Publications by authors named "B Quintans-Castro"
Background: Monogenic Alzheimer's disease (AD) has severe health and socioeconomic repercussions. Its rarest cause is presenilin 2 () gene mutations. We present two new cases with presumed PSEN2-AD with unusual clinical and neuroimaging findings in order to provide more information on the pathophysiology and semiology of these patients.
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- The study focused on the prevalence of ataxia and hereditary spastic paraplegia in Spain, involving 1933 patients from various regions between 2018 and 2019.
- Results showed that ataxia was more prevalent (70.9%) compared to hereditary spastic paraplegia (29.1%), with overall prevalence rates of 5.48 and 2.24 cases per 100,000 population, respectively.
- A significant portion of patients (47.6%) lacked a genetic diagnosis, highlighting the need for improved healthcare resources and awareness for these rare disorders.
Article Synopsis
- - The study aimed to assess the prevalence of ataxia and hereditary spastic paraplegia in Spain during 2019, finding 1,809 affected patients with an average age of 53.64 years.
- - Results showed that 70.9% of patients had ataxia, with prevalence rates of 5.48 cases per 100,000, while hereditary spastic paraplegia had a prevalence of 2.24 cases per 100,000.
- - The study highlighted that genetic causes were unidentified in nearly half of the patients, emphasizing the need for better healthcare resources and awareness about these neurodegenerative disorders.
Other participants at the EMQN Best Practice Meeting and/or at the electronic discussions thereafter were Isabel Alonso, Anna Andersson, David Barton, Nazli Bazac, Kyproula Christodoulou, Luís Correia, Mark Davis, Mary Davis, Rob Elles, Marina Frontali, Javier Garcia-Planells, Paola Giunti, Petra Hämäläinen, Jenni Jonasson, Outi Kamarainen, Nina Larsson, Eric Leguern, Monique Losekoot, Carla Martins, Michael Morris, Clemens Müller-Reible, Simon Patton, M Luiza Saraiva-Pereira, Jorge Pinto-Basto, Beatriz Quintáns, Simon C Ramsden, Anna Ravani, Laura Rooke, Isabel Silveira, Richard Sinke, Su Stenhouse, Laura Stewart, Katrien Storm, Anna Sulek-Piatkowska, Francine Thonney, Victor Volpini, Jon Warner, Helga Weirich, Stefan Wieczorek and Christine Zühlke.
View Article and Find Full Text PDFIntroduction: Myoadenylate deaminase deficiency (MAD) constitutes the most common genetically determined enzymatic defect of the skeletal muscle (2% of the population), however, it causes clinical symptoms such us exercise-related muscle cramps and pain in quite a lower number of patients, being exceptional in children.
Case Report: A 7 year old boy is referred with intense myalgias after physical exertion associating increased creatin kinase level 3,273 UI/L (normal 24-195) which goes down in rest period to increase again with myalgias during exercise. The ischemic forearm exercise test shows a flat ammonia curve with a normal lactate rise in relation to control.