8 documents found, page 1 of 1
Genetic Variation in ATXN3 (Ataxin-3) 3′UTR: Insights into the Downstream Regul...
Melo, Ana Rosa Vieira; Raposo, Mafalda; Ventura, Marta; Martins, Sandra; Pavão, Sara; Alonso, Isabel; Bettencourt, Conceição; Lima, ManuelaUntranslated regions are involved in the regulation of transcriptional and post-transcriptional processes. Characterization of these regions remains poorly explored for ATXN3, the causative gene of Machado-Joseph disease (MJD). Although a few genetic modifiers have been identified for MJD age at onset (AO), they only explain a small fraction of the AO variance. Our aim was to analyse variation at the 3'UTR of A...
Rare disease associations in Portugal: an importante source of psychosocial sup...
Costa, Catarina; Alonso, Isabel; Sequeiros, Jorge; Paneque, MilenaThis study aimed to characterize the development of Portuguese patient associations, mostly on rare diseases, as a relevant source of psychosocial support for patients and their families. Participants represented 23 patients’ associations or delegations, with which interviews were carried out. Recordings were transcribed and analyzed using the thematic analysis method. Three conceptual categories emerged in the...
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular B...
Santos, Mariana; Damásio, Joana; Kun-Rodrigues, Celia; Barbot, Clara; Sequeiros, Jorge; Brás, José; Alonso, Isabel; Guerreiro, RitaHomozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cere...
A Novel Variant in the Cacna1s Gene Associated with Hypokalemic Periodic Paraly...
A. Maia, Carla; Hipólito-Reis, Ana; Pinho, Oliveira; Alonso, Isabel; Vasco Barreto, J.Hypokalemic periodic paralysis is a rare condition secondary to a genetic abnormality in calcium or sodium voltagedependent ion channels. It typically presents with muscleweakness and concomitant low serum concentration of potassium after exercise or emotional distress. We report thecase of a woman who presented with flaccid tetraparesisand severe hypokalemia in which we have identified a novel probably disease...
Proinflammatory and anti-inflammatory cytokines in the CSF of patients with Alz...
Taipa, Ricardo; das Neves, Sofia P.; Sousa, Ana L.; Fernandes, Joana; Pinto, Claudia; Correia, Ana P.; Santos, Ernestina; Pinto, Pedro S.Cumulative data suggest that neuroinflammation plays a prominent role in Alzheimer's disease (AD) pathogenesis. The purpose of this work was to assess if patients with AD present a specific cerebrospinal fluid (CSF) cytokine profile and if it correlates to disease progression. We determined the levels of 27 cytokines in CSF of patients with AD and compared them with patients with frontotemporal dementia and non...
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant
Pereira, Sandra; Adrião, Mariana; Sampaio, Mafalda; Basto, Margarida Ayres; Rodrigues, Esmeralda; Vilarinho, Laura; Teles, Elisa Leão; Alonso, IsabelIntroduction: Combined oxidative phosphorylation deficiency 20 (COXPD20) is a mitochondrial respiratory chain complex (RC) disorder, caused by disease-causing variants in the VARS2 gene, which encodes a mitochondrial aminoacyl-tRNA synthetase. Here we describe a patient with fatal mitochondrial encephalopathy caused by a homozygous VARS2 gene missense variant. Case Report: We report the case of a girl, the firs...
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutati...
Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, PaulaThe fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in the general population. To estimate the frequency of FMR1 premutations among Portuguese males with non-familial, late-onset movement disorders of unknown etiology, we assess...
Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage...
Alonso, Isabel; Marques, Joana M.; Sousa, Nuno; Sequeiros, Jorge; Olsson, I. Anna S.; Silveira, IsabelThe leaner mutation in mice affects the Ca(v)2.1 voltage-gated calcium channel alpha(1A)-subunit gene (Cacna1a), causing a reduction in calcium currents predominantly in Purkinje cells. This reduction in calcium currents causes severe progressive cerebellar ataxia, beginning around postnatal day 10, in homozygous leaner mice (tg(la)/tg(la)), while their heterozygous littermates (tg(la)/+) present no obvious beh...