Abstract
Investigators from the Institute of Neurology, London, UK, and centers in Italy, Germany, and Greece, studied 18 unrelated cases of benign hereditary chorea BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations.
Highlights
Benign hereditary chorea (BHC) is a dominantly inherited, childhood-onset hyperkinetic movement disorder characterized by non-progressive chorea and variable degrees of thyroid and respiratory involvement
Chorea presenting in early infancy was associated with hypotonia, delayed walking in 25 of 28, dystonia, myoclonus and tics often associated, and ADHD occurred in 7
Among 14 patients followed until adulthood, 9 had persistent mild chorea, 2 had near total resolution of chorea but persistent myoclonus; 3 recovered completely
Summary
Benign hereditary chorea (BHC) is a dominantly inherited, childhood-onset hyperkinetic movement disorder characterized by non-progressive chorea and variable degrees of thyroid and respiratory involvement. Loss-of-function mutations in NKX2-1, a gene vital to the normal development and function of the brain, lungs, and thyroid, have been identified, leading to the description of a “brain-lung-thyroid syndrome” in some cases [2]. The present report identifies mutations in ADCY5 as another cause of familial and sporadic BHC [1].
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