The purpose of this study to describe the natural history of SCA7 in a sizeable multicentric series of children and find correlations to variables defining this natural history. Children belonged to all ages.
Twenty-eight children provided the necessary data with proven SCA7. All participants had clinical manifestations of SCA7 and either a definite number of CAG repeats in ATXN7 or a long expansion > 100 CAG.
The researchers identified four clinical presentation patterns related to age at onset. Children of all age groups who presented with cerebellar atrophy and retinal dystrophy participated in the study. This study’s findings and the existing research suggest that definite ranges of CAG repeats determine pediatric SCA7 subtypes. The researchers identified the number of CAG repeats to be inversely correlated to all variables of natural history. Age at gait ataxia onset correlated accurately to age at loss of walking ability and age at death.
The study concluded through its findings that the SCA7 in children has four presentation patterns. All four ways are roughly correlated to CAG repeats. Our depiction of the natural history of SCA7 in children may help monitor the effect of future therapeutic trials.
Reference: https://onlinelibrary.wiley.com/doi/10.1111/ene.14405
