Article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Orphanet journal of rare diseases - 28 Oct 2013
Mignot Cyril, Apartis Emmanuelle, Durr Alexandra, Marques Lourenço Charles, Charles Perrine, Devos David, Moreau Caroline, de Lonlay Pascale, Drouot Nathalie, Burglen Lydie, Kempf Nadine, Nourisson Elsa, Chantot-Bastaraud Sandra, Lebre Anne-Sophie, Rio Marlène, Chaix Yves, Bieth Eric, Roze Emmanuel, Bonnet Isabelle, Canaple Sandrine, Rastel Coralie, Brice Alexis, Rötig Agnès, Desguerre Isabelle, Tranchant Christine, Koenig Michel, Anheim Mathieu
Abstract excerpt
Autosomal recessive cerebellar ataxia 2 (ARCA2) is a recently identified recessive ataxia due to ubiquinone deficiency and biallelic mutations in the ADCK3 gene. The phenotype of the twenty-one patients reported worldwide varies greatly. Thus, it is difficult to decide which ataxic patients are good candidates for ADCK3 screening without evidence of ubiquinone deficiency. We report here the clinical and molecular...
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