Academic Commons

Articles

The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate

Gauquelin, Laurence; Tran, Luan T.; Chouinard, Sylvain; Bernard, Genevieve

Benign hereditary chorea is a rare disorder characterized by childhoodonset, non-progressive chorea, with or without associated respiratory and thyroid dysfunction.1 It is referred to as ‘‘brain-lung-thyroid’’ syndrome when all three systems are involved.2 It is caused by autosomal dominant mutations in the NKX2-1 gene (previously TITF-1), on chromosome 14.3 It is a genetically heterogeneous condition, with over 30 different causative mutations identified.4 Other neurological manifestations of benign hereditary chorea and NKX2-1-related disorders include dystonia, myoclonus, tics, tremor, dysarthria, ataxia, hypotonia, and motor developmental delay. Neuropsychiatric symptoms such as attention deficit hyperactivity disorder (ADHD), have also been reported.1,5 Pharmacologic treatment of chorea and other abnormal movements in NKX2-1-related disorders has been disappointing. It typically involves levodopa or tetrabenazine; however, side effects are often limiting.5 We report and illustrate the case of a young female patient with brain-lung-thyroid syndrome and an immediate improvement of her involuntary movements with methylphenidate (Video 1).

Files

Also Published In

Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D84X5M9Z

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
November 30, 2017
Academic Commons provides global access to research and scholarship produced at Columbia University, Barnard College, Teachers College, Union Theological Seminary and Jewish Theological Seminary. Academic Commons is managed by the Columbia University Libraries.