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Is Benign Hereditary Chorea Really Benign? Brain‐Lung‐Thyroid Syndrome Caused by NKX2‐1 Mutations
Author(s) -
Parnes Mered,
Bashir Hassaan,
Jankovic Joseph
Publication year - 2019
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12690
Subject(s) - chorea , hypotonia , medicine , pediatrics , movement disorders , dystonia , choreiform movement , psychiatry , disease , parkinson's disease , dyskinesia
Background Since its localization to the NKX2‐1 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 NKX2‐1 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 NKX2‐1. 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 NKX2‐1 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 NKX2‐1 –related disorder.