Does Niemann Pick Type C heterozygosity predispose to late-onset neurodegeneration?
Objective: Do single NPC1 or NPC2 mutation also predispose to late-onset neurodegeneration, e. g. PD or dementia? Background: Niemann-Pick type C (NPC) is an autosomal…Patient and Caregiver Experience With Pantothenate Kinase-Associated Neurodegeneration
Objective: To investigate the natural history of pantothenate kinase-associated neurodegeneration (PKAN) and the burden of illness. Background: PKAN is a rare autosomal recessive, progressive neurodegenerative…Corticomuscular and Intermuscular Coherence as a Biomarker of Pallidal Deep Brain Stimulation Efficacy in Dystonia
Objective: To find a biomarker of GPi-DBS efficacy in dystonia. Background: GPi-DBS has been proven effective and safe in medically refractory dystonia. However, the heterogeneity…Mirthful laughter avoided by directional stimulation in a Parkinson’s disease patient treated with deep brain stimulation
Objective: Show how directional steering stimulation can avoid non motor adverse effects in Parkinson disease patient underwent DBS. Background: Deep brain stimulation (DBS) has become…Single centre experiences of directional leads in Parkinson patients
Objective: To evaluate the use of segmented lead technology in clinical routine in patients undergoing subthalamic nucleus deep brain stimulation (STN-DBS). Background: Due to the…
