Abstract:
IMPORTANCE:Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and without comparison with the natural course of the disease. OBJECTIVE:To compare the long-term outcome of patients who underwent allogeneic HSCT with control patients who did not among a cohort with juvenile MLD. DESIGN, SETTING, AND PARTICIPANTS:Patients with juvenile MLD born between 1975 and 2009 and who received HSCT at a median age of 7 years (age range, 1.5-18.2 years) and nontransplanted patients with juvenile MLD born between 1967 and 2007 were included in this case-control study. The median follow-up after HSCT was 7.5 years (range, 3.0-19.7 years). Patients underwent HSCT at 3 German centers between 1991 and 2012. The analysis was done between July 2014 and August 2015. MAIN OUTCOMES AND MEASURES:Survival and transplantation-related mortality, loss of gross motor function (Gross Motor Function Classification in MLD), loss of any language function, and magnetic resonance imaging (MRI) severity score for cerebral changes. To explore prognostic factors at baseline, patients who underwent HSCT (hereafter, transplanted patients) were a priori divided into stable vs progressive disease, according to gross motor and cognitive function. RESULTS:Participants were 24 transplanted patients (11 boys, 13 girls) and 41 control patients (22 boys, 19 girls) who did not receive transplantation (hereafter, nontransplanted patients) with juvenile MLD. Among the transplanted patients, 4 children died of transplantation-related mortality, and 2 additional children died of rapid MLD progression 1.5 and 8.6 years after HSCT, resulting in a 5-year survival of 79% (19 of 24). Among the nontransplanted patients, 5-year survival after disease onset was 100% (41 of 41). However, 11 died of MLD progression, resulting in similar overall survival within the observation period. Nine of the long-term survivors after HSCT had disease progression, while 11 showed stable disease. Compared with the nontransplanted patients, the transplanted patients were less likely to lose their gross motor or language function and demonstrated significantly lower MRI severity scores at the latest examination. Patients after HSCT were more likely to have a stable disease course when undergoing HSCT at an early stage with no or only mild gross motor deficits (Gross Motor Function Classification in MLD level 0 or 1) and an IQ of at least 85, when age at disease onset was older than 4 years, or when MRI severity scores were low (preferably ≤17). CONCLUSIONS AND RELEVANCE:Among patients with juvenile MLD, patients who underwent HSCT had a better gross motor and language outcome and lower MRI severity scores compared with nontransplanted patients. Transplantation at a presymptomatic or early symptomatic stage of juvenile MLD is associated with a reasonable chance for disease stabilization.
journal_name
JAMA Neuroljournal_title
JAMA neurologyauthors
Groeschel S,Kühl JS,Bley AE,Kehrer C,Weschke B,Döring M,Böhringer J,Schrum J,Santer R,Kohlschütter A,Krägeloh-Mann I,Müller Idoi
10.1001/jamaneurol.2016.2067subject
Has Abstractpub_date
2016-09-01 00:00:00pages
1133-40issue
9eissn
2168-6149issn
2168-6157pii
2532819journal_volume
73pub_type
杂志文章相关文献
JAMA Neurology文献大全abstract:IMPORTANCE:Hematoma volume is the strongest predictor of outcome in intracerebral hemorrhage (ICH). Despite known differences in the underlying biology between deep and lobar ICHs, limited data are available on location specificity of factors reported to affect hematoma volume. OBJECTIVE:To evaluate whether determinan...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.98
更新日期:2013-08-01 00:00:00
abstract:IMPORTANCE:Symptoms in the genital region, such as pain, discomfort, tingling, and burning sensations, have rarely been reported in Parkinson disease (PD), and the previous cases were attributed to nonmotor off symptoms. We report a patient with PD and severe genital discomfort unrelated to motor fluctuations but compa...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2014.1326
更新日期:2014-12-01 00:00:00
abstract:Importance:In Huntington disease (HD), mutation severity is defined by the length of the CAG trinucleotide sequence, a well-known predictor of clinical onset age. The association with disease trajectory is less well characterized. Quantifiable summary measures of trajectory applicable over decades of early disease prog...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2019.2368
更新日期:2019-08-12 00:00:00
abstract:Importance:Intracerebral hemorrhage (ICH) has the highest mortality of all stroke types and is the most serious complication of anticoagulation. Data regarding trends in ICH incidence and location-specific risk factors on the population level are conflicting. Objective:To assess long-term population-based trends in th...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2020.1512
更新日期:2020-06-08 00:00:00
abstract:IMPORTANCE:The clinical role of amyloid brain positron emission tomographic imaging in the diagnosis of Alzheimer disease is currently being formulated. The specificity of a positive amyloid scan is a matter of contention. OBSERVATIONS:An 83-year-old Canadian man presented with a 5-year history of predominantly short-...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.420
更新日期:2013-07-01 00:00:00
abstract:Importance:The development and expansion of intracranial hematoma are associated with adverse outcomes. Use of tranexamic acid might limit intracranial hematoma formation, but its association with outcomes of severe traumatic brain injury (TBI) is unclear. Objective:To assess whether prehospital administration of tran...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2020.4596
更新日期:2020-12-07 00:00:00
abstract:IMPORTANCE:Alzheimer disease (AD) is a neurodegenerative disorder with no effective therapies. In 1984, the National Institute on Aging created the first 5 AD centers (ADCs) in an effort to coordinate research efforts into the pathology and treatment of the disease. Since that time, the ADC program has expanded to incl...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.6225
更新日期:2014-04-01 00:00:00
abstract:IMPORTANCE:Progressive multifocal leukoencephalopathy results from lytic infection of the glia by the JC polyomavirus (JCV); JCV granule cell neuronopathy is caused by infection with a mutated form of JCV, leading to a shift in viral tropism from the glia to cerebellar granule cells. This shift results in a clinical sy...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.4668
更新日期:2014-04-01 00:00:00
abstract:IMPORTANCE:While advances have been made in characterizing the C9ORF72 clinical phenotype, the hallmark features that discriminate between carriers and noncarriers remain unclear. OBJECTIVES:To determine the frequency of the C9ORF72 mutation in a frontotemporal dementia (FTD) cohort and to define the clinical, neurops...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.6002
更新日期:2014-03-01 00:00:00
abstract:IMPORTANCE:Many clinical trials focus on restricting hematoma expansion following acute intracerebral hemorrhage (ICH), but selecting those patients at highest risk of hematoma expansion is challenging. OBJECTIVE:To develop a prediction score for hematoma expansion in patients with primary ICH. DESIGN, SETTING, AND P...
journal_title:JAMA neurology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaneurol.2013.5433
更新日期:2014-02-01 00:00:00
abstract:IMPORTANCE:Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune inflammatory disorder of the central nervous system. Recently, various immunosuppressant medications were introduced as therapeutic options for preventing relapse of NMOSD. However, our understanding of the effectiveness of mycophenolate mofetil...
journal_title:JAMA neurology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaneurol.2014.2057
更新日期:2014-11-01 00:00:00
abstract:IMPORTANCE:Magnetic resonance imaging markers of incipient cognitive decline among healthy elderly individuals have become important for both clarifying the biological underpinnings of dementia and clinically identifying healthy individuals at high risk of cognitive decline. Even though the role of hippocampal atrophy ...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.3263
更新日期:2013-11-01 00:00:00
abstract:IMPORTANCE:Limbic encephalitis that is associated with anti-voltage-gated potassium channel complex (VGKCC) antibodies (VGKCC syndrome) is an autoimmune, usually nonparaneoplastic form of encephalitis that is responsive to immunotherapy. Differentiating this treatable disease from others that have a similar presentatio...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.5179
更新日期:2014-01-01 00:00:00
abstract:Importance:Endovascular therapy (ET) is typically not considered for patients with large baseline ischemic cores (irreversibly injured tissue). Computed tomographic perfusion (CTP) imaging may identify a subset of patients with large ischemic cores who remain at risk for significant infarct expansion and thus could sti...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2016.3954
更新日期:2017-01-01 00:00:00
abstract:IMPORTANCE:Here we report a family with coexistence of multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS) with hexanucleotide repeat expansions in C9orf72. OBSERVATIONS:A 65-year-old woman had a 2-year history of ataxia with autonomic dysfunction but without motor neuron signs. She was diagnosed as ...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.5762
更新日期:2014-06-01 00:00:00
abstract:IMPORTANCE:β-Amyloid (Aβ) deposition and vascular brain injury (VBI) frequently co-occur and are both associated with cognitive decline in aging. Determining whether a direct relationship exists between them has been challenging. We sought to understand VBI's influence on cognition and clinical impairment, separate fro...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/2013.jamaneurol.405
更新日期:2013-04-01 00:00:00
abstract:Importance:Functional neurological disorders (FND) are common sources of disability in medicine. Patients have often been misdiagnosed, correctly diagnosed after lengthy delays, and/or subjected to poorly delivered diagnoses that prevent diagnostic understanding and lead to inappropriate treatments, iatrogenic harm, un...
journal_title:JAMA neurology
pub_type: 杂志文章,评审
doi:10.1001/jamaneurol.2018.1264
更新日期:2018-09-01 00:00:00
abstract:IMPORTANCE:Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. OBJECTIVE:To present the prevalence and distribution of HCA and HSP in Portugal. DESIGN AND SETTING:Population-based, nationwide, systematic survey, from January 1, 1994, through April 15, 2004, i...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2013.1707
更新日期:2013-06-01 00:00:00
abstract:IMPORTANCE:To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE:To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN...
journal_title:JAMA neurology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaneurol.2013.2311
更新日期:2013-06-01 00:00:00
abstract:IMPORTANCE:Gait and cognition have been related to mortality in population-based studies. This association is possibly mediated by cerebral small vessel disease (SVD), which has been associated with mortality as well. It is unknown which factors can predict mortality in individuals with SVD. Identification of high-risk...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2015.4560
更新日期:2016-04-01 00:00:00
abstract:Importance:Prognostication of neurologic outcome after cardiac arrest is an important but challenging aspect of patient therapy management in critical care units. Objective:To determine whether serum neurofilament light chain (NFL) levels can be used for prognostication of neurologic outcome after cardiac arrest. Des...
journal_title:JAMA neurology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaneurol.2018.3223
更新日期:2019-01-01 00:00:00
abstract:Importance:YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. Objectives:To review the clinical...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2016.4357
更新日期:2017-06-01 00:00:00
abstract:IMPORTANCE:Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. ...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2014.56
更新日期:2014-09-01 00:00:00
abstract:IMPORTANCE:Cerebral microbleeds (CMBs) have been established as an independent predictor of cerebral bleeding. There are contradictory data regarding the potential association of CMB burden with the risk of symptomatic intracerebral hemorrhage (sICH) in patients with acute ischemic stroke (AIS) treated with intravenous...
journal_title:JAMA neurology
pub_type: 杂志文章,meta分析
doi:10.1001/jamaneurol.2016.0292
更新日期:2016-06-01 00:00:00
abstract:Importance:The goal of Alzheimer disease (AD) prevention together with advances in understanding the pathophysiology of AD have led to clinical trials testing drugs in cognitively unimpaired persons who show evidence of AD biomarkers. Data are needed to inform the processes of describing AD biomarkers to cognitively no...
journal_title:JAMA neurology
pub_type: 杂志文章,多中心研究
doi:10.1001/jamaneurol.2017.2954
更新日期:2018-01-01 00:00:00
abstract:Importance:Spontaneous intracranial hypotension (SIH) is a highly disabling but often misdiagnosed disorder. The best management options for patients with SIH are still uncertain. Objective:To provide an objective summary of the available evidence on the clinical presentation, investigations findings, and treatment ou...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2020.4799
更新日期:2021-01-04 00:00:00
abstract:IMPORTANCE:Double-seronegative myasthenia gravis (dSNMG) includes patients with myasthenia gravis (MG) without detectable antibodies to the nicotinic acetylcholine receptor (AChR) or to muscle-specific tyrosine kinase (MuSK). The lack of a biomarker hinders the diagnosis and clinical management in these patients. Corta...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2016.2032
更新日期:2016-09-01 00:00:00
abstract:IMPORTANCE:Converging evidence suggests that Alzheimer disease (AD) involves insulin signaling impairment. Patients with AD and individuals at risk for AD show reduced glucose metabolism, as indexed by fludeoxyglucose F 18-labeled positron emission tomography (FDG-PET). OBJECTIVES:To determine whether insulin resistan...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2015.0613
更新日期:2015-09-01 00:00:00
abstract:Importance:Although levodopa remains the most effective oral pharmacotherapy for Parkinson disease (PD), its use is often limited by wearing off effect and dyskinesias. Management of such complications continues to be a significant challenge. Objective:To investigate the efficacy and safety of safinamide (an oral amin...
journal_title:JAMA neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1001/jamaneurol.2016.4467
更新日期:2017-02-01 00:00:00
abstract:IMPORTANCE:Progressive external ophthalmoplegia (PEO) is a common feature in adults with mitochondrial (mt) DNA maintenance disorders associated with somatic mtDNA deletions in muscle, yet the causal genetic defect in many patients remains undetermined. OBSERVATIONS:Whole-exome sequencing identified a novel, heterozyg...
journal_title:JAMA neurology
pub_type: 杂志文章
doi:10.1001/jamaneurol.2014.1753
更新日期:2015-01-01 00:00:00