Abstract：
OPINION STATEMENT:Neurofibromatosis type 1 (NF1) is a genetic multisystemic disorder involving the skin, the central and peripheral nervous systems, bones, and the cardiovascular and endocrine systems. This condition is caused by inherited or de novo mutations of the NF1 gene at the 17q11.2 chromosomal region, a gene that codes for the protein neurofibromin. Neurofibromin is particularly expressed in neural cells and inhibits the RAS pathway, which regulates cellular proliferation and differentiation. The typically age-dependent emergence of diagnostic signs and the risk for severe complications in the first years of life simultaneously makes a precocious diagnosis crucial and makes the management of children with suspected NF1 challenging. Currently, no standardized specific treatments for NF1 and its complications are available. However, in recent years, increasing knowledge of the pathogenetic mechanisms has motivated the scientific search behind targeted biological agents that might change the course of the disease. Numerous clinical trials for the treatment of the most typical NF1 complications, such as plexiform neurofibromas (Ns) and NF1-related tumors, have been conducted. Consequently, encouraging in vitro and in vivo results are emerging. Insufficient efficacy and safety in in vivo data do not permit the routine use of these drugs in clinical practice. Radiotherapy appears to be indicated only for high-grade soft-tissue sarcomas, whereas surgical approaches should be considered for malignant peripheral nerve sheath tumors (MPNSTs) and Ns, optic pathway gliomas, and bone dystrophic changes because they might improve quality of life. Further prospective studies, however, are needed to confirm the efficacy, safety, and cost/benefit ratio of new therapeutic approaches and the optimal timing for their use in patients with NF1.
journal_name
Curr Treat Options Neuroljournal_title
Current treatment options in neurologyauthors
Sabatini C,Milani D,Menni F,Tadini G,Esposito Sdoi
10.1007/s11940-015-0355-4subject
Has Abstractpub_date
2015-06-01 00:00:00pages
355issue
6eissn
1092-8480issn
1534-3138journal_volume
17pub_type
杂志文章abstract：:The elderly are the most rapidly growing segment of the population, and the incidence of epilepsy in persons over 65 is higher than in any other age group. In nursing homes, its incidence is even higher than in community-dwelling persons of similar ages. About 10% of nursing home residents are being treated with antie...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-008-0026-9
更新日期：2008-07-01 00:00:00
abstract：OPINION STATEMENT:Kleine-Levin Syndrome [KLS] is often under-recognized and also misdiagnosed. When suspicion for KLS is raised, a thorough clinical evaluation should be performed, including detailed history from family members and a neurologic and psychiatric examination. Additional studies may include PSG, EEG, neuro...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-016-0409-2
更新日期：2016-06-01 00:00:00
abstract：:Classic maple syrup disease can be managed to allow a benign neonatal course, normal growth, and low hospitalization rates. The majority of affected infants that are prospectively managed have good neurodevelopmental outcome; however, acute metabolic intoxication and neurologic deterioration can develop rapidly at any...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-003-0039-3
更新日期：2003-07-01 00:00:00
abstract：:Given our current knowledge, there is a need for the early institution of immunomodulatory therapy, especially for patients with poor prognostic factors (motor and cerebellar symptoms, frequent disease exacerbations, and a high level of activity on magnetic resonance imaging ). Patients who progress despite immunomodu...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-999-0004-x
更新日期：1999-07-01 00:00:00
abstract：OPINION STATEMENT:Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, a...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-016-0434-1
更新日期：2016-12-01 00:00:00
abstract：:The treatment of progressive myoclonus epilepsy (PME) remains a major therapeutic challenge in neurology. Generalized convulsive seizures are often well controlled through classic antiepileptic drugs (AEDs) like valproate and clonazepam, whereas myoclonus, the main symptom that is affecting patients most in their dail...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-002-0001-9
更新日期：2002-01-01 00:00:00
abstract：OPINION STATEMENT:Pervasive developmental disorders (PDDs), including autistic disorder (autism), Asperger's disorder, and pervasive developmental disorder not otherwise specified (PDD NOS), are neurodevelopmental disorders of childhood onset. These disorders persist throughout the lifespan of affected individuals and ...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-010-0091-8
更新日期：2010-11-01 00:00:00
abstract：PURPOSE OF REVIEW:Children surviving the pediatric intensive care unit (PICU) with neurologic illness or injury have long-term morbidities in physical, cognitive, emotional, and social functioning termed postintensive care syndrome (PICS). In this article, we review acute and longitudinal management strategies availabl...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-019-0586-x
更新日期：2019-09-27 00:00:00
abstract：OPINION STATEMENT:Narcolepsy is a severe, incurable, neurological disorder that is treated by pharmacological management of its symptoms. The main symptoms are excessive daytime sleepiness (EDS) and cataplexy, although addition symptoms that may require treatment include sleep paralysis, hypnagogic hallucinations, and ...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-015-0347-4
更新日期：2015-05-01 00:00:00
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journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-017-0473-2
更新日期：2017-09-21 00:00:00
abstract：:Subdural empyema represents loculated infection between the outermost layer of the meninges, the dura, and the arachnoid. The empyema may develop intracranially or in the spinal canal. Intracranial subdural empyema is most frequently a complication of sinusitis or, less frequently, otitis or neurosurgical procedures. ...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-003-0019-7
更新日期：2003-01-01 00:00:00
abstract：:Herpes simplex virus (HSV) infections are ubiquitous. Children are infected with HSV resulting in totally asymptomatic acquisition to life-threatening disease. Therapy of HSV diseases of children can be considered according to severity and time of acquisition. Neonatal herpes simplex virus infections take one of three...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-002-0040-2
更新日期：2002-05-01 00:00:00
abstract：:Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that usually results in death secondary to respiratory failure. The psychological reaction to the diagnosis of ALS in patient and caregiver has received increasing attention. Reports are highly variable as to the severity of depressive symptoms ...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-006-0030-x
更新日期：2006-09-01 00:00:00
abstract：:The challenge for the neurologist in the treatment of Lyme neuroborreliosis is not in the treatment per se, but in the diagnosis. Neurological manifestations of Lyme disease can present in many forms, and diagnostic techniques which detect the spirochete directly; the culture or polymerase chain reaction of the spiroc...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-005-0026-y
更新日期：2005-03-01 00:00:00
abstract：OPINION STATEMENT:Therapeutic hypothermia has proven neuroprotective effects in global cerebral ischemia. Indications for hypothermia induction include cardiac arrest and neonatal asphyxia. The two general methods of induced hypothermia are either surface cooling or endovascular cooling. Hypothermia should be induced a...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-012-0201-x
更新日期：2012-12-01 00:00:00
abstract：:The treatments for obstructive sleep apnea (OSA) described in this paper represent the latest information and data. Nasal continuous positive airway pressure, initially described in 1981, remains the cornerstone of therapy. Advances in mask interfaces, the use of humidification, the downloading of usage information, t...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-009-0038-0
更新日期：2009-09-01 00:00:00
abstract：:Non-rapid eye movement parasomnias are unique physical or experiential phenomena that disrupt sleep. Non-rapid eye movement parasomnias are common in children, but they typically outgrow them. Sleep-stage shifts caused by sleep-disordered breathing and associated arousals may be precipitating events for episodes of pa...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-004-0032-5
更新日期：2004-07-01 00:00:00
abstract：:Multiple pharmacologic treatments have been studied, but propranolol and primidone have proven to be the most effective medications. It is unlikely that a patient will respond miraculously to another medication if his or her response to propranolol and primidone is minimal. Some subsets of essential tremor, however, s...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-999-0027-3
更新日期：1999-03-01 00:00:00
abstract：OPINION STATEMENT:Infantile spasms (IS) represent a major therapeutic challenge, as cessation of spasms and normalization of the electroencephalogram (elimination of hypsarrhythmia) are mandatory to prevent cognitive deterioration in previously healthy infants, or to preserve neurocognitive function among those neurolo...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-012-0181-x
更新日期：2012-08-01 00:00:00
abstract：:Despite increasing recognition of childhood obstructive sleep apnea syndrome (OSAS) as a significant public health problem, treatment of the condition remains inconsistent. Some children are screened using polysomnography and treated only when objective respiratory disturbances are identified. Many others receive aden...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-005-0028-9
更新日期：2005-09-01 00:00:00
abstract：PURPOSE OF REVIEW:This review will examine the current evidence that genetic and/or epigenetic variation may influence the multiple sclerosis (MS) clinical course, phenotype, and measures of MS severity including disability progression and relapse rate. RECENT FINDINGS:There is little evidence that MS clinical phenoty...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-018-0505-6
更新日期：2018-04-24 00:00:00
abstract：OPINION STATEMENT:Melanoma-associated retinopathy is a rare paraneoplastic disorder that is challenging to diagnose and even more difficult to treat. Because of the rarity of the disease, therapy is based on analysis of case series and case reports. Based on evidence from these reports, first-line therapy is cytoreduct...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-009-0057-x
更新日期：2010-01-01 00:00:00
abstract：PURPOSE OF REVIEW:Sleep-related movement disorders (SRMD) include several different motor activities during sleep. Few of them are well known and well classified, whereas others are minor motor disorders of sleep which are neither thoroughly characterized and classified nor have been extensively investigated to clarify...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-019-0543-8
更新日期：2019-01-19 00:00:00
abstract：OPINION STATEMENT:The purpose of this review is to provide an overview of visual snow (VS) and provide information regarding current treatment options for VS. Visual snow (VS) is a rare disorder manifesting with a persistent visual phenomenon of seeing numerous tiny snow-like dots throughout the visual field, and it ca...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-017-0448-3
更新日期：2017-03-01 00:00:00
abstract：:A sleep history should be taken routinely in patients with epilepsy. Treatment of sleep disorders and improvement in sleep hygiene may improve seizure control, daytime cognitive functioning, and quality of life. Patients with recurrent sleepiness interfering with daily activities or an Epworth Sleepiness Scale score m...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-006-0017-7
更新日期：2006-07-01 00:00:00
abstract：:Allodynia is a normal part of the untreated migraine attack in most people with episodic migraine and is prevalent in chronic migraine. The extent to which allo-dynia contributes to the pain and disability of migraine attacks is unclear, as is its clinical importance. The presence of allodynia correlates with the seve...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-009-0001-0
更新日期：2009-01-01 00:00:00
abstract：:Arteriovenous malformations (AVM) are a leading cause of intracerebral hemorrhage, especially among the young. Because they pose a lifelong risk of serious bleeding, definitive treatment to obliterate the AVM should be pursued in the majority of patients. Microsurgical resection of a small AVM located in the superfici...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-002-0011-7
更新日期：2002-11-01 00:00:00
abstract：PURPOSE OF REVIEW:Idiopathic normal pressure hydrocephalus (iNPH) is a surgically treatable neurological disorder of the elderly population that is characterized by abnormal ventricular enlargement due to cerebrospinal fluid (CSF) accumulation and gait disturbance, cognitive impairment, or urinary incontinence. The obj...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-019-0604-z
更新日期：2019-12-03 00:00:00
abstract：:The treatment of complex partial seizure (CPS) begins with accurate diagnosis. Episodes of staring and unresponsiveness due to nonepileptic causes must be ruled out. Absence seizures (typical and atypical petit mal) must be considered because the treatment strategy and prognosis for these seizures are very different f...
journal_title：Current treatment options in neurology
pub_type： 杂志文章
doi：10.1007/s11940-999-0023-7
更新日期：1999-09-01 00:00:00
abstract：PURPOSE OF THE REVIEW:Psychosis is broadly defined as a disengagement from reality. It describes syndromes that impair both thought content and thought process. Psychosis negatively impacts an individual's quality of life, in addition to the families caring for them. Psychosis with different types of hallucinations and...
journal_title：Current treatment options in neurology
pub_type： 杂志文章,评审
doi：10.1007/s11940-019-0545-6
更新日期：2019-01-23 00:00:00
