RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement

• Published in: European journal of neurology Vol. 29; no. 1; pp. 345 - 349
• Main Authors: Van Daele, Sien H., Moisse, Matthieu, Race, Valérie, Van Eesbeeck, Amélie, Keldermans, Liesbeth, Vermeer, Sascha, Van Esch, Hilde, Claeys, Kristl G., Van Damme, Philip
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.01.2022; John Wiley and Sons Inc
• Subjects: Abnormalities; Ataxia; Ataxia - genetics; case study; Disorders; Genes; Genetic screening; Genotype & phenotype; Genotypes; genotype−phenotype correlation; Hereditary spastic paraplegia; Humans; medical genetics; Mutation; Mutation - genetics; Neurogtics; Neuromuscular diseases; Neuropathy; Panels; Paraplegics; Patients; Pedigree; Phenotype; Phenotypes; Retrospective Studies; sensory ataxia; Short Communication; spastic paraparesis; Spastic Paraplegia, Hereditary - genetics; Spasticity; Ubiquitin-Protein Ligases - genetics; spastic paraparesis; genotype−phenotype correlation; sensory ataxia; medical genetics; case study

Background Although hereditary ataxias are a group of clinically and genetically heterogeneous disorders, specific clinical clues can sometimes incriminate certain genes. This can trigger genetic testing in sporadic patients or prompt dissecting certain genes more thoroughly when initial genetic tes...