Explore the latest in neurogenetics, including advances in precision therapy emerging from mutation analysis and whole exome sequencing.
This cross-sectional study assesses maternal history or paternal history of memory impairment (as a proxy for Alzheimer disease dementia) and brain β-amyloid burden and cognition in older adults.
This study evaluates the prognostic value of routinely available cardiovascular biomarkers when added to established risk factors in the identification of individuals at high risk for atherosclerotic cardiovascular disease.
This Viewpoint discusses how data gaps in published research impede clinicians’ ability to clearly discuss the risks and benefits of amyloid-lowering drugs for treating Alzheimer disease.
This randomized clinical trial investigates the effects of solanezumab and gantenerumab on downstream biomarkers in individuals with dominantly inherited Alzheimer disease.
This cohort study estimates the heritability of clinically diagnosed obsessive-compulsive disorder in a sample of twins.
This Arts and Medicine feature reviews the clinical and neurophysiologic features of earworms, music fragments heard in the mind that repeat over and over as if jammed in playback mode.
This JAMA Insights discusses the signs and symptoms, diagnosis, and treatment of myotonic dystrophy type 1.
This case report describes the evaluation of a 44-year-old man with a history of headache, dizziness, and imbalance and imaging that showed lacunar infarctions and bilateral white matter hyperintensities.
This case report studies a 12-year-old boy with a family history of X-linked adrenal leukodystrophy and his 8-year-old younger brother.
This cross-sectional study uses UK Biobank and All of Us Research Program data to assess whether APOE ε4 is associated with higher risk of intracerebral hemorrhage among patients with known brain arteriovenous malformation.
This case-control study compares the genome expression at birth and associated outcome in neonates with hypoxic-ischemic encephalopathy in a high-income country (Italy) and their counterparts in low- to middle-income countries (India, Sri Lanka, and Bangladesh).
This narrative review discusses several types of gene editing using clustered regularly interspaced short palindromic repeats (CRISPR), how these are applied to different genetic variants, challenges of delivering genome editors to the central nervous system, ways to minimize the potential in vivo genotoxic effects of genome editors, the ethical considerations of germline editing, and the regulatory challenges of human-specific therapy.
This case report describes 4 patients with a rare autosomal dominant multisystem disorder resulting from NF1 variants that leads to café-au-lait macules and neurofibromas.
A 51-year-old woman presented with a 2-year history of progressive memory loss and left limb numbness. Imaging showed multifocal restricted diffusion in the corpus callosum and diffuse subcortical white matter hyperintensities and corpus callosum atrophy. What is your diagnosis?
This case report describes the evaluation of 16-year-old twins with chromosomal microarray and mirror movements.
A 31-year-old woman was seen with contractures in her fingers and toes, carpal inversion, dysarthria, dysphagia, hypertonia, decreased tendon reflexes, absence of Babinski sign, and no psychiatric problems and significant global atrophy. What is your diagnosis?
This systematic review and meta-analysis explores whether exome sequencing should be used as a test for the molecular diagnosis of congenital hydrocephalus.
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