Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We describe the follow-up of a patient who was diagnosed with late-onset MELAS at the age of 49. Her clinical course includes sensorineural hearing loss, seizures, and multiple episodes of stroke-like metabolic crises. Molecular genetic testing on whole blood revealed 31% heteroplasmy of a m.3243A > G variant in the mtDNA, the causative variant in approximately 80% of MELAS cases. The original diagnostic criteria for MELAS required the onset of stroke-like episodes prior to 40 years of age but this case and others demonstrate that onset may be delayed in certain individuals. Therefore, MELAS should be included in the differential diagnosis of stroke-like episodes in patients of any age.

Among medical students, neurosceince is considered a notoriously difficult subject. This challenges faculty to teach preclinical neurology in more engaging, efficient, and prioritized ways. Traditional approaches to neuroscience instruction typically begin with neuroanatomy and advance to clinical problem solving after this foundation of knowledge is in place. Over the past 45 years, neurology faculty at Mayo Clinic Alix School of Medicine have developed and iteratively refined an inverted approach called The Basic Four. The Basic Four uses authentic clinical scenarios as the basis for neuroscience instruction and incorporates principles from cognitive load theory to calibrate load on students’ working memory. This perspective describes The Basic Four and illustrates how cognitive load theory can be used to enhance case-based learning.

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Twelve personal narratives address the challenges, benefits, and pitfalls of genetic testing. Three commentary articles explore these stories and suggest lessons that can be learned from them. The commentators come from backgrounds that include bioethics, public health, psychology, and philosophy.