title: [Genetic background of corticobasal syndrome].
abstract: Corticobasal syndrome (CBS) is associated with different pathologies including FTLD-tau (corticobasal degeneration; CBD, progressive supranuclear palsy, and Pick disease), FTLD-TDP, Alzheimer disease, Creutzfeldt-Jakob disease, and Parkinson disease/dementia with Lewy bodies. Genetic causes of CBS are also various reflecting diverse pathology. In familial and sporadic FTLD, MAPT, GRN and C9ORF72 mutations are three major causes of the disease. A part of patients harboring these mutations could exhibit CBS. In addition, the patients with TARDBP, FUS, LRRK2 or CSF1R mutations also have potential to exhibit CBS. In sporadic cases, H1 haplotype of MAPT is known to be associated with FTLD-tau, including CBS/CBD. Despite major advances in recent years, the majority of familial and sporadic CBS cases are genetically unsolved. In particular, little is known about both familial and sporadic cases of CBS in Japanese. Further studies are needed to unveil the genetic background of CBS.
authors.affiliation: Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Graduate School of Medicine.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Tanaka
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics; D044466:Asian People; D001480:Basal Ganglia Diseases / Q000235:genetics*; D000073885:C9orf72 Protein; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D020961:Lewy Body Disease / Q000235:genetics; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics; D020774:Pick Disease of the Brain / Q000235:genetics; D000077153:Progranulins; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011506:Proteins / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics; D013494:Supranuclear Palsy, Progressive / Q000235:genetics; D013577:Syndrome; D016875:tau Proteins / Q000235:genetics
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D011506:Proteins; D034702:RNA-Binding Protein FUS; D016875:tau Proteins; C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases