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

Tremor and Other Hyperkinetic Movements

article

Laurence Gauquelin¹  Luan T. Tran¹  Sylvain Chouinard⁵  Geneviève Bernard¹ 

[1] Department of Neurology and Neurosurgery, Montreal Children’s Hospital, McGill University Health Centre;Department of Pediatrics, Montreal Children’s Hospital, McGill University Health Centre;Child Health and Human Development Program, Research Institute of the McGill University Health Centre;Department of Medical Genetics, Montreal Children’s Hospital, McGill University Health Centre;Centre Hospitalier Universitaire de Montréal (CHUM)-Notre-Dame, André Barbeau Movement Disorders Unit

关键词: Chorea;    brain-lung-thyroid syndrome;    NKX2-1-related disorder;    psychostimulant;    methylphenidate;   

DOI  :  10.5334/tohm.372

学科分类：社会科学、人文和艺术（综合）

来源: Ubiquity Press

【 摘 要 】

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.

【 授权许可】

CC BY