Background: Movement disorders are often a prominent part of the phenotype of many neurologic rare diseases. In order to promote awareness and diagnosis of these rare diseases, the International Parkinson's and Movement Disorders Society Rare Movement Disorders Study Group provides updates on rare movement disorders.
Methods: In this narrative review, we discuss the differential diagnosis of the rare disorders that can cause chorea.
Results: Although the most common causes of chorea are hereditary, it is critical to identify acquired or symptomatic choreas since these are potentially treatable conditions. Disorders of metabolism and mitochondrial cytopathies can also be associated with chorea.
Discussion: The present review discusses clues to the diagnosis of chorea of various etiologies. Authors propose algorithms to help the clinician in the diagnosis of these rare disorders.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413136 | PMC |
http://dx.doi.org/10.5334/tohm.548 | DOI Listing |
Commun Biol
January 2025
Mitchell Center for Neurodegenerative Diseases, University of Texas Medical Branch, Galveston, TX, USA.
Aggregation of microtubule-associated tau protein is a distinct hallmark of several neurodegenerative disorders such as Alzheimer's disease (AD), dementia with Lewy bodies (DLB), and progressive supranuclear palsy (PSP). Tau oligomers are suggested to be the primary neurotoxic species that initiate aggregation and propagate prion-like structures. Furthermore, different diseases are shown to have distinct structural characteristics of aggregated tau, denoted as polymorphs.
View Article and Find Full Text PDFCommun Med (Lond)
January 2025
Child and Adolescent Psychiatry and Psychotherapy, University Medical Center Göttingen, Leibniz ScienceCampus Primate Cognition and German Center for Child and Adolescent Health (DZKJ), Göttingen, Germany.
Background: To assess the integrity of the developing nervous system, the Prechtl general movement assessment (GMA) is recognized for its clinical value in diagnosing neurological impairments in early infancy. GMA has been increasingly augmented through machine learning approaches intending to scale-up its application, circumvent costs in the training of human assessors and further standardize classification of spontaneous motor patterns. Available deep learning tools, all of which are based on single sensor modalities, are however still considerably inferior to that of well-trained human assessors.
View Article and Find Full Text PDFSci Data
January 2025
Department of Radiology, China-Japan Friendship Hospital, Beijing, China.
The sharing of multimodal magnetic resonance imaging (MRI) data is of utmost importance in the field, as it enables a deeper understanding of facial nerve-related pathologies. However, there is a significant lack of multi-modal neuroimaging databases specifically focused on these conditions, which hampers our comprehensive knowledge of the neural foundations of facial paralysis. To address this critical gap and propel advancements in this area, we have released the Multimodal Neuroimaging Dataset of Meige Syndrome, Facial Paralysis, and Healthy Controls (MND-MFHC).
View Article and Find Full Text PDFCell Death Dis
January 2025
NMPA Key Laboratory for Research and Evaluation of Narcotic and Psychotropic Drugs, Xuzhou, China.
Neuroinflammation is a key factor in the pathogenesis of Parkinson's disease (PD). Activated microglia in the central nervous system (CNS) and infiltration of peripheral immune cells contribute to dopaminergic neuron loss. However, the role of peripheral immune responses, particularly triggering receptor expressed on myeloid cells-1 (TREM-1), in PD remains unclear.
View Article and Find Full Text PDFParkinsonism Relat Disord
January 2025
Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, NSW, 2145, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, 2145, Australia. Electronic address:
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!