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Updated: Jul 28, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
1Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tuebingen, Germany. friedrich.asmus@uni-tuebingen.de
Neurology
|June 16, 2005
Summary
Infancy-onset benign hereditary chorea (BHC) linked to a new TITF-1 gene mutation also caused hypothyroidism. Levodopa treatment surprisingly improved movement and gait in affected patients, suggesting a new therapeutic avenue.
Area of Science:
- Genetics
- Neurology
- Endocrinology
Background:
- Benign hereditary chorea (BHC) is a rare movement disorder.
- Genetic mutations in the TITF-1 (Nkx2.1) gene are associated with BHC and thyroid dysfunction.
Observation:
- A novel nonsense mutation (E175X) in the TITF-1 gene was identified in a family with infancy-onset BHC.
- Affected individuals presented with chorea and congenital hypothyroidism.
Findings:
- Four mutation carriers exhibited typical BHC symptoms and hypothyroidism.
- Two patients showed significant improvement in gait and chorea after levodopa treatment.
Implications:
- This study identifies a new mutation causing BHC and associated hypothyroidism.
- Levodopa may be a viable therapeutic option for managing movement disorders in BHC.
- Further research into dopaminergic pathways in BHC is warranted.
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