Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 1 of 1
Full-Text Articles in Neurology
A Chromosomal Deletion And New Frameshift Mutation Cause Arsacs In An African-American, Sean C. Dougherty, Amy Harper, Hind Al Saif, Gregory Vorona, Scott R. Haines
A Chromosomal Deletion And New Frameshift Mutation Cause Arsacs In An African-American, Sean C. Dougherty, Amy Harper, Hind Al Saif, Gregory Vorona, Scott R. Haines
Neurology Publications
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, progressive, neurodegenerative disease characterized by ataxia, spasticity and polyneuropathy. First described in the French-Canadian population of Quebec in 1978, ARSACS has since been identified in multiple patients worldwide. In this clinical case report, we describe the evaluation of an 11-years-old African-American male who presented to neuromuscular clinic for assessment of a gait abnormality. He had a history of gross motor delay since early childhood, frequent falls and a below average IQ. Chromosomal microarray revealed a 1.422 megabase loss in the 13q12.12 region, which includes the SACS gene. Next Generation Sequencing …