Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by Mutations.

BACKGROUND

Since its localization to the gene in 2002, the phenotype of the disorder historically called "benign hereditary chorea" has been expanding beyond chorea.

METHODS

The phenomenology of movement disorders and other symptomatology associated with mutations in were characterized after a detailed evaluation of consecutive patients evaluated in our clinic over the past 3 years.

RESULTS

We studied 5 patients (3 females), ages 2 to 31 years, with confirmed pathogenic variants in All patients exhibited chorea, gross motor delay, and gait impairment. Other symptoms included neonatal respiratory failure (n = 4), cognitive deficits (n = 3), hypothyroidism (n = 4), joint laxity (n = 2), myoclonus (n = 1), hypotonia (n = 3), and seizures (n = 1). Chorea often proved refractory to medical therapies.

CONCLUSIONS

The phenotype associated with pathogenic variants in frequently includes disabling and often medically refractory neurological and non-neurological abnormalities. We therefore suggest that the term benign hereditary chorea be abandoned in favor of its genetic designation as -related disorder.