Publications by authors named "J Tetrud"
Article Synopsis
- The Iowa kindred, a family with autosomal-dominant Parkinson's disease, has been studied since the 1920s at Mayo Clinic, leading to the discovery of a genetic triplication that causes the disease.
- A descendant of this family presented unique symptoms, including reduced heart rate variability, loss of smell, and a rare skin condition, alongside typical Parkinson's disease features.
- Detailed genetic analysis revealed significant genomic changes, supporting the idea that even a small increase in alpha-synuclein levels can result in severe and rapidly progressing neurodegenerative disease.
Background: Mutations in the leucine rich repeat kinase 2 (LRRK2) gene are among the most common genetic causes of Lewy body Parkinson's disease (PD). However, LRRK2 mutations can also lead to a variety of pathological phenotypes other than typical PD, including relatively pure nigrostriatal cell loss without alpha-synuclein-positive Lewy bodies or Lewy neurites, progressive supranuclear palsy (PSP), and multiple system atrophy (MSA). The mechanisms behind this remarkable pleomorphic pathology are currently unclear.
View Article and Find Full Text PDFBackground: IPX066 (Rytary®; carbidopa and levodopa [CD-LD] extended-release capsules) was designed to achieve therapeutic LD plasma concentrations within 1h of dosing and maintain LD concentrations for a prolonged duration in early or advanced Parkinson's disease (PD).
Methods: In this open-label study, patients underwent 6weeks of conversion to IPX066 from their prior controlled-release (CR)±immediate-release (IR) CD-LD therapy and 6months of maintenance (with an additional 6months of IPX066 at some sites). Clinical utility was assessed at both the end of conversion and maintenance.
Importance: Coenzyme Q10 (CoQ10), an antioxidant that supports mitochondrial function, has been shown in preclinical Parkinson disease (PD) models to reduce the loss of dopamine neurons, and was safe and well tolerated in early-phase human studies. A previous phase II study suggested possible clinical benefit.
Objective: To examine whether CoQ10 could slow disease progression in early PD.