Results 31 to 40 of about 15,463 (269)

The Spinocerebellar Ataxias [PDF]

Journal of Neuro-Ophthalmology, 2009
Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery.
openaire   +2 more sources

Sleep disorders in cerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2011
Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias ...
José L. Pedroso, Pedro Braga-Neto, André C. Felício, Camila C.H. Aquino, Lucila B. Fernandes do Prado, Gilmar Fernandes do Prado, Orlando G.P. Barsottini   +6 more
doaj   +1 more source

Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia [PDF]

, 2012
BACKGROUND: Mutations in the smooth endoplasmic reticulum (sER) calcium channel Inositol Trisphosphate Receptor type 1 (IP3R1) in humans with the motor function coordination disorders Spinocerebellar Ataxia Types 15 and 16 (SCA15/16) and in a ...
Leslie M Loew, Sherry-Ann Brown
core   +2 more sources

MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

Case Reports in Neurology, 2017
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12.
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo   +3 more
doaj   +1 more source

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia [PDF]

, 2010
Background Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world.
Gan Shi-Rui, Lu Chuan-Zhen, Murong Shen-Xing, Shi Sheng-Sheng, Wang Ning, Weng Sheng-Tong, Wu Jian-Jun, Wu Zhi-Ying, Zhao Gui-Xian   +8 more
core   +1 more source

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

International Archives of Otorhinolaryngology, 2017
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim, Juliana Cristina Mesti, Vinicius Ribas Fonseca, João Henrique Faryniuk, Jair Mendes Marques, Rafaella Cardosa Cardoso, Hélio Afonso Ghizoni Teive   +6 more
doaj   +1 more source

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases [PDF]

, 2015
Hereditary and sporadic cerebellar ataxias represent a vast and still growing group of diseases whose diagnosis and differentiation cannot only rely on clinical evaluation.
A D’Abreu, A Ginestroni, A Ieraci, A Inagaki, A Kelp, A Nocuń, A Poretti, A Poretti, A Rolfs, A Solodkin, A Varrone, AC Stanfield, AG Asokan, AJ Barkovitch, AJ Clapp, Alessandra Vella, Allison Jack, AM Tadesco, AM Wong, Andrea P. Jackowski, Andrea Righini, AR Luft, AR Luft, B Kuemerle, B Soong, BC Jung, C Andrés De, C Cheung, C Garel, C Good, C Jacova, C Limperopoulos, C Lukas, C Moller, C Parazzini, C Scaglione, CC Parker, Cecilia Parazzini, CH Lyoo, Christophe Habas, CJ Stoodley, CW Yoon, D Beitzke, DJG Schutter, DL Vargas, DS Woodruff-Park, E Apartis, E Canu, E Courchesne, E Matsusue, E Matsusue, E Pagani, E Prodi, ED Vidoni, F Brancati, F D’Agata, F Eichler, G Malinger, G Tedeschi, GS Young, H Akhlaghi, H Akhlaghi, H Jacobi, HB Cleavinger, I Ferrer, I Iltis, I Sousa, ID Wilkinson, J Honnorat, J Mazere, J Skefos, J Wegiel, JA Brunberg, JB Schulz, JL Whitwell, JM Kim, Jörg B. Schulz, K Andersen, K Brockmann, K Burk, K Burk, K Ishii, K Lasek, K Nanri, K Nanri, K Pierce, K Reetz, K Reetz, K Reetz, K Reetz, K Specht, K-D Choi, Kathrin Reetz, KB Loh, L Baldaçara, L Ji, L Schols, LA Corben, Leonardo Baldarçara, LI Wallis, LR Ramos, LSK Hokkanen, M Abele, M Anheim, M Bricout, M Catani, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Hadjivassiliou, M Mascalchi, M Minnerop, M Rapoport, M Sjobeck, M Verly, M Walterfang, M Walterfang, M. Hadjivassiliou, MA Cheh, Mario Mascalchi, MC Bianchi, ME Steenweg, MR Hatab, N Boddaert, N Gharani, N Kimura, N Kimura, N Kimura, N Ramnani, N Stefano De, Nigel Hoggard, O Bas, OS Cohen, P Braga-Neto, P Brown, P Wang, PA Thomann, PS Wang, R Cabeza, R Della Nave, R Della Nave, R Hashimoto, R Scheid, R Sui, S Alcauter, S Basu, S Currie, S Currie, S Currie, S Currie, S Dohlinger, S Gilman, S Gilman, S Nagamitsu, S Ortega-Cuberoa, S Tanaka, SA Cooper, Sara Jane Webb, SH Fatemi, SH Fatemi, SH Fatemi, SH Fatemi, SJ Webb, SM Boesch, SM Ravizza, Stuart Currie, T Klockgether, T Tarui, T Wu, TD Miller, W Scharmüller, WR Kates, Y Bruecker De, Y Daaboul, Y Hosoi, Y Sunaga   +176 more
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Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study [PDF]

, 2013
Background: All spinocerebellar ataxias (SCAs) are rare diseases. SCA1, 2, 3 and 6 are the four most common SCAs, all caused by expanded polyglutamine-coding CAG repeats.
Ashizawa, Tetsuo, Bushara, Khalaf O, Cuthbertson, David, Ferguson, John H, Figueroa, Karla P, Geschwind, Michael D, Gomez, Christopher M, Holbert, Amy Roberts, Krischer, Jeffrey P, Kuo, Sheng-Han, Mazzoni, Pietro, Paulson, Henry L, Perlman, Susan L, Pulst, Stefan M, Schmahmann, Jeremy D, Shakkottai, Vikram G, Subramony, SH, Wilmot, George R, Xia, Guangbin, Ying, Sarah H, Zesiewicz, Theresa A   +20 more
core   +5 more sources

Ataxic Gait in Essential Tremor: A Disease-Associated Feature?

Tremor and Other Hyperkinetic Movements, 2019
Background: While accumulating evidence suggests that balance and gait impairments are commonly seen in patients with essential tremor (ET), questions remain regarding their prevalence, their relationship with normal aging, whether they are similar to ...
Ashwini K. Rao, Elan D. Louis
doaj   +1 more source

Characteristics of Individuals at Risk for Spinocerebellar Ataxia

Pediatric Neurology Briefs, 2013
Investigators at University Hospital of Bonn and 13 other centers in Germany, France, and Italy conducted a prospective, longitudinal observational study (2008-2011) of offspring or siblings of patients with spinocerebellar ataxias (SCA)-1, 2, 3, and 6.
J Gordon Millichap
doaj   +1 more source