Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. We used model mice to demonstrate that low Glut1 protein arrests cerebral angiogenesis, resulting in a profound diminution of the brain microvasculature without compromising the blood–brain barrier. Studies to define the temporal requirements for Glut1 reveal that pre-symptomatic, AAV9-mediated repletion of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the protein late, during adulthood, is devoid of benefit. Still, treatment following symptom onset can be effective; Glut1 repletion in early-symptomatic mutants that have experienced sustained periods of low brain glucose nevertheless restores the cerebral microvasculature and ameliorates disease. Timely Glut1 repletion may thus constitute an effective treatment for Glut1 DS.
A 48-year-old left-handed man presented to our emergency department (ED) with a 2-year history of auditory hallucinations that had become louder over several days. The hallucinations were the voices of the patient's mother and brother. They blamed him for his mother's death and sometimes gave him commands to shoplift, but never to harm himself or others. He denied visual hallucinations and paranoia. He had no significant medical or psychiatric history but did have a brother with schizophrenia. He had a history of cocaine and alcohol abuse but had been sober for over 200 days. Urine toxicology screen was negative. He was started on risperidone and observed overnight in the psychiatric ED. Because the patient's age was atypical for onset of a primary psychotic disorder, a CT scan of his head was obtained and neurology was consulted. On further interview, the patient demonstrated insight into the hallucinatory nature of the voices, remarking that whenever he carried out their commands, his actions felt unreal. He denied any episodes of shaking, loss of awareness, tongue-biting, or urinary incontinence. He reported having had 2 headaches in the prior 6 weeks, the worst of his life, described as severe, bifrontal, and without accompanying focal neurologic symptoms. The patient's neurologic examination was notable only for mildly impaired short-term recall, diminished sensation of light touch over the right forehead, and reduced amplitude and rate of finger taps on the right (his nondominant hand). Questions for consideration: 1. What is the differential diagnosis for auditory hallucinations? 2. What elements of the patient's presentation raise the possibility of a neurologic diagnosis? GO TO SECTION 2
The term "neuro-obstetrics" refers to a multidisciplinary approach to the care of pregnant women with neurologic comorbidities, both preconceptionally and throughout pregnancy. General preconception care should be offered to all women, including women with neurologic disease. Women with neurologic comorbidities should also be offered specialist preconception care by an obstetrician who consults with a neurologist, anesthesiologist, and if indicated clinical geneticist and/or other specialists.In women with neurologic comorbidities, neurologic sequelae may influence the course of the pregnancy and delivery. Also, pregnancy may influence the severity of the neurologic condition, depending on the type of disease. Physiologic adaptations during pregnancy and altered pharmacokinetics may cause altered blood serum levels of drugs, leading to decreased or increased drug effects. When administering drugs to a woman who wishes to conceive, it is important to consider possible teratogenic effects and possible secretion in breast milk. Tailoring medication regimens should be considered, preferably preconceptionally. In this chapter, we review general principles of neuro-obstetric care, as well as some specific considerations for neurologists, obstetricians, and anesthesiologists caring for pregnant women with common neurologic conditions.
Global health programs advocate for a better understanding of health disparities, often prompting medical trainees to practice medicine in an international setting. The relevance of global health electives in neurology is highlighted by the increasing burden of neurologic diseases in low-and middle-income countries (LMICs), representing 84% of the world's population. 1,2 Cerebrovascular disease is the second leading cause of morbidity and mortality worldwide, and dementia, meningitis, migraine, and epilepsy are in the top 50 factors in disability-adjusted life years. Neurologists therefore play a key role in global health, caring for patients with acute neurologic disorders and neurologic sequelae of both noncommunicable and communicable diseases. Despite this, there are only 0.03 to 1.09 neurologists per 100,000 people in LMICs, with large inequalities in access to care, compared to 4.75 per 100,000 population in high-income countries. 3 Through developing collaborative relationships and a cross-cultural exchange of knowledge, US neurology trainees can play a role in addressing these disparities in neurologic care.
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