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Gras and colleagues present the results of an interesting and accurate study on the clinical phenomenology and long-term prognosis of a large series of 28 patients with genetically confirmed benign hereditary chorea (BHC).1 BHC is a rare genetic condition with an autosomal dominant pattern of inheritance. The defects have been identified in mutations affecting the TIFT1 gene (now named NKX2-1), which encodes the thyroid transcription factor 1, while the clinical phenotype has traditionally been defined by the triad of chorea, hypothyroidism and lung disease (‘brain-thyroid-lung syndrome’). Specifically, the clinical picture of BHC has long been thought to be …
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