脊髓小脑共济失调、低促性腺激素性性腺功能减退和脉络膜营养不良（布歇-诺伊豪泽综合征）。

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome).

作者信息

Limber E R, Bresnick G H, Lebovitz R M, Appen R E, Gilbert-Barness E F, Pauli R M

机构信息

Department of Medical Genetics, University of Wisconsin, Madison.

出版信息

Am J Med Genet. 1989 Jul;33(3):409-14. doi: 10.1002/ajmg.1320330325.

DOI:10.1002/ajmg.1320330325

PMID:2801777

Abstract

We describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. Review of the literature adds one other family with this disorder. These three examples confirm the existence of this traid as a specific, pleiotropic, single-gene syndrome. Careful ophthalmologic evaluation of patients with ataxia and hypogonadotropic hypogonadism may identify additional cases.

摘要

我们描述了两个家族（包括一个先前报道过的家族），其中常染色体隐性基因功能异常导致小脑性或脊髓小脑性共济失调、低促性腺激素性性腺功能减退和脉络膜营养不良。文献回顾又增加了一个患有这种疾病的家族。这三个例子证实了这种三联征作为一种特定的、多效性的单基因综合征的存在。对共济失调和低促性腺激素性性腺功能减退患者进行仔细的眼科评估可能会发现更多病例。