Article
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).
Clinical genetics - 1 Sept 2012
Eiberg H, Hansen L, Korbo L, Nielsen I M, Svenstrup K, Bech S, Pinborg L H, Friberg L, Hjermind L E, Olsen O R, Nielsen J E
Abstract excerpt
Kufor-Rakeb syndrome (KRS) is a rare autosomal recessive inherited juvenile parkinsonian syndrome caused by mutations in ATP13A2. We describe six patients from a consanguineous Greenlandic Inuit family, homozygous for a novel frame-shift mutation in exon 22 of ATP13A2 (c.2473C>AA, p.Leu825AsnfsX32). Disease onset varied from 10 to 29 years of age, the latest reported, and the clinical features were highly...
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