A Benchmark Study on the Correlation of CAG Trinucleotide Repeat Length with SARA Score, Age of Onset and Disease Duration of Genetically-positive Spinocerebellar Ataxia 2 Filipino Family

Uematsu Eri,Diesta Cid Czarina,Matibag Jessica Leika R

doi:10.23937/2643-4539/1710015

Abstract

A Benchmark Study on the Correlation of CAG Trinucleotide Repeat Length with SARA Score, Age of Onset and Disease Duration of Genetically-positive Spinocerebellar Ataxia 2 Filipino Family

Highlights

IntroductionSpinocerebellar ataxia (SCA) is a neurodegenerative disorder associated with trinucleotide repeat mutations and sharing a complex neurological presentation of an ataxia of adult onset and an autosomal dominant inheritance [1,2,3,4,5]
Disease duration and Scale for Assessment and Rating of Ataxia (SARA) scores did not show any significant correlational analysis with CAG trinucleotide repeat lengths. This is the first study on spinocerebellar ataxia 2 in a Filipino family with 10 genetically-confirmed individuals exploring the genotype and phenotype characteristics
The findings of this study confirmed the complex symptomatology of spinocerebellar ataxia 2

Summary

Introduction

Spinocerebellar ataxia (SCA) is a neurodegenerative disorder associated with trinucleotide repeat mutations and sharing a complex neurological presentation of an ataxia of adult onset and an autosomal dominant inheritance [1,2,3,4,5]. As with variable presentation of this disease, there is still no definite treatment for SCA2 [10,11]. There is no available data regarding the prevalence or incidence of SCA2 in the Philippines nor studies involving this disease in a Filipi-. Spinocerebellar ataxia 2 is a rare neurodegenerative disease characterized by a complex neurological presentation of ataxia of adult onset with an autosomal dominant inheritance caused by an abnormal expansion of trinucleotide CAG repeat

Results

Discussion

Conclusion