Results 81 to 90 of about 13,218 (187)

Natural Killer Subset Changes and Vascular Endothelial Growth Factor‐A Plasma Profile in Progressive Supranuclear Palsy: The NKscape Study

Movement Disorders, EarlyView.
Abstract Background Emerging evidence implicates neuroinflammation in progressive supranuclear palsy (PSP) pathophysiology, with elevated cyto‐chemokines suggesting natural killer (NK) cell involvement. Methods We characterized peripheral NK in PSP (N = 11) versus Parkinson's disease (PD, N = 10) and healthy controls (HC, N = 8) at both ...
Marina Picillo, Cristina Basile, Francesco Montella, Valentina Lopardo, Mariangela Orlando, Roberta Tarallo, Domenico Palumbo, Viola Melone, Maria Francesca Tepedino, Paolo Barone, Annibale Alessandro Puca, Elena Ciaglia   +11 more
wiley   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Burden of non-motor symptoms in Parkinson’s disease and atypical parkinsonism syndromes: A single-center cross-sectional comparison study

Annals of Movement Disorders
BACKGROUND: Non motor symptoms (NMS) in idiopathic Parkinson’s disease (IPD) and atypical Parkinsonism (APD), are common. There are very few Indian studies addressing the frequency and burden in APD.
Narendra Barad, Dnyaneshwar Asole, Mahendra Thakre, Charulata Sankhla   +3 more
doaj   +1 more source

Neuromotor rehabilitation in Parkinsonian syndromes: outcomes and disability after hip fracture

European Journal of Medical Research
Background Patients with Parkinsonian syndromes, including Parkinson’s disease (PD) and atypical parkinsonism (AP), are at increased risk of disability following hip fracture.
Pietro Giuseppe Scamarcia, Ferdinando Ambrosi, Alessandra Demontis, Emanuela Monica Huci, Sabrina Perego, Luca Sanavia, Laura Vulpio, Gianluca Concardi   +7 more
doaj   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Lymphomatosis cerebri presenting with rapidly progressive parkinsonism and Holmes tremor: a case report

BMC Neurology
Background Lymphomatosis cerebri (LC) is a rare subtype of primary central nervous system lymphoma (PCNSL) characterized by diffuse infiltration without mass formation.
Tsukika Iguchi, Tsuyoshi Furuya, Takahiro Koinuma, Asuka Nakajima, Atsuhito Fuse, Hiroto Eguchi, Yasunori Sugiyama, Yasushi Shimo   +7 more
doaj   +1 more source

Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions

Clinical Parkinsonism & Related Disorders
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric ...
Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano   +9 more
doaj   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Case Report: Lewy body dementia with unusual psychotic symptoms, atypically late parkinsonism, and patient sensitivity to first generation antipsychotics

Frontiers in Psychiatry
Lewy body dementia is associated with abnormal eosinophilic A-synuclein neural inclusions (Lewy bodies) in the brain. It is a neurodegenerative illness—and the second most common type of dementia after Alzheimer’s disease—that causes memory loss and ...
Lolita Ercika, Lolita Ercika, Maris Taube, Maris Taube, Maris Taube   +4 more
doaj   +1 more source

Incidental Resolution of Dopamine Agonist Induced Impulse Control Disorder with GLP‐1 Receptor Agonist

Movement Disorders Clinical Practice, EarlyView.
Hannah Kelly, Thomas Davis
wiley   +1 more source