Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification

  title={Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification},
  author={Ga{\"e}l Nicolas and A. Richard and Cyril Pottier and Christophe Verny and Franck Durif and Emmanuel Roze and Pascal Favrole and Gabrielle Rudolf and Mathieu Anheim and Christine Tranchant and Thierry 11 Fr{\'e}bourg and Dominique Campion and Didier Hannequin},
To the editor, We read with great interest the article by Hsu et al. [1], which highlighted SLC20A2 as a major causative gene of familial idiopathic basal ganglia calcification (IBGC, previously known as Fahr’s disease). Indeed, by means of international recruitment, they found that 41 % of IBGC families carried a SLC20A2 mutation. Recently, Yamada et al. [2] reported a screening of SLC20A2 mutations in IBGC patients from Japan. They found that 50 % of familial cases (defined as cases with… CONTINUE READING
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Evaluation of SLC 20 A 2 mutations that cause idiopathic basal ganglia calcification in Japan A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

G Nicolas, O Guillin, A Borden

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia

G Nicolas, C Pottier, C Charbonnier
calcification. Brain • 2013

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