Spinal muscular atrophy: advances in research and consensus on care of patients.


:Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons and muscular atrophy. Advances in recent research have led to understanding of the molecular genetics of SMA. Therapeutic strategies have been developed according to the unique genomic structure of the SMN genes. Three groups of compounds have been identified as therapeutic candidates. One group was identified before the molecular genetics of SMA was understood, chosen on the basis of their effectiveness in similar neurologic disorders. The second group was identified based on their ability to modify SMN2 gene expression. Several of these agents are currently in clinical trials. A third group, identified by large-scale drug screening, is still under preclinical investigation. In addition, other advances in medical technology have led to the publication of a consensus statement regarding the care of SMA patients.


Wang CH,Lunn MR




Has Abstract


2008-11-01 00:00:00












  • Cannabinoids for the Treatment of Movement Disorders.

    abstract:OPINION STATEMENT:Use of cannabinoids as medications has a long history. Unfortunately, the prohibition of cannabis and its classification in 1970 as a schedule 1 drug has been a major obstacle in studying these agents in a systematic, controlled manner. The number of class 1 studies (randomized, double-blind, placebo-...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Catlow B,Sanchez-Ramos J

    更新日期:2015-09-01 00:00:00

  • Orthostatic Hypotension in Multiple System Atrophy.

    abstract::There is no known way to cure multiple system atrophy or even to slow its insidious progression, but there are opportunities to treat many of its symptoms and complications. Of all the autonomic disturbances it causes, orthostatic hypotension is associated with one of the better chances for successful intervention. Mi...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Riley DE

    更新日期:2000-05-01 00:00:00

  • Modern treatment options for intracerebral hemorrhage.

    abstract::Spontaneous intracerebral hemorrhage (ICH) is a devastating neurological event with a 30-day mortality of approximately 40%. Recent research provides new insights into the pathophysiology of ICH-associated edema, with potential molecular and cellular targets for future therapy. Neuroimaging techniques such as gradient...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Freeman WD,Brott TG

    更新日期:2006-03-01 00:00:00

  • Lysosomal Storage Diseases.

    abstract::Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (B...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Kaye EM

    更新日期:2001-05-01 00:00:00

  • Allodynia as a complication of migraine: background and management.

    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


    authors: Young WB

    更新日期:2009-01-01 00:00:00

  • Acute and recurrent viral meningitis.

    abstract::Acute viral meningitis is the most common infection of the central nervous system. Most cases occur in children and young adults and are due to enteroviruses. Although the common causes of acute viral meningitis still lack treatment with an effective antiviral agent, management of patients is changing because of bette...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Davis LE

    更新日期:2008-05-01 00:00:00

  • Cerebral Palsy.

    abstract::The neurorehabilitation program for cerebral palsy changes over time. During the first 2 years of life, an infant stimulation program with an emphasis on more than just improving motor deficits is emphasized. The importance of involvement of a knowledgeable therapist cannot be overemphasized. Realistic expectations mu...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Russman BS

    更新日期:2000-03-01 00:00:00

  • Update on therapy for narcolepsy.

    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


    authors: Thorpy MJ

    更新日期:2015-05-01 00:00:00

  • Non-Rapid Eye Movement Parasomnias.

    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


    authors: Farid M,Kushida CA

    更新日期:2004-07-01 00:00:00

  • Therapeutic Approaches in CLIPPERS.

    abstract:OPINION STATEMENT:CLIPPERS for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, is a steroid-sensitive and steroid-dependent brainstem inflammatory disease of unknown origin. Since its first description in 2010, about 60 cases have been reported throughout the world. The me...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章,评审


    authors: Taieb G,Allou T,Labauge P

    更新日期:2017-05-01 00:00:00

  • Neuromyelitis Optica.

    abstract::Neuromyelitis optica (Devic's syndrome) is an uncommon, idiopathic, demyelinating syndrome of the central nervous system that preferentially affects the optic nerves and spinal cord. It frequently is misdiagnosed as severe multiple sclerosis, but usually is readily distinguished from multiple sclerosis in fully develo...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Wingerchuk DM,Weinshenker BG

    更新日期:2005-05-01 00:00:00

  • Thrombolysis in the Treatment of Acute Ischemic Stroke.

    abstract::Unfortunately, intravenous alteplase, when administered within 3 hours of symptom onset, remains the only US Food and Drug Administration-approved treatment for acute ischemic stroke; it is now 7 years since its approval. Intra-arterial thrombolysis of middle cerebral and basilar artery occlusions within 6 hours of st...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Haley EC

    更新日期:2003-09-01 00:00:00

  • Cholesterol lowering to prevent stroke: who, when, and how?

    abstract::The epidemiologic link between increased low-density-lipoprotein (LDL) cholesterol and ischemic stroke is controversial. However, recent trials make it clear that LDL reduction by statin agents in high-risk patients reduces the risk of ischemic stroke. The risk of first stroke is reduced within 1 to 2 years of statin ...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Bernstein RA

    更新日期:2006-11-01 00:00:00

  • Treatment Opportunities in Patients With Metabolic Myopathies.

    abstract::Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章,评审


    authors: Ørngreen MC,Vissing J

    更新日期:2017-09-21 00:00:00

  • Epilepsy and sleep.

    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


    authors: Herman ST

    更新日期:2006-07-01 00:00:00

  • Postintensive Care Syndrome in Pediatric Critical Care Survivors: Therapeutic Options to Improve Outcomes After Acquired Brain Injury.

    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


    authors: Williams CN,Hartman ME,Guilliams KP,Guerriero RM,Piantino JA,Bosworth CC,Leonard SS,Bradbury K,Wagner A,Hall TA

    更新日期:2019-09-27 00:00:00

  • One Giant Step for Giant Cell Arteritis: Updates in Diagnosis and Treatment.

    abstract:Purpose of Review:Giant cell arteritis (GCA), a medium and large vessel vasculitis occurring in the aged, remains a formidable disease, capable of taking both vision and life, through a multitude of vascular complications. Our understanding of the spectrum of its manifestations has grown over the years, to include limb...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章,评审


    authors: Dinkin M,Johnson E

    更新日期:2021-01-01 00:00:00

  • Invited Commentary on Preventive Anti-Migraine Therapy (PAMT).

    abstract::Migraine is a chronic paroxysmal neurological disorder characterized by multiphase attacks of head pain and a myriad of neurological symptoms. Chronic migraine causes a great personal and societal burden. Many patients are poorly responsive to, or non-compliant with, conventional migraine preventive therapies. For thi...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章,评审


    authors: Jain S,Silberstein SD

    更新日期:2019-03-14 00:00:00

  • Acute Disseminated Encephalomyelitis.

    abstract::There is no standard therapy for acute disseminated encephalomyelitis (ADEM), and treatments are based on the analogy of the pathogenesis of ADEM with that of multiple sclerosis (MS), namely an inflammatory perivenular demyelination. High-dose intravenous corticosteroids, such as methylprednisolone, at a dosage standa...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Tselis A

    更新日期:2001-11-01 00:00:00

  • Treatment of melanoma-associated retinopathy.

    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


    authors: Powell SF,Dudek AZ

    更新日期:2010-01-01 00:00:00

  • Vagus Nerve Stimulation As Treatment for Epileptic Seizures.

    abstract::Vagus nerve stimulation is a unique therapy for epileptic seizures. Two randomized controlled trials in patients with medically refractory partial seizures have demonstrated efficacy, leading to US Food and Drug Administration approval of vagus nerve stimulation therapy in 1997. Extensive safety testing has not reveal...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Salinsky MC

    更新日期:2003-03-01 00:00:00

  • Treatment of neurofibromatosis type 1.

    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 t...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Sabatini C,Milani D,Menni F,Tadini G,Esposito S

    更新日期:2015-06-01 00:00:00

  • Depression and quality of life issues in patients with amyotrophic lateral sclerosis.

    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


    authors: Stromberg SF,Weiss DB

    更新日期:2006-09-01 00:00:00

  • Pharmacologic treatment of behavioral symptoms associated with autism and other pervasive developmental disorders.

    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


    authors: Wink LK,Erickson CA,McDougle CJ

    更新日期:2010-11-01 00:00:00

  • Cervicocranial arterial dissection.

    abstract::Cervicocranial arterial dissection (CCAD) occurs when there is a tear in the intimal layer of the carotid or vertebral arteries with subsequent extravasation of blood into the subintimal layers. The dissection may be extradural, intradural, or extend over both segments. The contents of the subintimal layers are highly...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Shah Q,Messé SR

    更新日期:2007-01-01 00:00:00

  • Progressive Myoclonic Epilepsies.

    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


    authors: Uthman BM,Reichl A

    更新日期:2002-01-01 00:00:00

  • Transcranial direct current stimulation for major depression: a general system for quantifying transcranial electrotherapy dosage.

    abstract::There has been a recent resurgence of interest in therapeutic modalities using transcranial weak electrical stimulation through scalp electrodes, such as trans-cranial direct current stimulation (tDCS), as a means of experimentally modifying and studying brain function and possibly treating psychiatric conditions. A r...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Bikson M,Bulow P,Stiller JW,Datta A,Battaglia F,Karnup SV,Postolache TT

    更新日期:2008-09-01 00:00:00

  • Red Blood Cell Transfusion and Transfusion Alternatives in Traumatic Brain Injury.

    abstract::OPINION STATEMENT: Anemia develops in about 50% of patients hospitalized with traumatic brain injury (TBI) and is recognized as a cause of secondary brain injury. This review examines the effects of anemia and transfusion on TBI patients through a literature search to identify original research on anemia and transfusi...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章


    authors: Kramer AH,Le Roux P

    更新日期:2012-04-01 00:00:00

  • Essential Tremor.

    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


    authors: Lambert D,Waters CH

    更新日期:1999-03-01 00:00:00

  • Current Update on Treatment Strategies for Idiopathic Normal Pressure Hydrocephalus.

    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


    authors: Isaacs AM,Williams MA,Hamilton MG

    更新日期:2019-12-03 00:00:00