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精神分裂症与戈谢病的家族性并发。

A familial concurrence of schizophrenia and Gaucher's disease.

作者信息

Mouzas Odysseas D, Siomos Konstantinos E, Angelopoulos Nikiforos V

机构信息

Department of Psychiatry, Medical School, University of Thessaly, Greece.

出版信息

Ann Gen Psychiatry. 2007 Dec 17;6:33. doi: 10.1186/1744-859X-6-33.

Abstract

BACKGROUND

Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings.

METHODS

Presentation of a family with two siblings with Gaucher's disease.

RESULTS

In a six-member family, the first son suffers from schizophrenia, while the third and fourth sons suffer from the Gaucher's disease (type 1 non-neuronopathic). The parents and the second son do not suffer from either illness.

CONCLUSION

The concurrence of schizophrenia and Gaucher's disease in the same family is an unusual phenomenon. The literature regarding this coincidence is limited, despite the fact that patients with Gaucher's disease have one or two mutated alleles, considered to be a risk factor leading to conditions such as Dementia, Parkinson's disease and schizophrenia.

摘要

背景

戈谢病(GD)是最常见的溶酶体贮积病。在此,我们描述并讨论在两名兄弟姐妹中观察到的精神分裂症与戈谢病的并发情况。

方法

介绍一个有两名患戈谢病兄弟姐妹的家庭。

结果

在一个六口之家中,长子患有精神分裂症,而三子和四子患有戈谢病(1型非神经病变型)。父母和次子均未患这两种疾病。

结论

精神分裂症与戈谢病在同一家族中的并发是一种不寻常的现象。尽管戈谢病患者有一个或两个突变等位基因,被认为是导致痴呆、帕金森病和精神分裂症等疾病的危险因素,但关于这种巧合的文献有限。

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本文引用的文献

2
Neurological signs in a juvenile form of Gaucher's disease.青少年型戈谢病的神经学体征
Acta Paediatr (Stockh). 1962 Mar;51:137-54. doi: 10.1111/j.1651-2227.1962.tb06522.x.
5
Prevalence of lysosomal storage disorders.溶酶体贮积症的患病率。
JAMA. 1999 Jan 20;281(3):249-54. doi: 10.1001/jama.281.3.249.

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