Ontology highlight
ABSTRACT:
SUBMITTER: Sjors H.W. Scheres
PROVIDER: EMPIAR-10340 | biostudies-other |
REPOSITORIES: biostudies-other
Zhang Wenjuan W Tarutani Airi A Newell Kathy L KL Murzin Alexey G AG Matsubara Tomoyasu T Falcon Benjamin B Vidal Ruben R Garringer Holly J HJ Shi Yang Y Ikeuchi Takeshi T Murayama Shigeo S Ghetti Bernardino B Hasegawa Masato M Goedert Michel M Scheres Sjors H W SHW
Nature 20200212 7802
Corticobasal degeneration (CBD) is a neurodegenerative tauopathy-a class of disorders in which the tau protein forms insoluble inclusions in the brain-that is characterized by motor and cognitive disturbances<sup>1-3</sup>. The H1 haplotype of MAPT (the tau gene) is present in cases of CBD at a higher frequency than in controls<sup>4,5</sup>, and genome-wide association studies have identified additional risk factors<sup>6</sup>. By histology, astrocytic plaques are diagnostic of CBD<sup>7,8</su ...[more]