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Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?
Author(s) -
Skre Håvard,
Bassöe Hans H.,
Berg Kåre,
Frövig Arne G.
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb01570.x
Subject(s) - hypergonadotropic hypogonadism , genetic linkage , genetics , ataxia , consanguinity , human genetics , medicine , spinocerebellar ataxia , biology , endocrinology , pediatrics , psychiatry , gene , hormone
Two kindreds with Marinesco‐Sjögren's syndrome in three sibships are described. In five of the six affected, but in none of the unaffected sibs, a hyper gonadotropic hypogonadism was observed. In one of the kindreds a high degree of inbreeding was revealed, and inbreeding likely also existed in the other kindred. The two families were not related. Marinesco‐Sjögren's syndrome is known to be a distinct clinical entity, governed by autosomal recessive inheritance, and this also applies to hypergonadotropic hypogonadism. Several heredo‐degenerative nervous disorders are accompanied by a hypo gonadotropic hypogonadism, which is believed to be secondary to the neurological disorder, as in traumatic paraplegia. A hyper gonadotropic hypogonadism cannot readily be explained in this way. We consider genetic linkage between two independent disorders as the most likely explanation for the observed concurrence.

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