [PDF]
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
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