Handbook of clinical neurology
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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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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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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.
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Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy associated with repetitive head trauma, including concussion and subconcussion. CTE was first recognized in boxers nearly a century ago as "dementia pugilistica" or "punch drunk," but has been recently identified in contact sports athletes (including American football, ice hockey, soccer, baseball, rugby, boxing, and wrestling) and military veterans exposed to blast. Similar to many other neurodegenerative diseases, CTE is diagnosed conclusively only by neuropathologic examination of brain tissue. ⋯ A preliminary study showed that inflammatory cytokines were elevated in the brain tissue and cerebrospinal fluid of individuals with pathologically confirmed CTE compared to controls and individuals with Alzheimer disease, which may some day be useful in diagnosis of CTE during life. Although many fundamental questions remain to be answered regarding CTE, postmortem analysis of tissue from brain donors and tissue-based research have accelerated and expanded our current understanding of CTE and its pathogenesis. Guided by the neuropathologic findings, current research efforts are underway to develop biomarkers to diagnose CTE and effective ways to treat the disorder during life.
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Sporadic adult-onset ataxia (SAOA) is a nongenetic neurodegenerative disorder of the cerebellum of unknown cause which manifests with progressive ataxia. It is distinguished from hereditary ataxias and from acquired ataxias. SAOA also needs to be differentiated from multiple system atrophy of cerebellar type (MSA-C). ⋯ Brain imaging typically shows isolated cerebellar atrophy. Nerve conduction studies provide evidence for polyneuropathy in about one-third of SAOA patients. As the etiology and pathogenesis of SAOA are unknown, there is no specific treatment approach to this condition.