Meszaros K, Brücke T, Fuchs K, Gerhard E, Sieghart W, vanDer Meer C H, Aschauer H N
Psychiatr Genet. 1996 Summer;6(2):91-4. doi: 10.1097/00041444-199622000-00010.
Benign familial chorea (BFC) is a rare neurological disease with an autosomal dominant transmission. The disorder is characterized by its early onset in childhood, a non-progressive course of choreatic movements and the absence of intellectual impairment. There is one study describing an expanded (CAG)n repeat in the gene IT15 (Huntington) on chromosome 4p (causative for Huntington's chorea) in a family reported to have BFC that was diagnosed on the basis of onset and non-progressive course. We failed to find an expansion of the (CAG)n repeats in an Austrian family having BFC. The three affected individuals of the family had 18-25 CAG repeats. These results indicate that the diagnostic criteria for BFC should include a normal result in the analysis of the (CAG)n repeat region of the Huntington gene.
良性家族性舞蹈症（BFC）是一种罕见的常染色体显性遗传的神经系统疾病。该病症的特点是在儿童期早期发病，舞蹈样动作呈非进行性病程，且无智力障碍。有一项研究描述了一个据报道患有BFC的家族中，4号染色体p臂上的IT15基因（亨廷顿基因）中（CAG）n重复序列扩增（该基因是亨廷顿舞蹈症的致病基因），该家族是根据发病情况和非进行性病程被诊断为BFC的。我们在一个患有BFC的奥地利家族中未能发现（CAG）n重复序列的扩增。该家族的三名患病个体有18 - 25个CAG重复序列。这些结果表明，BFC的诊断标准应包括亨廷顿基因（CAG）n重复区域分析结果正常。
