Gaucher Disease: How a Rare Disease Provides a Window into Common Neurodegenerative Disorders

WALS Astute Clinician Lecture The speaker, Dr. Ellen Sidransky, is the Branch Chief of the Medical Genetics Branch and is a pediatrician and geneticist in the National Human Genome Research Institute at National Institutes of Health (NIH). Her research interests include both clinical and basic aspects of Gaucher disease and Parkinson disease, studies of genotype/phenotype correlation and genetic modifiers, insights from mouse models, and novel treatment strategies. She played a lead role in establishing the association between glucocerebrosidase and parkinsonism. The author of over 200 publications, she continues to focus on the complexity encountered in " simple " Mendelian disorders, the role of lysosomal pathways in parkinsonism, and the development of small molecule chaperone therapies for Gaucher disease and for parkinsonism.For more information go to date: 11/4/2020 3:00:00 PM
Source: Videocast - All Events - Category: General Medicine Tags: Upcoming Events Source Type: video

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CONCLUSIONS: The Korean MDS-UPDRS has the same overall structure as the English MDS-UPDRS. Our translated scale can be designated as the official Korean MDS-UPDRS. PMID: 33029970 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Hence, it is important to work with patients and their families to identify and strengthen adaptive and coping behaviors. That is possible only through the synergistic working of a multidisciplinary team made up of experienced doctors, psychologists, and social workers while in contact with patient Associations. PMID: 33034432 [PubMed - as supplied by publisher]
Source: Giornale Italiano di Dermatologia e Venereologia - Category: Dermatology Tags: G Ital Dermatol Venereol Source Type: research
CONCLUSIONS The expression of lncRNAs in peripheral blood differed significantly in PD patients and controls. These differentially expressed lncRNAs may play a role in the development of PD. PMID: 33031356 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
Parkinson's disease (PD) patients with freezing of gait (FOG) can suddenly lose their forward moving ability leading to unexpected falls. To overcome FOG and avoid the falls, a real-time accurate FOG detection or prediction system is desirable to trigger o...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
Freezing of gait (FOG) is a sudden cessation of locomotion in advanced Parkinson's disease (PD). A FOG episode can lead to falls, decreased mobility, and decreased overall quality of life. Prediction of FOG episodes provides an opportunity for intervention...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
How to address the counseling of lifetime risk of developing Parkinson ’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Position statement Source Type: research
ABSTRACT Bi-allelic GBA1 mutations cause Gaucher's disease (GD), the most common lysosomal storage disorder. Neuronopathic manifestations in GD include neurodegeneration, which can be severe and rapidly progressive. GBA1 mutations are also the most frequent genetic risk factors for Parkinson's disease. Dysfunction of the autophagy-lysosomal pathway represents a key pathogenic event in GBA1-associated neurodegeneration. Using an induced pluripotent stem cell (iPSC) model of GD, we previously demonstrated that lysosomal alterations in GD neurons are linked to dysfunction of the transcription factor EB (TFEB). TFEB controls t...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Stem Cells, Rare diseases RESEARCH ARTICLE Source Type: research
Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson ’s disease (PD) is the second most common neurodegenerative condition. The cl...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
ABSTRACT Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses. Here, we review the strategies employed for reprogramming and differentiation, as well as insights in...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Neurodegenerative Disorders REVIEW Source Type: research
Publication date: 22 February 2017 Source:Neuron, Volume 93, Issue 4 Author(s): Elma Aflaki, Wendy Westbroek, Ellen Sidransky The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. While the underlying mechanisms are still debated, this complicated a...
Source: Neuron - Category: Neuroscience Source Type: research
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