Results 51 to 60 of about 27,164 (223)

Spinocerebellar Ataxia Type 3: A Case Report and Literature Review [PDF]

Journal of Neuropathology & Experimental Neurology, 2020
Abstract Spinocerebellar ataxia type 3 (SCA3), also known by the eponym Machado-Joseph disease, is an autosomal dominant CAG trinucleotide (polyglutamine) repeat disease that presents in young- to middle-aged adults. SCA3 was first described in Azorean individuals and has interesting epidemiological patterns.
Matthew R, McCord, Eileen H, Bigio, Kwok Ling, Kam, Victoria, Fischer, Farres, Obeidin, Charles L, White, Daniel J, Brat, William A, Muller, Qinwen, Mao   +8 more
openaire   +2 more sources

Fatigue in the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 3. [PDF]

Eur J Neurol
ABSTRACTObjectiveFatigue is a significant symptom in patients with spinocerebellar ataxia type 3 (SCA3). This study explores the role of fatigue in SCA3, examining its impact on quality of life and its potential as an indicator of disease progression.MethodsWe prospectively recruited 128 molecularly confirmed SCA3 patients and 125 sex‐, age‐, and ...
Chen ZL, Xiao LM, Li C, Qiu LL, Lin W, Ye ZX, Zhang YY, Zhu ZB, Li MC, Lin MT, Chen WJ, Wang N, Fu Y, Gan SR, OSCCAR Investigators.   +14 more
europepmc   +3 more sources

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes
Anjomani-Virmouni, S, Ezzatizadeh, V, Jassal Harvinder, Madhavi Sandi, Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani-Virmouni Sara, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sandi, C, Sandi Madhavi, Sandi, M, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Ezzatizadeh Vahid, Harvinder Jassal, Pook Mark A., Mark A Pook, Jassal, H   +20 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

Electronystagmography findings in spinocerebellar ataxia type 3 (SCA3) and type 2 (SCA2)

Arquivos de Neuro-Psiquiatria, 2011
OBJECTIVE: To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3.
Bianca Simone Zeigelboim, Hélio A.G. Teive, Rosane Sampaio, Ari Leon Jurkiewicz, Paulo B.N. Liberalesso   +4 more
doaj   +1 more source

Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila. [PDF]

PLoS Genetics, 2007
Spinocerebellar ataxia type-3 (SCA3) is among the most common dominantly inherited ataxias, and is one of nine devastating human neurodegenerative diseases caused by the expansion of a CAG repeat encoding glutamine within the gene.
Julide Bilen, Nancy M Bonini
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

ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice

, 2012
Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Damrath, Ewa, Joachim Nowock (139049), Azizov, Mekhman, Seifried, Carola, Nowock, Joachim, Rüb, Udo, Suzana Gispert (139045), Udo Rüb (139053), Mekhman Azizov (139047), Auburger, Georg, Mekhman Azizov, Joachim Nowock, Melanie V. Heck (139043), Michael Walter (139055), Walter, Michael, Carola Seifried, Gispert, Suzana, Carola Seifried (139051), Heck, Melanie V., Suzana Gispert, Georg Auburger (139057), Michael Walter, Georg Auburger, Melanie V Heck, Udo Rüb, Ewa Damrath, Ewa Damrath (139041)   +26 more
core   +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

The progression rate of spinocerebellar ataxia type 3 varies with disease stage

Journal of Translational Medicine, 2022
Background In polyglutamine (polyQ) diseases, the identification of modifiers and the construction of prediction model for progression facilitate genetic counseling, clinical management and therapeutic interventions.
Linliu Peng, Yun Peng, Zhao Chen, Chunrong Wang, Zhe Long, Huirong Peng, Yuting Shi, Lu Shen, Kun Xia, Vanessa B. Leotti, Laura Bannach Jardim, Beisha Tang, Rong Qiu, Hong Jiang   +13 more
doaj   +1 more source