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| Open AccessThe α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases
A PET tracer for α-synuclein would help diagnosis and treatment of α-syn-related diseases. Here the authors show that ACI-12589 shows an uptake in the cerebellar white matter in patients with multiple-system atrophy.
- Ruben Smith
- , Francesca Capotosti
- & Oskar Hansson
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| Open AccessAn open label, non-randomized study assessing a prebiotic fiber intervention in a small cohort of Parkinson’s disease participants
This study found that a prebiotic intervention was well-tolerated and safe, beneficially changed the microbiome, decreased inflammation and a marker of neurodegeneration, with possible clinical effects in Parkinson’s disease (PD) patients. This study offers the rationale for further investigations using prebiotic fibers in PD.
- Deborah A. Hall
- , Robin M. Voigt
- & Ali Keshavarzian
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| Open AccessSubthalamic nucleus stabilizes movements by reducing neural spike variability in monkey basal ganglia
Chemogenetic inactivation of the subthalamic nucleus in monkeys increases spike train variability in the pallidum and prolongs movement time, suggesting its role in stabilizing pallidal spike trains to achieve stable motor control.
- Taku Hasegawa
- , Satomi Chiken
- & Atsushi Nambu
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| Open AccessInsights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42 countries, and highlight an evolving phenotypic spectrum of this disease group and factors influencing diagnostic processes.
- Oya Kuseyri Hübschmann
- , Gabriella Horvath
- & Thomas Opladen
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| Open AccessGene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
Aromatic L-amino acid decarboxylase deficiency (AADC) is a rare neurodevelopmental disorder. Here the authors describe a clinical trial of MR-guided delivery of AAV2-AADC for the treatment of AADC.
- Toni S. Pearson
- , Nalin Gupta
- & Krystof S. Bankiewicz
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| Open AccessPredicting optimal deep brain stimulation parameters for Parkinson’s disease using functional MRI and machine learning
Deep brain stimulation programming for Parkinson’s disease entails the assessment of a large number of possible simulation settings, requiring numerous clinic visits after surgery. Here, the authors show that patterns of functional MRI can predict the optimal stimulation settings.
- Alexandre Boutet
- , Radhika Madhavan
- & Andres M. Lozano
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| Open AccessNon-invasive suppression of essential tremor via phase-locked disruption of its temporal coherence
Aberrant synchronous oscillations have been associated with numerous brain disorders, including essential tremor. The authors show that synchronous cerebellar activity can casually affect essential tremor and that its underlying mechanism may be related to the temporal coherence of the tremulous movement.
- Sebastian R. Schreglmann
- , David Wang
- & Nir Grossman
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| Open AccessDeep neural networks enable quantitative movement analysis using single-camera videos
In the context of diseases impairing movement, quantitative assessment of motion is critical to medical decision-making but is currently possible only with expensive motion capture systems and trained personnel. Here, the authors present a method for predicting clinically relevant motion parameters from an ordinary video of a patient.
- Łukasz Kidziński
- , Bryan Yang
- & Michael H. Schwartz
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| Open AccessGenome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy
Corticobasal degeneration is a rare neurodegenerative disorder that can only be definitively diagnosed by autopsy. Here, Kouri et al. conduct a genome-wide-association study and identify two genetic susceptibility loci 17q21 (MAPT) and 3p12 (MOBP), and a novel susceptibility locus at 8p12.
- Naomi Kouri
- , Owen A. Ross
- & Dennis W. Dickson
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Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson’s-like movement disorder
Mitophagy selectively disposes of dysfunctional mitochondria and defects in this process lead to a variety of mitochondrial diseases. Here the authors report that the mitochondrial protein PGAM5 is required for the stabilization of mitophagy-inducing protein PINK1, and that mice deficient for the gene coding for PGAM5 show signs of neurodegeneration.
- Wei Lu
- , Senthilkumar S. Karuppagounder
- & Michael Lenardo
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Alternative α-synuclein transcript usage as a convergent mechanism in Parkinson's disease pathology
The protein α-synuclein is implicated in Parkinson's disease. Rhinn and colleagues perform gene expression analysis and find that specific α-synuclein transcripts are preferentially associated with Parkinson's disease, and that they potentiate the accumulation of α-synuclein protein.
- Herve Rhinn
- , Liang Qiang
- & Asa Abeliovich