Article
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Human mutation - 1 May 2017
Echaniz-Laguna Andoni, Geuens Thomas, Petiot Philippe, Péréon Yann, Adriaenssens Elias, Haidar Mansour, Capponi Simona, Maisonobe Thierry, Fournier Emmanuel, Dubourg Odile, Degos Bertrand, Salachas François, Lenglet Timothée, Eymard Bruno, Delmont Emilien, Pouget Jean, Juntas Morales Raul, Goizet Cyril, Latour Philippe, Timmerman Vincent, Stojkovic Tanya
Abstract excerpt
In this study, we describe the phenotypic spectrum of distal hereditary motor neuropathy caused by mutations in the small heat shock proteins HSPB1 and HSPB8 and investigate the functional consequences of newly discovered variants. Among 510 unrelated patients with distal motor neuropathy, we identified mutations in HSPB1 (28 index patients/510; 5.5%) and HSPB8 (four index patients/510; 0.8%) genes. Patients have...
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