Results 31 to 40 of about 70,366 (259)

Fahr’s syndrome and idiopathic hypoparathyroidism: A case report [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Fahr´s syndrome is a rare, slowly progressive, neurodegenerative disorder, characterised by extensive, bilateral, and symmetrical basal ganglia calcification.
Marinković Dejan M., Dragović Tamara, Kiković Saša, Kuzmić-Janković Snežana, Đuran Zorana, Hajduković Zoran   +5 more
doaj   +1 more source

Extrapyramidal syndromes of chronic kidney disease and dialysis (diabetic uremic syndrome) with reversible parkinsonism and lentiform fork sign: A case report and literature review including metformin-induced encephalopathy

Heliyon, 2023
Diabetic uremic syndrome has been rarely reported in patients on maintenance dialysis for diabetic nephropathy who present subacutely with neurological symptoms and bilateral basal ganglia lesions.
Takeo Sakurai, Hiroshi Nishida
doaj   +1 more source

Lesch–Nyhan disease and the basal ganglia

Brain Research Reviews, 2000
The purpose of this review is to summarize emerging evidence that the neurobehavioral features of Lesch-Nyhan disease (LND), a developmental disorder caused by congenital deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), may be attributable to dysfunction of the basal ganglia.
Visser, J.E., Bär, P.R., Jinnah, H.A.
openaire   +4 more sources

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Ketamine-induced oscillations in the motor circuit of the rat basal ganglia. [PDF]

PLoS ONE, 2011
Oscillatory activity can be widely recorded in the cortex and basal ganglia. This activity may play a role not only in the physiology of movement, perception and cognition, but also in the pathophysiology of psychiatric and neurological diseases like ...
María Jesús Nicolás, Jon López-Azcárate, Miguel Valencia, Manuel Alegre, Marta Pérez-Alcázar, Jorge Iriarte, Julio Artieda   +6 more
doaj   +1 more source

The biochemistry of the basal ganglia and Parkinson's disease [PDF]

Postgraduate Medical Journal, 1977
SummaryThe metabolic pathways for five transmitters in the basal ganglia are briefly described; the results of determinations of their concentrations, of their rate-limiting enzymes and of their degradation products are summarized. The changes found in Parkinson's disease are described. While dopamine synthesis in the basal ganglia is defective in this
openaire   +2 more sources

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source