Results 91 to 100 of about 104,697 (299)

Exome sequencing identifies novel genes associated with cerebellar volume and microstructure

Communications Biology
Proteins encoded by exons are critical for cellular functions, and mutations in these genes often result in significant phenotypic effects. The cerebellum is linked to various heritable human disease phenotypes, yet genome-wide association studies have ...
Yuanyuan Liang, Dongrui Ma, Mengjie Li, Zhiyun Wang, Chenwei Hao, Yuemeng Sun, Xiaoyan Hao, Chunyan Zuo, Shuangjie Li, Yanmei Feng, Shasha Qi, Yunpeng Wang, Shilei Sun, Yu-Ming Xu, Ole A. Andreassen, Changhe Shi   +15 more
doaj   +1 more source

Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition

Arquivos de Neuro-Psiquiatria, 2015
Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation.
Wladimir Bocca Vieira de Rezende Pinto, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque, Orlando Graziani Povoas Barsottini   +4 more
doaj   +1 more source

Combined cerebellar and bilateral cervical posterior spinal artery stroke demonstrated on MRI [PDF]

, 2003
Combined cerebellar and spinal ischemic stroke is a rare, critical condition. We report a patient with combined cerebellar and bilateral posterolateral cervical spinal cord infarction due to bilateral stenosis of the vertebral arteries. MRI is the method
Müller-Schunk, S., Reich, P., Scheuerer, W., Liebetrau, M., Hamann, Gerhard F., Brückmann, H.   +5 more
core   +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

Acute cerebellar ataxia: differential diagnosis and clinical approach

Arquivos de Neuro-Psiquiatria
Cerebellar ataxia is a common finding in neurological practice and has a wide variety of causes, ranging from the chronic and slowly-progressive cerebellar degenerations to the acute cerebellar lesions due to infarction, edema and hemorrhage, configuring
José Luiz Pedroso, Thiago Cardoso Vale, Pedro Braga-Neto, Lívia Almeida Dutra, Marcondes Cavalcante França Jr, Hélio A. G. Teive, Orlando G. P. Barsottini   +6 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

Monitoring performance degradation of cerebellar functions using computational neuroscience methods: implications on neurological diseases. [PDF]

, 2012
Neurodegeneration is a major cause of human disease. Within the cerebellum, neuronal degeneration and/or dysfunction has been associated with many diseases, including several forms of cerebellar ataxia, since normal cerebellar function is paramount for ...
Robert A Nawrocki, Nawrocki Robert A., Shaalan Majid, Majid Shaalan, Lorenzon Nancy M., Nancy M Lorenzon, Shaheen Sean E., Sean E Shaheen   +7 more
core   +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

Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]

, 2009
Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H., van de Leemput, J C H   +1 more
core  

Development of a morphometric magnetic resonance image parameter suitable for distinguishing between normal dogs and dogs with cerebellar atrophy [PDF]

, 2010
Neurodegenerative diseases affect the cerebellum of numerous dog breeds. Although subjective, magnetic resonance (MR) imaging has been used to detect cerebellar atrophy in these diseases, but there are few data available on the normal size range of the ...
Thames, R.A., Flegel, T., O'Brien, D.P., Robertson, I.D., Henke, D., Olby, N.J., Coates, J.R.   +6 more
core   +1 more source