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Familial cerebellar ataxia with hypogonadism.

作者信息

Lowenthal A, Bekaert J, Van Dessel F, van Hauwaert J

出版信息

J Neurol. 1979;222(2):75-80. doi: 10.1007/BF00313001.

DOI:10.1007/BF00313001
PMID:93634
Abstract

A brother and sister with congenital cerebellar ataxia, anosmia, oligophrenia, hypogonadism and anomalies of amino acid distribution are reported. Ties between the different symptoms are difficult to establish. It seems to be a new syndrome rather than a new disease. Once more these associations emphasize the need for metabolic and biochemical research in heredodegenerative diseases. The evolution of the disease in these cases might make it possible to classify and locate it more accurately.

摘要

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引用本文的文献

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N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8.
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Hypogonadism and neurological diseases.性腺功能减退症与神经疾病。
Neurol Sci. 2013 May;34(5):629-38. doi: 10.1007/s10072-012-1278-4. Epub 2013 Jan 5.
3
Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.两名患有脉络膜视网膜营养不良、低促性腺激素性性腺功能减退和小脑共济失调的同胞:布歇-诺伊豪泽综合征。

本文引用的文献

1
Seminiferous tubule dysgenesis (Klinefelter's syndrome) associated with familiar cerebellar ataxia.
J Clin Endocrinol Metab. 1960 Aug;20:1184-90. doi: 10.1210/jcem-20-8-1184.
2
FAMILIAL CEREBELLAR ATAXIA AND HYPOGONADISM.家族性小脑共济失调和性腺功能减退
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3
Familial hypogonadotrophic eunuchoidism with cerebellar ataxia.伴有小脑共济失调的家族性低促性腺激素性类无睾症。
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5
Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency.家族性小脑共济失调和低促性腺激素性性腺功能减退:下丘脑促黄体生成素释放激素缺乏的证据。
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Familial spastic paraplegia with Kallmann's syndrome.伴有卡尔曼综合征的家族性痉挛性截瘫
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Pallido-cerebello-olivary degeneration with eunuchoidism.伴有类无睾症的苍白球-小脑-橄榄体变性
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Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?
Clin Genet. 1976 Feb;9(2):234-44. doi: 10.1111/j.1399-0004.1976.tb01570.x.
6
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.一种表现为小脑共济失调的新型青少年己糖胺酶缺乏症。临床与生化研究。
Neurology. 1977 Nov;27(11):1012-8. doi: 10.1212/wnl.27.11.1012.