Publications by authors named "Tal Glinka"
Article Synopsis
- This study investigates the role of MRI in detecting early changes in white matter among patients with genetic Creutzfeldt-Jakob disease (gCJD) and asymptomatic carriers of the E200K mutation.
- Researchers found that symptomatic gCJD patients showed distinct alterations in white matter metrics compared to healthy relatives, specifically in terms of higher mean diffusivity and lower fractional anisotropy values.
- Among healthy relatives, those carrying the E200K mutation with elevated tau protein levels in cerebrospinal fluid exhibited significant white matter changes, suggesting that further monitoring could reveal if these changes predict the development of symptomatic gCJD.
Background: Creutzfeldt-Jakob Disease (CJD) is the most common prion disease in humans causing a rapidly progressive neurological decline and dementia and is invariably fatal. The familial forms (genetic CJD, gCJD) are caused by mutations in the PRNP gene encoding for the prion protein (PrP). In Israel, there is a large cluster of gCJD cases, carriers of an E200K mutation in the PRNP gene, and therefore the largest population of at-risk individuals in the world.
View Article and Find Full Text PDFBackground: Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are risk factors for Parkinson's disease (PD).
Objective: To explore the association between GCase activity, PD phenotype, and probability for prodromal PD among carriers of mutations in the GBA and LRRK2 genes.
Methods: Participants were genotyped for the G2019S-LRRK2 and nine GBA mutations common in Ashkenazi Jews.
Protein homoeostasis is a fundamental requirement for all living cells in order to survive in a dynamic surrounding. Proper levels of AIRAPL (arsenite-inducible RNA-associated protein-like protein) (ZFAND2B) are required in order to maintain cellular folding capacity in metazoans, and functional impairment of AIRAPL results in acceleration of aging and protein aggregation. However, the cellular roles of AIRAPL in this process are not known.
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