Spotlight on Congenital cytomegalovirus

Cytomegalovirus (CMV) is a ubiquitous agent responsible for most intrauterine infections. Besides well-known symptoms and findings such as hearing loss and microcephaly, congenital cytomegalovirus infection can also underlie certain cerebral anomalies and static leukodystrophies.

In this article, Dr. Elena Grebenciucova and Dr. Raymond Roos of the University of Chicago discuss uncommon presentations of asymptomatic congenital cytomegalovirus, predicted outcomes of congenital multi-strain cytomegalovirus infection, and updates on potential cytomegalovirus vaccines.

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Spotlight on Cerebral amyloid angiopathy

Cerebral amyloid angiopathy is increasingly recognized as a major cause of hemorrhagic stroke in the elderly as well as an important contributor to the growing challenge of vascular cognitive impairment, even in cerebral amyloid angiopathy patients without hemorrhagic stroke.

In this update, Dr. Anand Viswanthan and Dr. Steven Greenberg of Harvard Medical School highlight: (1) the importance of sulcal bleeding events in early recurrent hemorrhagic stroke in cerebral amyloid angiopathy; (2) the varied clinical presentations and associated neuroimaging profiles of the disease; (3) the cognitive profile of cerebral amyloid angiopathy; (4) the cumulative importance of different pathologic lesions in cerebral amyloid angiopathy that contribute to cognitive decline and the emergence of techniques to measure this cumulative effect by assessing structural connectivity in the disease; (5) the role of impaired vascular reactivity early in disease course; and (6) the role of vascular amyloid in causing cerebral microbleeds in the disease.

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Spotlight on Idiopathic hypersomnia

In this article, Dr. Logan Schneider of Stanford University School of Medicine discusses idiopathic hypersomnia, which is characterized by excessive daytime sleepiness, difficulty awakening (sleep drunkenness), and undisturbed overnight sleep without cataplexy or known cause of excessive sleepiness. Excessive sleepiness (hypersomnolence) of unknown etiology, which cannot be explained by another disorder, would be considered idiopathic hypersomnia. This should be clearly distinguished from other disorders that could present with complaints of excessive daytime sleepiness, such as narcolepsy, behaviorally-induced insufficient sleep, circadian rhythm disturbance, obstructive sleep apnea, or from hypersomnolence secondary to a medical condition or medication.

Patients with idiopathic hypersomnia frequently present in adolescence and may have symptoms of autonomic nervous system dysregulation, but they are most often affected because of inability to attend to daytime obligations such as school or work.

Because the pathophysiology is unknown, management is limited to symptomatic treatment and education.

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Spotlight on Migraine aura without headache

Migraine is a common neurologic disorder that is prevalent in the younger population. With age, migraine prevalence decreases, but some people continue to experience migraine auras without the subsequent or associated headache pain. In this article, Dr. Shih-Pin Chen of the National Yang-Ming University School of Medicine reviews the clinical manifestations, prevalence, pathophysiology, therapeutic options, and prognosis for this selective group of patients. Breakthroughs in understanding the pathogenesis and clinical manifestations are highlighted.

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Spotlight on Charcot-Marie-Tooth disease type X

In this article, Dr. Steven Scherer of the University of Pennsylvania School of Medicine discusses X-linked Charcot-Marie-Tooth disease (CMT1X), the second most common form of inherited neuropathy. Patients develop a progressive distal weakness and atrophy that results from length-dependent axonal loss. More than 400 different mutations in GJB1, the gene that encodes the gap junction protein connexin32, cause CMT1X. Most mutations result in defective function of the gap junctions formed by Cx32. In addition to the demyelinating neuropathy, many patients have subclinical CNS findings, and a few GJB1 mutations are associated with striking, transient CNS manifestations.

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Spotlight on Aicardi-Goutieres syndrome

In this article, Dr. Peter Barth of the University of Amsterdam discusses Aicardi-Goutieres syndrome, a rare, genetically determined encephalopathy. The main features are progressive microcephaly associated with basal ganglia and white matter calcifications, leukodystrophy, cerebral atrophy, and variable increase of lymphocyte count in the cerebrospinal fluid. The cytokine interferon alpha is elevated in cerebrospinal fluid and blood.

There are 2 main clinical presentations: an early-onset neonatal form highly reminiscent of congenital infection and a later-onset presentation, occurring several months after normal development. Recessive mutations in any of 7 genes involved in the removal of redundant endogenous or exogenous DNA, RNA, or DNA/RNA hybrids can cause Aicardi-Goutieres syndrome.

Progress started with the pioneering work of Pierre Lebon, who discovered the increased interferon alpha in the cerebrospinal fluid of the patients. The last decade has seen the discovery of genes associated with Aicardi-Goutieres syndrome and the discovery of the basic pathogenic role of alpha-interferon by Yannick Crow, Gillian Rice, and many others.

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Spotlight on Sporadic schwannomas and neurofibromas

In this article, Dr. Herbert Newton, Director of the Neuro-Oncology Center at the Florida Hospital Cancer Institute provides an in-depth review of the pathology, biology, clinical presentation, and treatment options for sporadic schwannomas and neurofibromas. These tumors arise from the nerve sheaths of cranial nerves, nerve roots, spinal nerves, and peripheral nerves. The most common location for schwannomas is the eighth cranial nerve, whereas neurofibromas more commonly arise along the spinal nerve roots. Maximal surgical resection is the treatment of choice for most tumors. Radiotherapy is only used in selected cases. Chemotherapy is still under investigation for therapeutic potential. In this update, the author reviews advances in the molecular biology and therapeutic approaches to these tumors.

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Spotlight on Chiari malformation

Chiari malformation describes a group of structural defects of the cerebellum, characterized by brain tissue protruding into the spinal canal. Chiari malformations are often associated with myelomeningocele, hydrocephalus, syringomyelia, and tethered cord syndrome. Although studies of etiology are few, an increasing number of specific genetic syndromes are found to be associated with Chiari malformations. Management primarily targets supportive care and neurosurgical intervention when necessary. Renewed effort to address current deficits in Chiari research involves work groups targeted at pathophysiology, symptoms and diagnosis, engineering and imaging analysis, treatment, pediatric issues, and related conditions.

In this article, Dr. Ryan W Y Lee of Shriners Hospitals for Children in Honolulu and the John A Burns School of Medicine at the University of Hawaii discusses the many aspects of diagnosis and management of Chiari malformation.

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Spotlight on Akathisia

In this article, Dr. Dr. Stewart Factor of the Emory University School of Medicine discusses akathisia, the abnormal state of motor restlessness that is most commonly caused by neuroleptic therapy. It can be an acute side effect that improves with withdrawal of medication, or it can be tardive that worsens with drug withdrawal. Literature demonstrates that it occurs with atypical antipsychotics although perhaps less commonly than is seen with typical agents. This is a matter to be debated. The treatment has changed. In the past, the primary therapies included anticholinergics and propranolol. It has been demonstrated that anticholinergics are not effective. Propranolol remains a useful choice, but other medications, mirtazapine and trazodone, have also been found to be effective to an equal extent; the 3 drugs should be considered initial choices.

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Spotlight on Progressive multifocal leukoencephalopathy

Progressive multifocal leukoencephalopathy is an opportunistic demyelinating infection of the central nervous system caused by JC virus, a human polyomavirus. It is characterized pathologically by multifocal areas of myelin loss and microscopically by lytic infection of oligodendrocytes. The disorder is rare outside the setting of HIV infection, but 4% of untreated AIDS patients may contract and succumb to the disease. The condition has also become of increasing concern in patients receiving aggressive immunosuppression for organ or stem cell transplantation or treated with natalizumab, rituximab, and other newer immunosuppressive agents.

In this article, Dr. John E Greenlee of the University of Utah School of Medicine reviews the pathogenesis, clinical features, diagnosis, and treatment of this disorder.

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