Article
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Brain : a journal of neurology - 1 Sept 2018
Eidhof Ilse, Baets Jonathan, Kamsteeg Erik-Jan, Deconinck Tine, van Ninhuijs Lisa, Martin Jean-Jacques, Schüle Rebecca, Züchner Stephan, De Jonghe Peter, Schenck Annette, van de Warrenburg Bart P
Abstract excerpt
Autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as the main hallmark. Here, we report two unrelated patients with a new subtype of autosomal recessive cerebellar ataxia caused by biallelic, gene-disruptive mutations in GDAP2, a gene previously not implicated in disease. Both patients had onset of ataxia in the fourth...
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