Altered Cerebrospinal Fluid Tryptophan–Kynurenine Pathway Metabolism in Multiple System Atrophy
Abstract Background Alterations in tryptophan–kynurenine (TRP‐KYN) metabolism, which is associated with neuroinflammation, remain unclear in multiple system atrophy (MSA). Objective The aim was to investigate cerebrospinal fluid (CSF) TRP metabolites in MSA and their associations with other biomarkers.
Ryunosuke Nagao +8 more
wiley +1 more source
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study. [PDF]
Kerestes R +63 more
europepmc +1 more source
In Vivo Mapping of Catecholaminergic Loss and Iron Deposition in Huntington's Disease
Abstract Background The pathophysiology of Huntington's disease (HD) remains obscure. Magnetic resonance imaging (MRI) can reveal in vivo molecular changes related to disease pathology. Objectives To investigate catecholaminergic neuronal integrity and subcortical brain iron accumulation in HD employing neuromelanin‐sensitive MRI, and quantitative ...
Edoardo R. de Natale +11 more
wiley +1 more source
POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation
Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou +4 more
wiley +1 more source
Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi +9 more
wiley +1 more source
Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan +10 more
wiley +1 more source
Temporal Dynamics of Parkinson's Disease Tremor: Clinical and Neuroimaging Insights
Abstract Background Parkinson's disease (PD) is a progressive neurodegenerative disorder clinically defined by three cardinal motor symptoms: bradykinesia, rigidity, and tremor. Although the natural history of bradykinesia and rigidity is well described, the evolution of tremor as the disease progresses remains controversial. Objectives The goal was to
Melanie Suette +15 more
wiley +1 more source
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy. [PDF]
Ashaat EA +13 more
europepmc +1 more source
A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]
Ikeda, Yoshio +13 more
core +1 more source
Delayed Cerebellar Atrophy [PDF]
openaire +1 more source

