Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, China
The pathogenesis of Alzheimer s disease is complex, and early-onset Alzheimer s disease (EOAD) is mostly influenced by genetic factors. Presenilin-1, presenilin-2 (PSEN2), and amyloid precursor protein are currently known as the three main causative genes for autosomal dominant EOAD, with the PSEN2 mutation being the rarest. In this study, we reported a 56-year-old Chinese Han proband who presented with prominent progressive amnesia, aphasia, executive function impairment, and depression 5 years ago. The 3-year follow-up showed that the patient experienced progressive brain atrophy displayed on magnetic resonance imaging (MRI) and dramatic cognitive decline assessed by neuropsychological evaluation. This patient was clinically diagnosed as EOAD based on established criteria. A heterozygous variant (NM 000447.2: c.1106T>C) of PSEN2 was identified for the first time in this patient and her
February 2, 2021
By Deborah Borfitz
February 2, 2021 | The Human Heredity and Health in Africa (H3Africa) Consortium is endeavoring to foster collaborative research on the world’s second-most populous continent, having spent the past decade bolstering the genomics research capacity here with 48 projects across 34 countries. Clinical geneticist and physician-scientist Neil Hanchard, M.D., Ph.D., through his academic position at Baylor College of Medicine, has, for example, been involved in a H3Africa-sponsored genomic study in children coinfected with HIV and tuberculosis whose principal investigator is based in Botswana.
Most recently, Hanchard was one of the senior authors on an H3Africa-sponsored study published in