Publications by authors named "S Fahn"
Article Synopsis
- - Variants in the CTSB gene are linked to an increased risk of Parkinson's disease (PD) and affect the activity of cathepsin B, an enzyme involved in breaking down proteins and regulating cellular processes related to autophagy and lysosome function.
- - CatB can both degrade the harmful alpha-synuclein protein associated with PD and potentially create shorter versions of it that are more prone to aggregation, complicating its role in PD pathology.
- - Experiments showed that inhibiting catB disrupts autophagy and lysosomal function, leading to an accumulation of toxic protein aggregates, while activating catB enhances the clearance of these aggregates in cell and neuron models.
Article Synopsis
- Variants in the GBA gene, which codes for glucocerebrosidase (GCase), are major genetic risk factors for Parkinson's disease (PD), leading to decreased GCase activity.
- A genome-wide association study was conducted using two cohorts to identify common variants related to GCase activity, confirming known variants and discovering a new link involving the GAA gene, which encodes for acid alpha-glucosidase.
- The identified associations suggest that other PD-risk loci may also influence GCase activity, indicating a need for further studies to explore these relationships and their functional implications.
Background: Studies have suggested that intrinsic auricular muscle zones (IAMZ) stimulation alleviates motor features of Parkinson disease (PD).
Methods: A randomized, blinded, active sham-controlled pilot trial was conducted to evaluate the safety and dose-response-time curve of Earstim using a 3-treatment, 3-period crossover design in PD patients experiencing OFF time on levodopa. Treatments were: short (20-min) IAMZ stimulation; long (60-min) IAMZ stimulation; and 20-min active sham stimulation of non-muscular areas.
Strabismus, deviation of the ocular alignment, can adversely affect quality of life and activities of daily living. Surgery was the prior standard of care for strabismus, but up to 40% of patients required additional surgeries. This need for more effective and less invasive treatment, along with the convergence of other events such as the development of electromyography, purification of botulinum toxin A, and the finding that injection of botulinum toxin type A could paralyze the hind limbs of chicks, led Dr.
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