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

✍ Scribed by Limber, Ellen R. ;Bresnick, George H. ;Lebovitz, Ruth M. ;Appen, Richard E. ;Gilbert-Barness, Enid F. ;Pauli, Richard M.

Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 846 KB
Volume: 33
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320330325

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✦ Synopsis

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 triad as a specific, pleiotropic, single-gene syndrome. Careful ophthalmologic evaluation of patients with ataxia and hypogonadotropic hypogonadism may identify additional cases.

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