Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.

Abstract excerpt

Benign hereditary chorea (BHC) is an inherited neurological disorder consisting of childhood-onset, nonprogressive chorea, generally without any other manifestations. In most reported cases, the inheritance of BHC is autosomal dominant but both incomplete penetrance and variable expressivity are observed and can be caused by NKX2-1 mutations. The spectrum contains choreoathetosis, congenital hypothyroidism, and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chorea
• Share to Congenital Hypothyroidism