( CAG ) n loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China

2019 ◽  
Vol 26 (8) ◽  
pp. 1130-1136 ◽  
Author(s):  
P. Wang ◽  
Z. Chen ◽  
Y. Peng ◽  
L. Cao ◽  
X. Li ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Mainland China ◽  
Spinocerebellar Ataxia Type ◽  
Genetic Modifiers ◽  
Spinocerebellar Ataxia Type 1

scholarly journals Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signalled to DNA damage by Ataxia Telangiectasia Mutated kinase

2019 ◽  
Author(s):  
Celeste E. Suart ◽  
Alma M. Perez ◽  
Ismael Al-Ramahi ◽  
Tamara Maiuri ◽  
Juan Botas ◽  
...  
Keyword(s):  
Dna Damage ◽  
Spinocerebellar Ataxia ◽  
Ataxia Telangiectasia ◽  
Neurodegenerative Disorder ◽  
Age At Onset ◽  
Spinocerebellar Ataxia Type ◽  
Ataxia Telangiectasia Mutated ◽  
Spinocerebellar Ataxia Type 1 ◽  
Polyglutamine Expansion

ABSTRACTSpinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by a polyglutamine expansion in the ataxin-1 protein. Recent genetic correlational studies have implicated DNA damage repair pathways in modifying the age at onset of disease symptoms in SCA1 and Huntington’s Disease, another polyglutamine expansion disease. We demonstrate that both endogenous and transfected ataxin-1 localizes to sites of DNA damage, which is impaired by polyglutamine expansion. This response is dependent on ataxia telangiectasia mutated (ATM) kinase activity. Further, we characterize an ATM phosphorylation motif within ataxin-1 at serine 188. We show reduction of the Drosophila ATM homolog levels in a ATXN1[82Q] Drosophila model through shRNA or genetic cross ameliorates motor symptoms. These findings offer a possible explanation as to why DNA repair was implicated in SCA1 pathogenesis by past studies. The similarities between the ataxin-1 and the huntingtin responses to DNA damage provide further support for a shared pathogenic mechanism for polyglutamine expansion diseases.

scholarly journals Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

2014 ◽  
Vol 51 (7) ◽  
pp. 479-486 ◽  
Author(s):  
Sophie Tezenas du Montcel ◽  
Alexandra Durr ◽  
Maria Rakowicz ◽  
Lorenzo Nanetti ◽  
Perrine Charles ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 1

Striatal dopamine nerve terminal markers but not nigral cellularity are reduced in spinocerebellar ataxia type 1

Neurology ◽  
1997 ◽  
Vol 48 (4) ◽  
pp. 1109-1111 ◽  
Author(s):  
S. J. Kish ◽  
M. Guttman ◽  
Y. Robitaille ◽  
M. El-Awar ◽  
L. -J. Chang ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Nerve Terminal ◽  
Striatal Dopamine ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 1

Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes

1995 ◽  
Vol 4 (9) ◽  
pp. 1585-1590 ◽  
Author(s):  
David C. Rubinsztein ◽  
Jayne Leggo ◽  
Gerhard A. Coetzee ◽  
Ryan A. Irvine ◽  
Michael Buckley ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Spinocerebellar Ataxia ◽  
Sequence Variation ◽  
Cag Repeats ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 1 ◽  
Machado Joseph Disease

P124 Spinocerebellar ataxia type 1 – case report

2008 ◽  
Vol 119 ◽  
pp. S102-S103
Author(s):  
Svetlana Kostic ◽  
Dusko Vranjes ◽  
Velimir Dedic ◽  
Jagoda Potic
Keyword(s):  
Case Report ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 1

Maculopathy and Spinocerebellar Ataxia Type 1

2013 ◽  
Vol 33 (3) ◽  
pp. 225-231 ◽  
Author(s):  
Pierre Lebranchu ◽  
Guylène Le Meur ◽  
Armelle Magot ◽  
Albert David ◽  
Christophe Verny ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 1
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