Nature

Biomarker Analysis in Autosomal Dominant Alzheimer’s Disease

Autosomal dominant Alzheimer’s disease (ADAD) arises from highly penetrant mutations in genes encoding amyloid precursor protein or presenilin enzymes, leading to an almost inevitable progression to ...
Nature

Autosomal Dominant Polycystic Kidney Disease Management and Outcomes

Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterised by progressive formation and enlargement of fluid-filled cysts in the renal parenchyma, most commonly due to ...
The New England Journal of Medicine

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1

Panel A shows the clinical characteristics and treatments for all six unrelated patients with autosomal dominant hypocalcemia type 1 (ADH1) who received continuous subcutaneous parathyroid hormone ...
ascopubs.org

Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...
MedPage Today

Autosomal Dominant Polycystic Kidney Disease

Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...