Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/1531-8257(199909)14:5<879::aid-mds1031>3.0.co;2-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3.
Ann Afr Med
July 2024
Neurology and Neurophysiology Center, Vienna, Austria.
Hyperkinesias in a patient with complex-I deficiency due to the variant m.10191T>C in MT-ND3 have not been previously reported. The patient is a 32 years-old female with multisystem mitochondrial disease due to variant m.
View Article and Find Full Text PDFToo little or too much nocturnal movements in Parkinson's disease: A practical guide to managing the unseen.
Clin Park Relat Disord
May 2024
Chulalongkorn Centre of Excellence for Parkinson's Disease & Related Disorders, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Thai Red Cross Society, Bangkok 10330, Thailand.
Nocturnal and sleep-related motor disorders in people with Parkinson's disease (PD) have a wide spectrum of manifestations and present a complex clinical picture. Problems can arise due to impaired movement ability (hypokinesias), e.g.
View Article and Find Full Text PDFHyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Mov Disord Clin Pract
June 2024
Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Background: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens-associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency.
Objectives: The objective is to characterize the movement disorder in affected patients with the recurrent c.
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
HGG Adv
July 2024
Amsterdam Reproduction & Development, Amsterdam, the Netherlands; Amsterdam UMC location University of Amsterdam, Emma Children's Hospital, Department of Pediatrics, Amsterdam, the Netherlands; Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam, the Netherlands. Electronic address:
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated in PTHS, prompting the investigation of a DNA methylation (DNAm) "episignature" specific to PTHS for diagnostic purposes and variant reclassification and functional insights into the molecular pathophysiology of this disorder. A cohort of 67 individuals with genetically confirmed PTHS and three individuals with intellectual disability and a variant of uncertain significance (VUS) in TCF4 were studied.
View Article and Find Full Text PDFGrid cells: the missing link in understanding Parkinson's disease?
Front Neurosci
February 2024
SANA Hospital Leipzig County, Borna, Germany.
The mechanisms underlying Parkinson's disease (PD) are complex and not fully understood, and the box-and-arrow model among other current models present significant challenges. This paper explores the potential role of the allocentric brain and especially its grid cells in several PD motor symptoms, including bradykinesia, kinesia paradoxa, freezing of gait, the bottleneck phenomenon, and their dependency on cueing. It is argued that central hubs, like the locus coeruleus and the pedunculopontine nucleus, often narrowly interpreted in the context of PD, play an equally important role in governing the allocentric brain as the basal ganglia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!