Benign hereditary chorea revisited: a journey to understanding.
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.
Kleiner-Fisman
Galit
G
Morton and Gloria Shulman Movement Disorders Center, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada. kleinerfisman@yahoo.com
Lang
Anthony E
AE
D017668:Age of Onset; D000818:Animals; D001921:Brain / Q000473:pathology; D002819:Chorea / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000523:psychology / Q000628:therapy*; D003071:Cognition / Q000502:physiology; D003937:Diagnosis, Differential; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009687:Nuclear Proteins / Q000235:genetics; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics
D009687:Nuclear Proteins; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors