Article
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.
Brain : a journal of neurology - 1 Dec 2003
Le Ber Isabelle, Moreira Maria-Ceù, Rivaud-Péchoux Sophie, Chamayou Céline, Ochsner François, Kuntzer Thierry, Tardieu Marc, Saïd Gérard, Habert Marie-Odile, Demarquay Geneviève, Tannier Christian, Beis Jean-Marie, Brice Alexis, Koenig Michel, Dürr Alexandra
Abstract excerpt
Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine families) with five different missense or truncating...
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