Benign hereditary chorea
| Benign hereditary chorea (BHC) | |
|---|---|
| Classification and external resources | |
| Synonyms | Benign familial chorea |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 118700 |
| Patient UK | Benign hereditary chorea |
| GeneReviews | |
| Orphanet | 1429 |
Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents in childhood with isolated chorea. Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases.[1]
BHC is caused by a single-nucleotide insertion mutation in TITF1, which encodes thyroid transcription factor 1 (TTF-1). This gene is also known as NK2 homeobox 1 (NKX2-1)[1]
In some cases, additional developmental abnormalities of lung and thyroid tissue are found in BHC, leading to the suggested alternative name brain-lung-thyroid syndrome.[2]
See also
References
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