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A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant by Tauana Bernardes Leoni; Carelis González‐Salazar; Thiago Junqueira R. Rezende; Ana Luisa C. Hernández; Alexandre Hilário B. Mattos; Antônio Rodrigues Coimbra Neto; Felipe Franco da Graça; João Pedro Nunes Gonçalves; Alberto R.M. Martinez; Lucas Taniguti; João Paulo Kitajima; Fernando Kok; Fábio Rogério; André Macedo Serafim da Silva; Alexandre Leite Rodrigues de Oliveira; Edmar Zanoteli; Anamarli Nucci; Marcondes C. França is a Medicine article available to read on EtoBox.

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## Objective Protein misfolding plays a central role not only in amyotrophic lateral sclerosis (ALS), but also in other conditions, such as frontotemporal dementia (FTD), inclusion body myopathy (hIBM) or Paget's disease of bone. The concept of multisystem proteinopathies (MSP) was created to account for those rare families that segregate at least 2 out of these 4 conditions in the same pedigree. The calcium‐dependent phospholipid‐binding protein annexin A11 was recently associated to ALS in European pedigrees. Herein, we describe in detail 3 Brazilian families presenting hIBM (isolated or in combination with ALS/FTD) caused by the novel p.D40Y change in the gene encoding annexin A11 (ANXA11). ## Methods We collected clinical, genetic, pathological and skeletal muscle imaging from 11 affected subjects. Neuroimaging was also obtained from 8 patients and 8 matched controls. ## Results Clinico‐radiological phenotype of this novel hIBM reveals a slowly progressive predominant limb‐girdle syndrome, but with frequent axial (ptosis/dropped head) and distal (medial gastrocnemius) involvement as well. Muscle pathology identified numerous rimmed vacuoles with positive annexin A11, TDP‐43 and

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Author

Tauana Bernardes Leoni; Carelis González‐Salazar; Thiago Junqueira R. Rezende; Ana Luisa C. Hernández; Alexandre Hilário B. Mattos; Antônio Rodrigues Coimbra Neto; Felipe Franco da Graça; João Pedro Nunes Gonçalves; Alberto R.M. Martinez; Lucas Taniguti; João Paulo Kitajima; Fernando Kok; Fábio Rogério; André Macedo Serafim da Silva; Alexandre Leite Rodrigues de Oliveira; Edmar Zanoteli; Anamarli Nucci; Marcondes C. França

Publisher

Wiley

Published

2021

Language

EN

Field

Medicine (Health Sciences)