Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) - Seidahmed, Mohammed Z.; Hamad, Muddathir H.; AlBakheet, Albandary; Elmalik, Salah A.; AlDrees, Abdulmajeed; Al-Sufayan, Jumanah; Alorainy, Ibrahim; Ghozzi, Ibrahim M.; Colak, Dilek; Salih, Mustafa A.; Kaya, Namik (BMC neurology, 2020)
Keywords: Adolescent; Age; Arrays; Ataxia; Atrophy; Autophagy-Related Proteins - genetics; Brain mapping; Case Report; Cerebellar ataxia; Cerebellum; Cerebellum - diagnostic imaging; Child; Chromosome 3; Cognitive ability; Cognitive Dysfunction; Deoxyribonucleic acid; DNA; Dysarthria; Families & family life; Founder mutation; Frameshift mutation; Frameshift Mutation - genetics; Gait; Gait Ataxia; Gene mapping; Genetic aspects; Genetic research; Genotype & phenotype; Humans; Intellectual disabilities; Intelligence; Magnetic Resonance Imaging; Male; Medical research; Mutation; Nerve conduction; Neuroimaging; Neurophysiology; Patients; Phenotypes; Reflexes; RUBCN; Saccadic eye movements; Salih ataxia; SCAR15; Spinocerebellar Ataxias - diagnosis; Spinocerebellar Ataxias - genetics; Walking; Saudi Arabia; Salih ataxia; RUBCN; Founder mutation; SCAR15