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Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndro...
Ribeiro, C; Macário, MC; Viegas, AT; Pratas, J; Santos, MJ; Simões, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, MLeigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a non...
Neuromyelitis Optica in Portugal (NEMIPORT) - A Multicentre Study
Domingos, J; Isidoro, L; Figueiredo, R; Brum, M; Capela, C; Barros, P; Santos, E; Macário, MC; Pinto Marques, J; Pedrosa, R; Vale, J; Sá, MJBACKGROUND: Neuromyelitis Optica (NMO) is an inflammatory demyelinating disease of the CNS. There have been few epidemiologic studies on NMO, none in Portugal. OBJECTIVE: To analyze the clinical, biological and MRI characteristics from a cohort of Portuguese patients who fulfilled the Wingerchuk 2006 NMO/NMOSD criteria. To identify and characterize those who had concomitant autoimmune disease or circulating aut...
Xantomatose cerebrotendinosa: casuística da consulta de Doenças Metabólicas e r...
Araújo, R; Batista, S; Ribeiro, A; Valongo, C; Quelhas, D; Vilarinho, L; Macário, MCIntrodução: A xantomatose cerebrotendinosa (CTX) é uma doença metabólica rara, classificada como um defeito na síntese dos ácidos biliares, de transmissão autossómica-recessiva, causada por mutações no gene CYP27A1, que codifica a enzima esterol 27-hidrolase. Estão descritas mais de 50 mutações, originando/causando elevada heterogeneidade molecular e fenotípica. Os achados clínicos mais descritos incluem catara...
Neuro-Behçet: A Clinical Exercise
Oliveira, MA; Pereira da Silva, JA; Nour, D; Macário, MC; Malcata, AB; Porto, A; Siva, A; Yazici, HBehçet disease is a recurrent systemic vasculitis of unknown etiology, that involves vessels of nearly all sizes and types. Because of this, disease manifestations can occur at many sites throughout the body. Central nervous system (CNS) involvement may be parenchymal or nonparenchymal and has a global prevalence that ranges from 3% to 10%. Main signs of CNS involvement are pyramidal and those resulting from br...