Handbook of clinical neurology
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Dystonia is a heterogeneous disorder characterized by involuntary muscle contractions, twisting movements, and abnormal postures in various body regions. It is widely accepted that the basal ganglia are involved in the pathogenesis of dystonia. ⋯ Several clinical observations, including those from secondary dystonia cases as well as neurophysiologic and neuroimaging studies in human patients, provide further evidence in humans of a possible relationship between cerebellar abnormalities and dystonia. Claryfing the role of the cerebellum in dystonia is an important step towards providing alternative treatments based on noninvasive brain stimulation techniques.
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Accidental hypothermia causes profound changes to the body's physiology. After an initial burst of agitation (e.g., 36-37°C), vital functions will slow down with further cooling, until they vanish (e.g. <20-25°C). Thus, a deeply hypothermic person may appear dead, but may still be able to be resuscitated if treated correctly. ⋯ Intermittent CPR may be appropriate in hypothermic arrest when continuous CPR is impossible. Modern postresuscitation care should be implemented following hypothermic arrest. Structured protocols should be in place to optimize prehospital triage, transport, and treatment as well as in-hospital management, including detailed criteria and protocols for the use of ECLS and postresuscitation care.
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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.
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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.
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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.