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Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.

Cerebellum (London, England) - 1 Apr 2024

De Michele Giovanna, Maione Luigi, Cocozza Sirio, Tranfa Mario, Pane Chiara, Galatolo Daniele, De Rosa Anna, De Michele Giuseppe, Saccà Francesco, Filla Alessandro

Abstract excerpt

The association of hypogonadism and cerebellar ataxia was first recognized in 1908 by Gordon Holmes. Since the seminal description, several heterogeneous phenotypes have been reported, differing for age at onset, associated features, and gonadotropins levels. In the last decade, the genetic bases of these disorders are being progressively uncovered. Here, we review the diseases associating ataxia and hypogonadism...

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PMID: 36997834
DOI: 10.1007/s12311-023-01549-x

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