期刊
MOVEMENT DISORDERS
卷 22, 期 16, 页码 2297-2305出版社
WILEY-LISS
DOI: 10.1002/mds.21644
关键词
benign hereditary chorea (BHC); TITF-1; review; brain-thyroid-lung syndrome
Benign hereditary chorea (BHC) has been characterized as an autosomal dominant disorder manifesting nonprogressive chorea without dementia. However, there has been controversy regarding its existence. Diagnosis has been based solely on clinical criteria with many patients and families demonstrating atypical features and until recently, no diagnostic test was available for confirmation. Since 2002, mutations in the thyroid transcription factor (TITF-1) gene have been identified as resulting in some cases of BHC. Additionally, the clinical spectrum has expanded to include abnormalities in thyroid and lung with the putative mechanism of disease resulting from gene haploinsufficiency and reduced protein product. This review summarizes both a historical perspective and our current understanding of BHC. (c) 2007 Movement Disorder Society
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