Benign hereditary chorea (BHC)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Benign hereditary chorea (BHC). This is caused by mutations in the TITF-1 (NKX2-1) and ADCY5 genes. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the TITF-1 (NKX2-1) and ADCY5 genes
- The transmission is autosomal dominant
- The onset is in infancy or childhood
Movement disorders
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Other neurological features
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Brain-Thyroid-Lung syndrome
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Associated features
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Differential diagnosis
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Treatment
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References
- Gras D, Jonard L, Roze E, et al. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. JNNP 2012; 83:956-962.
- Asmus F, Horber V, Pohlenz J, et al. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 2005; 64:1952-1954.
- Armstrong MJ, Shah BB, Chen R, Angel MJ, Lang AE. Expanding the phenomenology of benign hereditary chorea: evolution from chorea to myoclonus and dystonia. Mov Disord 2011; 26:2296-2297.
- Raj Kumar K, Fung VS. ADCY5 identified as a novel cause of benign hereditary chorea. Mov Disord 2015; 30:1726.
- Mencacci NE, Erro R, Wiethoff S, et al. ADCY5 mutations are another cause of benign hereditary chorea. Neurology 2015; 85:80-88.
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