Role of glutathione S-transferases in the spinocerebellar ataxia type 2 clinical phenotype

2014 ◽  
Vol 341 (1-2) ◽  
pp. 41-45 ◽  
Author(s):  
D. Almaguer-Gotay ◽  
L.E. Almaguer-Mederos ◽  
R. Aguilera-Rodríguez ◽  
A. Estupiñán-Rodríguez ◽  
Y. González-Zaldivar ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Clinical Phenotype ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Glutathione S Transferases

Glutathione S-transferase omega 2 influence the clinical phenotype of spinocerebellar ataxia type 2

2013 ◽  
Vol 333 ◽  
pp. e128
Author(s):  
L. Almaguer Mederos ◽  
R. Aguilera Rodríguez ◽  
D. Almaguer Gotay ◽  
Y. González Zaldivar ◽  
D. Cuello Almarales ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Clinical Phenotype ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Glutathione S Transferase

Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors

2017 ◽  
Vol 42 ◽  
pp. 54-60 ◽  
Author(s):  
Thais Lampert Monte ◽  
Fernanda Santos Pereira ◽  
Estela da Rosa Reckziegel ◽  
Marina Coutinho Augustin ◽  
Lucas Dorídio Locks-Coelho ◽  
...  
Keyword(s):  
Risk Factors ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2

scholarly journals Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

2016 ◽  
Vol 16 (1) ◽  
pp. 180-183 ◽  
Author(s):  
Adele G. Marthaler ◽  
Benjamin Schmid ◽  
Alisa Tubsuwan ◽  
Ulla B. Poulsen ◽  
Alexander F. Engelbrecht ◽  
...  
Keyword(s):  
Cell Line ◽  
Spinocerebellar Ataxia ◽  
Control Cell ◽  
Spinocerebellar Ataxia Type ◽  
Ipsc Line ◽  
Spinocerebellar Ataxia Type 2 ◽  
Control Cell Line

Spinocerebellar Ataxia Type 2 in a Turkish Family

2007 ◽  
Vol 22 (7) ◽  
pp. 891-894 ◽  
Author(s):  
Eray Dirik ◽  
Uluc Yis ◽  
Nazli Basak ◽  
Esra Soydan ◽  
Orkide Hüdaoğlu ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Turkish Family

Normal SCA2 alleles influences age at onset of spinocerebellar ataxia type 2 in Cuban patients

2008 ◽  
Vol 119 ◽  
pp. S173
Author(s):  
L.E. Almaguer Mederos ◽  
N. Falcón ◽  
Y. Almira ◽  
Y. Zaldivar ◽  
D. Almarales ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2

scholarly journals A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

2020 ◽  
Vol 43 (3) ◽  
Author(s):  
José Sánchez-Corona ◽  
Sergio Alberto Ramirez-Garcia ◽  
Gema Castañeda-Cisneros ◽  
Susan Andrea Gutiérrez-Rubio ◽  
Víctor Volpini ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Report ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Repeat Expansion ◽  
Mexican Child

scholarly journals Genetic Rhabdomyolysis within the Spectrum of the Spinocerebellar Ataxia Type 2 Responsive to Pregabalin

2021 ◽  
Author(s):  
Fabian Rossi ◽  
Joe Ma ◽  
Nina Tsakadze ◽  
Lourdes Benes-Lima ◽  
Julio Araque Gonzalez ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Clinical Presentation ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset ◽  
Spinocerebellar Ataxia Type 2 ◽  
First Report ◽  
Recurrent Rhabdomyolysis

Abstract BackgroundSpinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. Case presentationWe describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin. ConclusionThis is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin.

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