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Article

Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation.

Journal of neurology - 1 Jan 2013

Konishi Takashi, Kono Satoshi, Fujimoto Masaya, Terada Tatsuhiro, Matsushita Kozo, Ouchi Yasuomi, Miyajima Hiroaki

Abstract excerpt

Mutations in the NKX2.1 gene, which is essential for the development, differentiation and organization of the basal ganglia, cause benign hereditary chorea (BHC) characterized by childhood-onset non-progressive chorea. We herein report the clinical features of six patients from a single family with a novel intronic mutation and present the dopaminergic neuronal imaging by using positron emission tomography (PET)...

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PMID: 22825795
DOI: 10.1007/s00415-012-6618-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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