BMC Neurol 2020 May 25;20(1):207. Epub 2020 May 25.
Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC: 03, P.O. Box 3354, Riyadh, 11211, Kingdom of Saudi Arabia.
Background: Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical, neurophysiologic, neuroimaging, and genetic findings in a second unrelated Saudi family with two affected children harboring identical homozygous frameshift mutation in the gene. It also explores and documents an ancient founder cerebellar ataxia mutation in the Arabian Peninsula. Read More