Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.

ABSTRACT: Benign hereditary chorea (BHC) is a rare genetically heterogeneous movement disorder, in which conventional neuroimaging has been reported as normal in most cases. Cystic pituitary abnormalities and features of empty sella have been described in only 7 patients with BHC to date. We present 4 patients from 2 families with a BHC phenotype, 3 of whom underwent targeted pituitary MR imaging and genetic testing. All four patients in the two families displayed a classic BHC phenotype. The targeted pituitary MR imaging demonstrated abnormal pituitary sella morphology. Genetic testing was performed in three patients, and showed mutations causing BHC in three of the patients, as well as identifying a novel nonsense mutation of the TITF1/NKX2-1 gene in one of the patients. The presence of the abnorm

SUBMITTER: Thust S 

PROVIDER: S-EPMC8960566 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature