Results 61 to 70 of about 7,564,623 (164)

Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers. [PDF]

Mov Disord Clin Pract
ABSTRACTBackgroundX‐linked dystonia‐parkinsonism (XDP) is a rare movement disorder characterized by profound neurodegeneration in the basal ganglia. The molecular consequences and the bioenergetic state of affected individuals remain largely unexplored.ObjectivesTo investigate the bioenergetic state in male patients with XDP and female carriers using ...
Prasuhn J, Henkel J, Algodon SM, Uter J, Rosales RL, Klein C, Steinhardt J, Diesta CC, Brüggemann N.   +8 more
europepmc   +3 more sources

Apathy in Parkinson's Disease: Distinguishing Overlapping Symptoms Via Network Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Anxiety, fatigue, and excessive daytime sleepiness (EDS) frequently co‐occur in Parkinson's disease (PD) and can influence the clinical determination of apathy. Objective To distinguish patient‐reported apathy from other non‐motor symptoms.
Joseph Seemiller, Abhimanyu Mahajan, Christopher B. Morrow, Joseph F. McGuire, Dawn Bowers, Kelly A. Mills, Gregory M. Pontone   +6 more
wiley   +1 more source

Genetic Etiologies of Dystonia with Anarthria/Aphonia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey, Eriberto Rayco, Maziar Emamikhah Abarghouei, Susan H. Fox, Anthony E. Lang, George M. Ibrahim, Carolina Gorodetsky, Christos Ganos   +7 more
wiley   +1 more source

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

, 2016
X-linked dystonia-parkinsonism (XDP) is a recessive disorder characterized by generalized dystonia with some patients exhibiting parkinsonism. The disease gene, DYT3, is located between DXS453 (DXS993) and DXS559, and strongest linkage disequilibrium is ...

core   +1 more source

A Gap Analysis of Deep Brain Stimulation for Childhood‐Onset Movement Disorders

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) is an established and increasingly utilized therapy for childhood‐onset movement disorders. However, pediatric DBS poses unique challenges that are not adequately addressed by adult‐derived paradigms. Objective To identify key gaps in the current use of DBS in childhood‐onset movement disorders and to ...
Daniela Munoz‐Chesta, Carolina Gorodetsky, Todd M. Herrington, Angela L. Hewitt, Daniel E. Lumsden, Jennifer O'Malley, Terence Sanger   +6 more
wiley   +1 more source

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

Molecular Genetics & Genomic Medicine, 2020
Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia ...
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu   +6 more
doaj   +1 more source

Optimizing Genetic Analyses for Movement Disorders: A Unified Panel Approach and Targeted Reanalysis of 4,046 Clinical Exomes

Movement Disorders, EarlyView.
Abstract Background Molecular testing for genetic movement disorders (MDs) increasingly relies on exome‐ or genome‐based virtual gene panels. In the absence of consensus guidelines, MD panel design remains heterogeneous across laboratories, with international variation in panel configuration and gene content.
Teodora Barbarii, Sanne P. Smeekens, Maartje Pennings, Galuh Astuti, Lisenka E.L.M. Vissers, Helger G. Yntema, Christian Gilissen, Bart van de Warrenburg, Erik‐Jan Kamsteeg   +8 more
wiley   +1 more source

The characteristics of perivascular proinflammation in 4‐repeat tauopathies

Brain Pathology, EarlyView.
The spatial distribution of perivascular proinflammation differs between PSP and CBD: PSP shows a predominance in basal ganglia (BG), whereas CBD demonstrates more widespread involvement of both BG and superior/middle frontal gyrus (S/M‐FG). PSP exhibits profound proinflammatory activation around venules while CBD affects a comparable magnitude around ...
Mu‐Hui Fu, Gokhan Uruk, Rodolfo G. Gatto, R. Ross Reichard, Jennifer L. Whitwell, Keith A. Josephs   +5 more
wiley   +1 more source