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Article

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

Neurogenetics - 1 Apr 2022

Thust Steffi, Veneziano Liana, Parkinson Michael H, Bhatia Kailash P, Mantuano Elide, Gonzalez-Robles Cristina, Davagnanam Indran, Giunti Paola

Abstract excerpt

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...

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Identifiers

PMID: 35079915
DOI: 10.1007/s10048-021-00680-3
PMCID: PMC8960566

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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