Familial aggregation of psychotic symptoms in Huntington's disease.
Familial aggregation of psychotic symptoms in Huntington's disease.
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亨廷顿病精神病症状的家族聚集。
DOI：
10.1176/appi.ajp.157.12.1955
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发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Bird,TD
中科院分区：
文献类型：
--
作者：
Tsuang,D;Almqvist,EW;Lipe,H;Strgar,F;DiGiacomo,L;Hoff,D;Eugenio,C;Hayden,MR;Bird,TD
导致亨廷顿病的突变是4号染色体短臂上一个延长的不稳定的三核苷酸（CAG）重复序列。精神病症状在亨廷顿病患者中比在一般人群中更常见。本研究探讨了亨廷顿病患者的精神病与CAG重复次数和精神病家族史的关系。方法从西雅图和温哥华的两所大学附属医学遗传学诊所招募了44名亨廷顿病患者，其中22名有精神病症状，22名无精神病症状。并通过对一部分患者进行结构化访谈来验证诊断。比较了精神病和非精神病患者的人口统计学和临床特征，除了精神病患者比非精神病患者有一级亲属患精神病的可能性更大之外，两组在人口统计学和临床特征上没有差异。在9个家庭中，有8个亨廷顿病先证者有精神病一级亲属，亲属的精神病与亨廷顿病同时发生。在亨廷顿舞蹈病先证者与精神病，精神病的发病与发病的神经系统症状的亨廷顿舞蹈病，和发病时的精神病的年龄较低的先证者有较高数量的CAG repeats.CONCLUSIONSPatients与亨廷顿舞蹈病和精神病症状可能有家族倾向发展精神病。这一发现表明，其他遗传因素可能会影响对特定表型的易感性，该表型由亨廷顿病基因中CAG扩增引起。
OBJECTIVEThe mutation responsible for Huntington’s disease is an elongated and unstable trinucleotide (CAG) repeat on the short arm of chromosome 4. Psychotic symptoms are more common in patients with Huntington’s disease than in the general population. This study explored the relationship of psychosis in Huntington’s disease patients with the number of CAG repeats and family history of psychosis.METHODForty-four patients with Huntington’s disease, 22 with and 22 without psychotic symptoms, were recruited from two university-affiliated medical genetics clinics in Seattle and Vancouver, B.C. Psychiatric assessments of the subjects were made through chart review, and diagnoses were validated by structured interviews in a subset of patients. The demographic and clinical characteristics of the psychotic and nonpsychotic patients were compared.RESULTSThe two groups did not differ in demographic and clinical characteristics, except that subjects with psychosis were significantly more likely than nonpsychotic subjects to have a first-degree relative with psychosis. In eight of nine families in which Huntington’s disease probands with psychosis had a first-degree relative with psychosis, the relative’s psychosis co-occurred with Huntington’s disease. In the Huntington’s disease probands with psychosis, the onset of psychosis correlated with the onset of the neurological symptoms of Huntington’s disease, and the age at onset of psychosis was lower in probands with a higher number of CAG repeats.CONCLUSIONSPatients with Huntington’s disease and psychotic symptoms may have a familial predisposition to develop psychosis. This finding suggests that other genetic factors may influence susceptibility to a particular phenotype precipitated by CAG expansion in the Huntington’s disease gene.