A scientific story that began with a discovery in just one extraordinary patient is now panning out.
Mass General BrighamJun 20 2024 In 2019, an international team that included researchers from two Mass General Brigham hospitals -; Mass Eye and Ear and Massachusetts General Hospital -; reported on the case of a patient who did not develop cognitive impairment until her late 70s, despite being part of a family at extremely high genetic risk for developing early-onset Alzheimer's disease.
Yakeel T. Quiroz, PhD, co-first author, clinical neuropsychologist and neuroimaging researcher and director of the Familial Dementia Neuroimaging Lab in the Departments of Psychiatry and Neurology at Massachusetts General Hospital In addition to the 2019 case report about a family member with two copies of the Christchurch variant, molecular studies have added further biological evidence that the variant could be playing a protective role. In 2023, the research team identified another "resiliency gene variant" called Reelin-COLBOS that appeared to delay the onset of symptoms in other family members.
Related StoriesThe research team assessed 1,077 descendants of the Colombian family. They identified 27 family members who carried both Paisa mutation and one copy of the Christchurch variant. On average, these family members began showing signs of cognitive impairment at age 52, compared to a matched group of family members who did not have the variant, who began showing signs at age 47. The family members also showed signs of dementia four years later than those who did not carry the variant.
Alzheimer's Disease Autosomal Biogen Biomarker Blood Brain Dementia Ear Eye Gene Hospital Medicine Mutation Neuroimaging Research Therapeutics
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