5 documents found, page 1 of 1
Neuropathology of central nervous system involvement in TTR amyloidosis
Taipa, R; Sousa, L; Pinto, M; Reis, I; Rodrigues, A; Oliveira, P; Melo-Pires, M; Coelho, THereditary transthyretin amyloidosis (ATTRv) is a systemic disease caused by the accumulation of misfolded transthyretin (TTR). It usually presents with an adult-onset progressive axonal peripheral neuropathy and cardiomyopathy. In the central nervous system (CNS), variant TTR is produced by the choroid plexus and accumulates in the leptomeninges. CNS symptoms have been increasingly recognized in this populatio...
Clinicopathological correlations of sural nerve biopsies in TTR Val30Met famili...
Fernandes, A; Coelho, T; Rodrigues, A; Felgueiras, H; Oliveira, P; Guimarães, A; Melo-Pires, M; Taipa, RFamilial amyloid polyneuropathy with the substitution of methionine for valine at position 30 in the TTR gene is the most common type of hereditary transthyretin amyloidosis. Although several authors have previously reported a size-dependent fibre loss, predominantly involving unmyelinated and small-diameter myelinated fibres, the mechanisms of nerve fibre loss have not been fully understood. In this study, we ...
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-...
Oliveira, J; Gruber, A; Cardoso, M; Taipa, R; Fineza, I; Gonçalves, A; Laner, A; Winder, TL; Schroeder, J; Rath, J; Oliveira, ME; Vieira, E; Sousa, APCongenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 de...
Clinical, biochemical, molecular, and histological features of 65 Portuguese pa...
Cruz, S; Taipa, R; Nogueira, C; Pereira, C; Almeida, S; Neiva, R; Geraldes, T; Guimarães, A; Melo-Pires, M; Vilarinho, LINTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clini...
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Cruz, S; Taipa, R; Nogueira, C; Melo-Pires, M; Vilarinho, L