Abstract:
OBJECTIVE:To identify the level of evidence for use of nusinersen to treat spinal muscular atrophy (SMA) and review clinical considerations regarding use. METHODS:The author panel systematically reviewed nusinersen clinical trials for patients with SMA and assigned level of evidence statements based on the American Academy of Neurology's 2017 therapeutic classification of evidence scheme. Safety information, regulatory decisions, and clinical context were also reviewed. RESULTS:Four published clinical trials were identified, 3 of which were rated above Class IV. There is Class III evidence that in infants with homozygous deletions or mutations of SMN1, nusinersen improves the probability of permanent ventilation-free survival at 24 months vs a well-defined historical cohort. There is Class I evidence that in term infants with SMA and 2 copies of SMN2, treatment with nusinersen started in individuals younger than 7 months results in a better motor milestone response and higher rates of event-free survival than sham control. There is Class I evidence that in children aged 2-12 years with SMA symptom onset after 6 months of age, nusinersen results in greater improvement in motor function at 15 months than sham control. Nusinersen was safe and well-tolerated. CLINICAL CONTEXT:Evidence of efficacy is currently highest for treatment of infantile- and childhood-onset SMA in the early and middle symptomatic phases. While approved indications for nusinersen use in North America and Europe are broad, payer coverage for populations outside those in clinical trials remain variable. Evidence, availability, cost, and patient preferences all influence decision-making regarding nusinersen use.
journal_name
Neurologyjournal_title
Neurologyauthors
Michelson D,Ciafaloni E,Ashwal S,Lewis E,Narayanaswami P,Oskoui M,Armstrong MJdoi
10.1212/WNL.0000000000006502subject
Has Abstractpub_date
2018-11-13 00:00:00pages
923-933issue
20eissn
0028-3878issn
1526-632Xpii
WNL.0000000000006502journal_volume
91pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract:OBJECTIVE:To investigate to what extent subjective memory complaints and APOE-epsilon4 allele carriage predict future cognitive decline in cognitively intact elderly persons, by evaluating both their separate and combined effects. METHODS:We selected 1,168 subjects from the population-based Longitudinal Aging Study Am...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.12.2217
更新日期:2001-12-26 00:00:00
abstract::Myoclonus--dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and a locus on chromosome 7q21-q31. The authors tested linkage to the chromosome 7q candidate region in four families with either myoclonic dystonia (n = 3) or essential myoc...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.56.9.1213
更新日期:2001-05-08 00:00:00
abstract::We report a Japanese boy with muscular dystrophy whose clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies. The patient had a large inframe deletion extending from exons 3 to 41 of the dystrophin gene, which would be expected to cause the production ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.44.9.1648
更新日期:1994-09-01 00:00:00
abstract:BACKGROUND:Plasma exchange (PE) is used to treat severe episodes of CNS demyelination unresponsive to corticosteroids. Predictors of long-term response are not well known. METHODS:We retrospectively reviewed the medical records of 41 patients consecutively treated by PE between January 1995 and July 2007. The primary ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181b879be
更新日期:2009-09-22 00:00:00
abstract:OBJECTIVE:To characterize the nature and degree of cognitive morbidity in patients with chronic temporal lobe epilepsy compared with healthy control subjects, determine the association between the duration of epilepsy and cognitive morbidity, and ascertain whether there are factors that moderate the association between...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000125186.04867.34
更新日期:2004-05-25 00:00:00
abstract:OBJECTIVE:To develop and evaluate a model for staging cortical amyloid deposition using PET with high generalizability. METHODS:Three thousand twenty-seven individuals (1,763 cognitively unimpaired [CU], 658 impaired, 467 with Alzheimer disease [AD] dementia, 111 with non-AD dementia, and 28 with missing diagnosis) fr...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000010256
更新日期:2020-09-15 00:00:00
abstract:OBJECTIVE:The natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency in adulthood is unknown; we elucidate the clinical manifestations of the disease later in life. METHODS:A 63-year-old man with long-standing intellectual disability was diagnosed with SSADH deficiency following hospitalization for ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001906
更新日期:2015-09-08 00:00:00
abstract:BACKGROUND:Natalizumab is an antibody directed against integrin alpha4 that reduces disease activity in patients with multiple sclerosis (MS) by blocking migration of T and B cells into the CNS. The goal of this study was to characterize the effects of natalizumab treatment on cytokine production and expression of acti...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181a8266f
更新日期:2009-06-02 00:00:00
abstract::The objective of this study was to clarify the clinical and radiologic features, risk factors, and prognosis of basilar embolism without permanent basilar artery occlusion. Forty-five patients (mean age, 59 years) with basilar artery embolism participated in the study. Patients with basilar artery occlusion were exclu...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.49.5.1346
更新日期:1997-11-01 00:00:00
abstract:OBJECTIVE:To study and provide an update on the state of clinical research in neurology in the United States. METHODS:US American Academy of Neurology members and chairs of departments of neurology were surveyed regarding clinical research in 2016. NIH data on the neuroscience pipeline and extramural grant funding wer...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000005295
更新日期:2018-04-10 00:00:00
abstract::Functional decline for each decade at symptom onset and need for cane, walker, or wheelchair were assessed in 78 biopsy-proved patients with sporadic inclusion body myositis. Patients with disease onset between 40 and 59 years used a walker after 10.2 +/- 5.8 years, whereas those with disease onset between 60 and 79 y...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.55.2.296
更新日期:2000-07-25 00:00:00
abstract:BACKGROUND:Silent infarcts are commonly discovered on cranial MRI in the elderly. OBJECTIVE:To examine the association between risk of stroke and presence of silent infarcts, alone and in combination with other stroke risk factors. METHODS:Participants (3,324) in the Cardiovascular Health Study (CHS) without a histor...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.7.1222
更新日期:2001-10-09 00:00:00
abstract:OBJECTIVE:To investigate the relationship between the presence of a circadian body temperature rhythm and behaviorally assessed consciousness levels in patients with disorders of consciousness (DOC; i.e., vegetative state/unresponsive wakefulness syndrome or minimally conscious state). METHODS:In a cross-sectional stu...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000003942
更新日期:2017-05-16 00:00:00
abstract::Seventy-one neonates were observed for the relationship between phenobarbital plasma concentrations and elimination of seizures. Sixty neonates (85%) had seizures controlled by phenobarbital alone. Effective plasma concentrations were 10.1 to 46.4 mg per liter. Although 36 neonates had seizures controlled by phenobarb...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.32.12.1401
更新日期:1982-12-01 00:00:00
abstract:OBJECTIVES:To determine the sensitivity and specificity of B-mode ultrasound in the diagnosis of neuromuscular diaphragmatic dysfunction, including phrenic neuropathy. METHODS:A prospective study of patients with dyspnea referred to the EMG laboratory over a 2-year time frame for evaluation of neuromuscular respirator...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000000841
更新日期:2014-09-30 00:00:00
abstract:OBJECTIVE:To determine the diagnostic accuracy of confrontation visual field testing and to compare the accuracy of confrontation tests both individually and in combination. METHODS:Patients were prospectively recruited from ophthalmology clinics over a 6-month period. All patients underwent SITA-standard 24-2 Humphre...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181d90017
更新日期:2010-04-13 00:00:00
abstract::Outcome after carpal tunnel surgery was studied retrospectively in 32 patients with peripheral neuropathy and carpal tunnel syndrome. Nocturnal paresthesias were almost universally relieved, followed in order of responsiveness by pain, numbness, and weakness. Twenty-five of 28 patients said they would have the surgery...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.49.4.1159
更新日期:1997-10-01 00:00:00
abstract::Migraine and the MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome have some clinical features in common. First, cerebral infarctions, most often in the posterior cerebral regions, which are a main symptom of MELAS, may complicate migraine. Second, migrainous headache w...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.46.6.1735
更新日期:1996-06-01 00:00:00
abstract::We report a longitudinal follow-up study on six patients with chronic manganese-induced parkinsonism following cessation of manganese exposure. Compared with the 1987 study, their parkinsonian symptoms showed a slow progression, particularly in gait disturbances such as freezing during turning and walking backward wit...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.43.8.1479
更新日期:1993-08-01 00:00:00
abstract::In children, seizures associated with status epilepticus (SE) include a number of types that are age-related. These types of seizures are not associated with SE in older patients. Likewise, etiologies of SE in children are also unique to this patient population, in particular those responsible for SE in the neonate. C...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:
更新日期:1990-05-01 00:00:00
abstract:OBJECTIVE:In children with sickle cell disease (SCD), silent cerebral infarcts are the most frequent cause of neurologic injury. We determined the sensitivity and specificity of selective neurocognitive measures when separating children with silent cerebral infarcts and SCD from sibling controls. Additionally, we teste...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.50.6.1678
更新日期:1998-06-01 00:00:00
abstract::All but 6% of the subjects with relapsing remitting MS who were randomly assigned to receive glatiramer acetate or placebo for the 9-month controlled phase of the European/Canadian MRI trial entered an open-label extension with quarterly clinical and MRI evaluations for another 9 months. There was a 54% reduction in t...
journal_title:Neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1212/wnl.59.8.1284
更新日期:2002-10-22 00:00:00
abstract::We initiated a double-blind, placebo-controlled trial to test the efficacy and safety of branched-chain amino acids (BCAA) (L-leucine 12 g, L-isoleucine 6 g, and L-valine 6 g daily) in amyotrophic lateral sclerosis (ALS) patients. There was an excess mortality in subjects randomized to active treatment (24 BCAA, 13 pl...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/wnl.43.12.2466
更新日期:1993-12-01 00:00:00
abstract::A 28-year-old nonimmunocompromised man developed secondary syphilis confirmed by serum and CSF findings. His course was complicated by chorioretinitis, extensive skin lesions, and spastic paraparesis secondary to syphilitic meningomyelitis. MRI of the spinal cord was strikingly abnormal. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.41.2_part_1.325
更新日期:1991-02-01 00:00:00
abstract::Unusual late-onset complications of brain irradiation, characterized by reversible neurologic focal signs, seizures, and MRI alterations, have recently been reported and classified as stroke-like migraine attacks after radiation therapy (SMART)(1) and peri-ictal pseudoprogression (PIPG).(2.) ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3182a43b1f
更新日期:2013-09-10 00:00:00
abstract:OBJECTIVE:To measure changes in psychometric state, neural activation, brain volume (BV), and cerebral metabolite concentrations during treatment of minimal hepatic encephalopathy. METHODS:As proof of principle, 22 patients with well-compensated, biopsy-proven cirrhosis of differing etiology and previous minimal hepat...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31828726e1
更新日期:2013-03-12 00:00:00
abstract::Significant evidence has accrued suggesting that antibodies to voltage-gated calcium channel are observed in at least some patients with sporadic ALS (SALS) and that such antibodies alter the function of these ion channels in vitro and in vivo. Further, passive transfer of these immunoglobulin-containing fractions int...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.47.4_suppl_2.40s
更新日期:1996-10-01 00:00:00
abstract::Family studies of primary torsion dystonia have used the diagnostic categories of definite, probable, and possible dystonia for gene mapping and identification, but the validity of this hierarchical classification is not known. The authors assessed 147 DYT1 GAG deletion carriers and 113 blood-related noncarriers from ...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/01.wnl.0000035630.12515.e0
更新日期:2002-12-10 00:00:00
abstract::Twenty-seven patients with static or worsening chronic inflammatory-demyelinating polyradiculoneuropathy were randomly assigned to alternate day decremental prednisone therapy alone or with azathioprine (2 mg/kg) for 9 months. No statistically significant alterations were demonstrated between these treatment schedules...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/wnl.35.8.1173
更新日期:1985-08-01 00:00:00
abstract:OBJECTIVE:To assess longitudinal follow-up of the incidence of multiple sclerosis (MS) through five decades and estimate the prevalence rate in Hordaland County, Norway, on January 1, 2003. METHODS:All patients with MS diagnosed from 1953 to 2003 were identified in the patient records of the Department of Neurology, H...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000195549.95448.b9
更新日期:2006-01-24 00:00:00