CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study

1998 ◽  
Vol 40 (3) ◽  
pp. 164-168 ◽  
Author(s):  
Alessandro Malandrini ◽  
Lucia Galli ◽  
Marcello Villanova ◽  
Silvia Palmeri ◽  
Emma Parrotta ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Genetic Study ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Repeat Expansion ◽  
Italian Family

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 Polyglutamine-expanded ataxin-3: a target engagement marker for Spinocerebellar ataxia type 3 in peripheral blood

2021 ◽  
Author(s):  
Jeannette Huebener-Schmid ◽  
Kirsten Kuhlbrodt ◽  
Julien Peladan ◽  
Jennifer Faber ◽  
Magda M Santana ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Parameters ◽  
Target Engagement ◽  
Spinocerebellar Ataxia Type 3 ◽  
Curative Therapy ◽  
Cag Repeat Expansion ◽  
Type 3

Abstract Spinocerebellar ataxia type 3 is a rare neurodegenerative disease, caused by a CAG repeat expansion leading to polyglutamine elongation in the ataxin-3 protein. While no curative therapy is yet available, preclinical gene silencing approaches to reduce polyglutamine-toxicity demonstrate promising results. In view of upcoming clinical trials, quantitative and easily accessible molecular markers are of critical importance as pharmacodynamic and particularly as target engagement markers. We developed a novel ultrasensitive immunoassay to measure specifically polyQ-expanded ataxin-3 in plasma and cerebrospinal fluid. Statistical analyses revealed a correlation with clinical parameters and a stability of polyglutamine-expanded ataxin-3 during conversion from the pre-ataxic to the ataxic phase.

scholarly journals Massive CAG Repeat Expansion and Somatic Instability in Maternally Transmitted Infantile Spinocerebellar Ataxia Type 7

2015 ◽  
Vol 72 (2) ◽  
pp. 219 ◽  
Author(s):  
Heather Trang ◽  
Sabrina Y. Stanley ◽  
Paul Thorner ◽  
Hannaneh Faghfoury ◽  
Andreas Schulze ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Somatic Instability ◽  
Cag Repeat Expansion ◽  
Spinocerebellar Ataxia Type 7

scholarly journals Genetic analysis of age at onset variation in spinocerebellar ataxia type 2

2017 ◽  
Vol 3 (3) ◽  
pp. e155 ◽  
Author(s):  
K.P. Figueroa ◽  
Hilary Coon ◽  
Nieves Santos ◽  
Luis Velazquez ◽  
Luis Almaguer Mederos ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Repeat Length ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Entire Sample ◽  
Sib Pairs ◽  
Parent Child

Objective:To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length.Methods:From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure. Because all relationships were first degree, the model was implemented with an exchangeable correlation matrix. Familial correlations were estimated using the Pedigree Analysis Package to control for similarity due to genetic relatedness.Results:For the entire sample, the mutant CAG repeat allele explained 69% of AO variance. When adjusted for pedigree structure, this decreased to 50%. Evidence for imprinting or sex-specific effects of the CAG repeat on AO was not found. For the entire sample, we determined an upper bound for heritability of the residual variance of 33% (p = 0.008). Heritability was higher in sib-sib pairs, especially in female sib-sib pairs, than in parent-child pairs.Conclusions:We established that a large proportion of AO variance in SCA2 was determined by genetic modifiers in addition to CAG repeat length. The genetic structure of heritability of the residual AO variance was surprisingly similar to Huntington disease, suggesting the presence of recessive modifying alleles and possibly X-chromosome–linked modifiers.

Intergenerational CAG repeat instability and mutational flow in Cuban families with spinocerebellar ataxia type 2

2013 ◽  
Vol 333 ◽  
pp. e124-e125
Author(s):  
L. Almaguer Mederos ◽  
J. Laffita Mesa ◽  
Y. González Zaldivar ◽  
D. Cuello Almarales ◽  
D. Almaguer Gotay ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Repeat Instability
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