Handbook of clinical neurology
-
Genetics of migraine has recently undergone a major shift, moving in the space of a few years from having only a few known genes for rare Mendelian forms to 47 known common variant loci affecting the susceptibility of the common forms of migraine. This has largely been achieved by rapidly increasing sample sizes for genomewide association studies (GWAS), soon to be followed by the first wave of large-scale exome-sequencing studies. ⋯ Heritability-based analyses are demonstrating strong links between migraine and other neuropsychiatric disorders and brain phenotypes, highlighting genetic links between migraine and major depressive disorder and attention-deficit hyperactivity disorder, among others. These recent successes in migraine genetics are starting to be mature enough to provide robust evidence of specific quantifiable genetic factors in common migraine.
-
The cerebellum is the most common site of presentation of central nervous system tumors in children but exceedingly rare in adults. Children often present with acute symptoms related to increased intracranial pressure, requiring urgent surgical intervention. ⋯ Embryonal tumors, on the other hand - most commonly medulloblastomas - are highly aggressive and treatment includes intensive postsurgical radiotherapy and chemotherapy. Driven by multiple genomewide profiling studies, the field of neuro-oncology is making great strides towards understanding how different tumors develop and embarking on a new generation of molecularly informed clinical trials.
-
The embryologic development of the cerebellum extends over a long time period, thus making it vulnerable to a broad spectrum of malformations and disruptions. Knowledge of the main steps of fetal posterior fossa development; the normal imaging patterns at different stages of embryogenesis; the large spectrum of cerebellar malformations; and their clinical presentations enables diagnosis and precise counseling of parents. Sonography is the most important imaging method for the screening of cerebellar malformations since it is noninvasive, widely available, and safe for both mother and child. ⋯ Good-quality images have been obtained thanks to the implementation of fast and ultrafast MRI sequences. Fetal MRI has higher-contrast resolution than prenatal sonography and may contribute to the differentiation of normal from abnormal tissue. Both prenatal neurosonography and fetal MRI enable accurate prenatal diagnosis of most posterior fossa anomalies.
-
Tens of millions of children and adults participate in organized sport in the United States each year. Although uncommon, fatal and severe nonfatal brain and spine injuries can occur during these activities. These "catastrophic" injuries have been noted in contact sports such as football, rugby, and ice hockey, as well as in noncontact sports including baseball, cheerleading, swimming and diving, equestrian, gymnastics, pole vault, rodeo, snow skiing, snowboarding, and wrestling. ⋯ Participating in sport provides many benefits to physical and mental health. Despite these benefits, rare devastating injuries can be traumatic for the athletes, their families, and communities and can raise safety concerns that may reduce participation in sport. Understanding and preventing these types of injuries are critical to fostering participation in sport and ensuring both children and adults reap the physical, social, and mental benefits of sport.
-
Postconcussion syndrome (PCS) is a heterogeneous condition comprised of a set of signs and symptoms in somatic, cognitive, and emotional domains. PCS is a controversial concept because of differing consensus criteria, variability in presentation, and lack of specificity to concussion. Whereas symptoms of concussion resolve in most individuals over days to weeks, a minority of individuals experience symptoms persisting months to years. ⋯ Successful treatment requires thoughtful differential diagnosis, including consideration of comorbid and premorbid conditions and other possible contributing factors. Treatment should include a hierarchic, sequential approach to management of treatable symptoms that impact functioning, such as depression, anxiety, insomnia, headache, musculoskeletal pain, and vertigo. A guided prescription of aerobic exercise is beneficial for early- and late-phase disorders after concussion.