Results 61 to 70 of about 55,413 (307)

Spinocerebellar ataxia type 6 in Brazil Ataxia espinocerebelar tipo 6 no Brasil

Arquivos de Neuro-Psiquiatria, 2008
Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13.
Hélio A.G. Teive, Renato Puppi Munhoz, Salmo Raskin, Lineu César Werneck   +3 more
doaj   +1 more source

Update in Autoimmune Movement Disorders: Newly Described Antigen Targets in Autoimmune and Paraneoplastic Cerebellar Ataxia

Frontiers in Neurology, 2021
Movement disorders are a common feature of many antibody-associated neurological disorders. In fact, cerebellar ataxia is one of the most common manifestations of autoimmune neurological diseases.
Madeline Garza, Amanda L. Piquet
doaj   +1 more source

Cerebellar volumetry in ataxias: Relation to ataxia severity and duration

The Cerebellum, 2023
Abstract Background: Cerebellar atrophy is the neuropathological hallmark of most ataxias. Hence, quantifying the volume of the cerebellar grey and white matter is of great interest. In this study, we aim to identify volume differences in the cerebellum between spinocerebellar ataxia type 1 (SCA1), SCA3 and SCA6 as well as multiple system ...
Ferreira, Mónica, Schaprian, Tamara, Kügler, David, Reuter, Martin, Deike-Hoffmann, Katharina, Timmann, Dagmar, Ernst, Thomas M., Giunti, Paola, Garcia-Moreno, Hector, van de Warrenburg, Bart, van Gaalen, Judith, de Vries, Jeroen, Jacobi, Heike, Steiner, Katharina Marie, Öz, Gülin, Joers, James M., Onyike, Chiadi, Povazan, Michal, Reetz, Kathrin, Romanzetti, Sandro, Klockgether, Thomas, Faber, Jennifer   +21 more
openaire   +9 more sources

Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life

, 2007
Friedreich ataxia (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene. Primary neurodegeneration involving the dorsal root ganglia (DRG) results in progressive ataxia.
Ramussen, A, De Biase, Irene, Monticelli, A, Bidichandani, Sanjay I., De Biase, I, Al-Mahdawi, S, Pook, Mark, Cocozza, S, Al-Mahdawi, Sahar, Pook, M A, Bidichandani, S, Monticelli, Antonella, Cocozza, Sergio, Rasmussen, Astrid   +13 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

BREAST CANCER ASSOCIATED ANTI YO-ANTIBODY MEDIATED PARANEOPLASTIC CEREBELLAR DEGENERATION: CASE SERIES AND REVIEW OF LITERATURE

Malang Neurology Journal, 2022
Paraneoplastic cerebellar degeneration (PCD) is a rare immune mediated disorder characterized by progressive cerebellar ataxia in presence of onconeural antibodies which occurs due to an indirect effect of underlying malignancy i.e.
Sanaullah Mudassir, Ashok Kumar, Neetu Sinha, Abhay Ranjan   +3 more
doaj   +1 more source

CEREBRO-CEREBELLAR ATAXIA [PDF]

The Journal of Nervous and Mental Disease, 1916
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openaire   +2 more sources

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  

Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

, 2011
NOTICE: this is the author’s version of a work that was accepted for publication in Neurobiology of Disease. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control ...
Ezzatizadeh, V, Rusche, James R., Steve Jones, James R. Rusche, Gottesfeld, Joel M., Jones, S, Sandi, C, Barnes, Glenn, Joel M. Gottesfeld, Pook, MA, Pinto, RM, Al-Mahdawi, Sahar, Chiranjeevi Sandi, Sandi, Chiranjeevi, Barnes, G, Mark A. Pook, Pinto, Ricardo Mouro, Al-Mahdawi, S, Jones, Steve, Pook, Mark A., Vahid Ezzatizadeh, Ezzatizadeh, Vahid, Sahar Al-Mahdawi, Rusche, JR, Ricardo Mouro Pinto, Gottesfeld, JM, Glenn Barnes   +26 more
core   +1 more source

The sodium-potassium pump controls the intrinsic firing of the cerebellar Purkinje neuron [PDF]

, 2012
In vitro, cerebellar Purkinje cells can intrinsically fire action potentials in a repeating trimodal or bimodal pattern. The trimodal pattern consists of tonic spiking, bursting, and quiescence.
Mark J. Wall, Daniel A. Press, Feng, Jianfeng, Jianfeng Feng, Forrest, Michael D., Michael D. Forrest, Michael D Forrest, Press, Daniel A., Wall, Mark J., Mark J Wall, Daniel A Press   +10 more
core   +1 more source