Results 31 to 40 of about 47,175 (263)

Spastic paraplegia is the main manifestation of a spinocerebellar ataxia type 8 lineage in China: a case report and review of literature

Frontiers in Human Neuroscience, 2023
The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by ATXN8OS were found among the 16 people in the studied family ...
Shuling Chen, Siyu Li, Ying Liu, Renyi She, Wei Jiang   +4 more
doaj   +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

HIV-Associated Cerebellar Dysfunction and Improvement with Aminopyridine Therapy: A Case Report

Case Reports in Neurology, 2017
Apart from infectious causes and cerebellar dysfunction associated with acquired immune deficiency syndrome dementia or HIV-associated neurocognitive disorder, cerebellar dysfunction in HIV-positive individuals has been ascribed to granule cell ...
Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar   +4 more
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Cerebellar atrophy and its contribution to motor and cognitive performance in multiple system atrophy

NeuroImage: Clinical, 2019
Objective: Neuroanatomical differences in the cerebellum are among the most consistent findings in multiple system atrophy (MSA) patients. This study performed a detailed cerebellar morphology in MSA patients and its two subtypes: MSA-P (parkinson's ...
HuaGuang Yang, Na Wang, XiaoGuang Luo, Hong Lv, Hu Liu, YingMei Li, GuoGuang Fan   +6 more
doaj   +1 more source

Striatal and extrastriatal atrophy in Huntington's disease and its relationship with length of the CAG repeat

Brazilian Journal of Medical and Biological Research, 2006
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder that affects the striatum most severely. However, except for juvenile forms, relative preservation of the cerebellum has been reported.
H.H. Ruocco, I. Lopes-Cendes, L.M. Li, M. Santos-Silva, F. Cendes   +4 more
doaj   +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

A challenging case presentation of multiple system atrophy cerebellar type: A rare case report from Somalia

Radiology Case Reports
Multiple system atrophy is a rare and quickly progressing neurological condition characterized by autonomic failure, parkinsonism, or cerebellar ataxia.
Nor Osman Sidow, MD, Abdiwahid Ahmed Ibrahim, MD, Ismail Gedi Ibrahim, MD, Mohamed Sheikh Hassan, MD, Said Abdi Mohamed, MD   +4 more
doaj   +1 more source

GAD65 Antibody ELISA With Extended Reportable Range: Validation and Guidance for Neurological Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon, Dana Olofson, Diana Anissian, Divyanshu Dubey, Eoin P. Flanagan, Max C. Herman, Sarosh R. Irani, Daniel H. Lachance, Maria A. Willrich, Sean Pittock, John R. Mills, Anastasia Zekeridou   +11 more
wiley   +1 more source