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Maternal longevity is associated with reduced risk but an earlier onset of alzh...
Tábuas-Pereira, Miguel; Mano, Francisco; Bernardes, Catarina; Durães, João; Lima, Marisa; DenHaan, Kaitlyn; Paquette, Kimberly; Kun-Rodrigues, CéliaWhile human longevity has increased significantly over the last 2 centuries, the time spent in good physical and cognitive health has not risen proportionately. The incidence of Alzheimer’s disease (AD) increases with age, but parental longevity is often associated with better offspring health and lower AD risk. This study aimed to investigate the relationship between parental longevity and AD. We included pati...
Molecular characterization of Portuguese patients with hereditary cerebellar at...
Santos, Mariana; Damásio, Joana; Carmona, Susana; Neto, João Luís; Dehghani, Nadia; Correia Guedes, Leonor; Barbot, Clara; Barros, José; Brás, JoséHereditary cerebellar ataxia (HCA) comprises a clinical and genetic heterogeneous group of neurodegenerative disorders characterized by incoordination of movement, speech, and unsteady gait. In this study, we performed whole-exome sequencing (WES) in 19 families with HCA and presumed autosomal recessive (AR) inheritance, to identify the causal genes. A phenotypic classification was performed, considering the ma...
SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma
Young, Terri L.; Whisenhunt, Kristina N.; Jin, Jing; LaMartina, Sarah M.; Martin, Sean M.; Souma, Tomokazu; Limviphuvadh, Vachiranee; Suri, FatemehPURPOSE. Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK haploinsufficiency accounts for 5% of PCG in diverse populations, with low penetrance explained by variable dysgenesis of Schlemm’s canal (SC) in mice. We report ei...
Takotsubo cardiomyopathy, beyond ventriculography and classical bidimensional e...
Caldeira, Daniel; Lopes, Luis; Carmona, Susana; Gomes, Catarina; Cruz, Inês; Santos, Joaquim; Pereira, Hélder; Santos, Ana IsabelTakotsubo cardiomyopathy (TTC) is a non-familial unclassified cardiomyopathy. It was firstly diagnosed in Japan in the early 90s as the classical transient left ventricular dysfunction consisting in systolic apical ballooning — apical akinesia/dyskinesia and hyperkinesia of basal segments. The majority of patients are initially diagnosed as having an acute coronary syndrome, based on the symptoms, ECG and bioma...