ANDRE MACEDO SERAFIM DA SILVA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
3 resultados
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- A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant(2021) LEONI, Tauana Bernardes; GONZALEZ-SALAZAR, Carelis; REZENDE, Thiago Junqueira R.; HERNANDEZ, Ana Luisa C.; MATTOS, Alexandre Hilario B.; COIMBRA NETO, Antonio Rodrigues; GRACA, Felipe Franco da; GONCALVES, Joao Pedro Nunes; MARTINEZ, Alberto R. M.; TANIGUTI, Lucas; KITAJIMA, Joao Paulo; KOK, Fernando; ROGERIO, Fabio; SILVA, Andre Macedo Serafim da; OLIVEIRA, Alexandre Leite Rodrigues de; ZANOTELI, Edmar; NUCCI, Anamarli; JR, Marcondes C. FrancaObjective 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 p62 inclusions, but no inflammation. Central nervous system was also involved: two patients had FTD, but diffusion tensor imaging uncovered multiple areas of cerebral white matter damage in the whole group (including the corticospinal tracts and frontal subcortical regions). Interpretation These findings expand the phenotypic spectrum related to ANXA11. This gene should be considered the cause of a novel multisystem proteinopathy (MSP type 6), rather than just ALS. ANN NEUROL 2021
- Severe brain involvement in 5q spinal muscular atrophy type 0(2019) MENDONCA, Rodrigo H.; ROCHA, Antonio J.; LOZANO-ARANGO, Andres; DIAZ, Astry B.; CASTIGLIONI, Claudia; SILVA, Andre M. S.; REED, Umbertina C.; KULIKOWSKI, Leslie; PARAMONOV, Ida; CUSCO, Ivon; TIZZANO, Eduardo F.; ZANOTELI, EdmarSpinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019
- Reply to ""Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0""(2019) MENDONCA, Rodrigo H.; ROCHA, Antonio J.; LOZANO-ARANGO, Andres; DIAZ, Astry B.; CASTIGLIONI, Claudia; SILVA, Andre M. S.; REED, Umbertina C.; KULIKOWSKI, Leslie; PARAMONOV, Ida; CUSCO, Ivon; TIZZANO, Eduardo F.; ZANOTELI, Edmar