Movement Disorders, EarlyView.

In this randomized phase 3 study in patients with Glut1 deficiency syndrome not receiving a ketogenic diet, triheptanoin, compared with placebo, was no effective in reducing the incidence of disabling paroxysmal movement disorders. Abstract Background Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all...

GDNF gene therapy produced putaminal dopaminergic fiber outgrowth. Abstract Objective Gene therapy by convection-enhanced delivery of type 2 adeno-associated virus-glial cell derived neurotrophic factor (AAV2-GDNF) to the bilateral putamina seeks to increase GDNF gene expression and treat Parkinson's disease (PD). Methods A 63-year-old man...

Abstract Objective Evidence of abnormal α-synuclein (α-Syn) deposition in the brain is required for definitive diagnosis of synucleinopathies, which remains challenging. The seed amplification assay (SAA) is an innovative technique that can detect the seeding activity of misfolded α-Syn, enabling the amplification and detection of minute quantities...

Abstract Background Double-blind studies have demonstrated that motor complications in Parkinson's disease (PD) can be reduced with continuous delivery of levodopa. The DopaFuse system is a novel, intraoral micropump that attaches to a retainer and uses a propellant to deliver levodopa/carbidopa (LD/CD) continuously into the mouth. Objectives Evaluate...

Abstract Background Calcitriol, the active form of vitamin D (also known as 1,25-dihydroxycholecalciferol), improves the phenotype and increases frataxin levels in cell models of Friedreich ataxia (FRDA). Objectives Based on these results, we aimed measuring the effects of a calcitriol dose of 0.25 mcg/24h in the neurological function and frataxin...