Benign hereditary chorea

Benign hereditary chorea (BHC)
Benign familial chorea
Classification and external resources
OMIM 118700
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

  1. 1 2 Kleiner-Fisman, G; Rogaeva, E; Halliday, W; Houle, S; Kawarai, T; Sato, C; Medeiros, H; St George-Hyslop, PH; Lang, AE (August 2003). "Benign hereditary chorea: clinical, genetic, and pathological findings.". Annals of Neurology. 54 (2): 244–7. doi:10.1002/ana.10637. PMID 12891678.
  2. ↑ Peall, KJ; Kurian, MA (2015). "Benign Hereditary Chorea: An Update.". Tremor and other hyperkinetic movements (New York, N.Y.). 5: 314. doi:10.7916/D8RJ4HM5. PMC 4502401Freely accessible. PMID 26196025.


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