NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.

doi:10.1093/brain/awab407

Article

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.

Brain : a journal of neurology - 24 May 2022

Coutelier Marie, Jacoupy Maxime, Janer Alexandre, Renaud Flore, Auger Nicolas, Saripella Ganapathi-Varma, Ancien François, Pucci Fabrizio, Rooman Marianne, Gilis Dimitri, Larivière Roxanne, Sgarioto Nicolas, Valter Rémi, Guillot-Noel Léna, Le Ber Isabelle, Sayah Sabrina, Charles Perrine, Nümann Astrid, Pauly Martje G, Helmchen Christoph, Deininger Natalie, Haack Tobias B, Brais Bernard, Brice Alexis, Trégouët David-Alexandre, El Hachimi Khalid H, Shoubridge Eric A, Durr Alexandra, Stevanin Giovanni

Abstract excerpt

With more than 40 causative genes identified so far, autosomal dominant cerebellar ataxias exhibit a remarkable genetic heterogeneity. Yet, half the patients are lacking a molecular diagnosis. In a large family with nine sampled affected members, we performed exome sequencing combined with whole-genome linkage analysis. We identified a missense variant in NPTX1, NM_002522.3:c.1165G>A: p.G389R, segregating with...

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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.

Abstract excerpt

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