Explore the latest in neurogenetics, including advances in precision therapy emerging from mutation analysis and whole exome sequencing.
This Viewpoint explores the conundrum of Krabbe disease and whether it should be added to a newborn screening panel by looking at harms vs benefits.
This JAMA Patient Page describes Huntington disease and its symptoms, diagnosis, prognosis, and treatment options.
This Viewpoint disusses the importance of prioritizing access, safety, and social inclusion for human trials in the paradigm shift toward fetal therapies.
This genetic association study analyzes data from 4 Alzheimer disease and cognitive aging cohorts to investigate whether sex and race modify associations of APOE ε4 and ε2 with cognition.
This genetic association study assesses germline genetic causes of polymicrogyria in a large cohort and considers novel polymicrogyria gene associations.
This cohort study evaluates how bulk and single-cell genomic features of melanoma brain metastases are associated with clinical outcome and treatment response.
This cohort study estimates the prevalence and describes tumor types of melanoma-astrocytoma syndrome.
This mendelian randomization study evaluates whether genetically predicted insomnia is associated with risk of sepsis.
This case report describes segmental uniparental isodisomy causing an “inside-to-outside” limb-girdle muscular dystrophy due to a homozygous mutation in POGLUT1.
A 60-year-old patient with a history of lumbar spinal stenosis had 2 months of chest pain and shortness of breath with exertion and 3 months of toe numbness. Laboratory testing showed elevated levels of high-sensitivity troponin, brain-type natriuretic peptide, aspartate aminotransferase, and alanine aminotransferase; bone scintigraphy showed increased cardiac uptake. What is the diagnosis and what would you do next?
This case report describes muscle vibration during muscle contraction caused by an MYBPC1 variant.
This remote randomized clinical trial compares a mind-body skills training program with a health education program for improvement of quality of life among adults with neurofibromatosis.
This genetic association study uses mendelian randomization to examine potentially causal aspects of modifiable genetic risk factors for Alzheimer disease.
This Viewpoint discusses the findings of the Clarity AD trial, which studied lecanemab for patients with early-stage Alzheimer disease.
This cohort study attempts to examine the longitudinal association of frailty phenotype with the development of Parkinson disease and to explore the modification role of genetic risk of Parkinson disease in such association.
This study attempts to evaluate if the diagnostic yield of exome or genome sequencing in cerebral palsy is similar to that of other neurodevelopmental disorders.
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