Year: 2018
Type: editorial
Abstract: In this issue, Tojima et al.1 describe the occurrence of a progressive cerebellar ataxia of 1-year duration in an 81-year-old Japanese woman that was associated with the presence of 31 DNA CAG repeats in the ATXN2 gene. The pathologic threshold for disease causing spinocerebellar ataxia type 2 (SCA2) is usually considered to be 33 repeats and above, whereas 31 repeats would not be considered to be causative for cerebellar neurodegeneration. The twist in this case report is the fact that the patient carried 2 alleles with 31 repeats, suggesting that the 31-CAG repeat allele acted in a recessive fashion. The author thank Daniel Scoles, PhD for critical reading of the manuscript and suggestions.
Source: Neurology Genetics
Author: Stefan M. Pulst
Institution: University of Utah
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,300
OpenAlex ID: W2902914848