Results 41 to 50 of about 33,006 (235)

Novel mutation in exon11 of PRKCG (SCA14): A case report

Frontiers in Genetics, 2023
Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus.
Rong Sun, Xiang Tang, Xueqin Cao, Xinyu Shao, Hong Sun   +4 more
doaj   +1 more source

Epidemiology of Spinocerebellar Ataxias in Europe

The Cerebellum, 2023
AbstractSpinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing.
De Mattei, Filippo, Ferrandes, Fabio, Gallone, Salvatore, Canosa, Antonio, Calvo, Andrea, Chiò, Adriano, Vasta, Rosario   +6 more
openaire   +3 more sources

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia. [PDF]

, 2019
Spinocerebellar ataxias is an umbrella term for clinically- and neuropathologically-heterogeneous early-onset hereditary neurodegenerative diseases affecting several dog breeds.
Elisabeth Dietschi, Vidhya Jagannathan, Marco Nieburg, Corinne Gurtner, Nieburg, Marco, Gurtner, Corinne, Dietschi, Elisabeth, Anna Oevermann, Cord Drögemüller, Jagannathan, Vidya, Oevermann, Anna, Drögemüller, Cord, Letko, Anna, Anna Letko   +13 more
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Spinocerebellar ataxia with axonal neuropathy:consequence of a Tdp1 recessive neomorphic mutation? [PDF]

, 2007
Tyrosyl-DNA phosphodiesterase 1 (Tdp1) cleaves the phosphodiester bond between a covalently stalled topoisomerase I (Topo I) and the 3' end of DNA.
Choi, Kunho, Bhattacharjee, Meenakshi B, Northrop, Jennifer L, Champoux, James J, Huang, Cheng, Salih, Mustafa A M, Takashima, Hiroshi, Arimura, Kimiyoshi, Izumo, Shuji, Interthal, Heidrun, Inoue, Ken, Armstrong, Dawna L, Hirano, Ryuki, Umehara, Fujio, Boerkoel, Cornelius F, Nakamura, Tomonori, Deguchi, Kimiko   +16 more
core   +1 more source

Glycine Transporter Blockade Ameliorates Motor Ataxia in a Mouse Model of Spinocerebellar Atrophy

Journal of Pharmacological Sciences, 2009
Ataxic movement, the common major symptom of spinocerebellar atrophy, has been considered to involve impaired glutamatergic excitatory neurotransmission in the cerebellum.
Mitsuo Tanabe, Tomoharu Nakano, Motoko Honda, Hideki Ono   +3 more
doaj   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Recurrent postoperative delirium in spinocerebellar ataxia type 2: a case report

Journal of Medical Case Reports, 2019
Background Postoperative delirium is a relatively uncommon condition in middle aged patients, but very widespread in patients with psychiatric and neurological diseases undergoing general anesthesia.
Laura Levantesi, Germano De Cosmo, Giandomenico Logroscino, Michela Saracco   +3 more
doaj   +1 more source

Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers. [PDF]

PLoS ONE, 2009
BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene ...
Luis Velázquez-Perez, Rosalinda Díaz, Ruth Pérez-González, Nalia Canales, Roberto Rodríguez-Labrada, Jacquelín Medrano, Gilberto Sánchez, Luis Almaguer-Mederos, Cira Torres, Juan Fernandez-Ruiz   +9 more
doaj   +1 more source

Coenzyme Q10 and spinocerebellar ataxias [PDF]

Movement Disorders, 2014
ABSTRACTThe aim of this study was to investigate the association between drug exposure and disease severity in SCA types 1, 2, 3 and 6. The Clinical Research Consortium for Spinocerebellar Ataxias (CRC‐SCA) enrolled 319 participants with SCA1, 2, 3, and 6 from 12 medical centers in the United States and repeatedly measured clinical severity by the ...
Lo, Raymond Y., Figueroa, Karla P., Pulst, Stefan M., Lin, Chi‐ying, Perlman, Susan, Wilmot, George, Gomez, Christopher, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G., Ying, Sarah, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S.H., Ashizawa, Tetsuo, Kuo, Sheng‐han   +17 more
openaire   +4 more sources