Abstract:
BACKGROUND:Late-onset Pompe disease (LOPD) is a rare, metabolic disease primarily affecting the musculoskeletal and respiratory systems. Forced vital capacity (FVC) is commonly used to measure pulmonary function; however, associations between FVC and other LOPD outcomes remain unclear. METHODS:A systematic literature review was conducted on November 2015, updated September 2016 and supplemented with clinical trial data from the sponsor. Outcomes included: 6-min walk test distance (6MWT), FVC, maximal inspiratory/expiratory pressure (MIP/MEP), Medical Research Council-skeletal muscle strength score (MRC), 36-item short-form survey-physical component score (SF-36), Rotterdam Handicap Scale (RHS), Fatigue Severity Scale (FSS) and survival. Individual patient data meta-analysis was used for cross-sectional analyses and longitudinal analyses to determine associations between percent of predicted FVC and LOPD measures and outcomes. RESULTS:Fifteen studies were selected. From cross-sectional analyses, FVC and MRC were most strongly associated. Specifically, patients with 10% higher FVC (a round number for illustrative purposes only) were associated with a 4.72% (95% confidence interval [CI]: 3.37, 6.07) higher MRC score, indicating a positive association. Similarly, slopes for the 6MWT and SF-36 relative to a 10% higher FVC were estimated at 33.2 meters (95% CI 24.0, 42.4) and 1.2% (95% CI 0.24, 2.16%), respectively. From longitudinal analyses, a 10% incremental increase in predicted FVC was associated with an average increase of 4.12% in MRC score (95% CI 1.29, 6.95), 35.6 m in the 6MWT (95% CI 19.9, 51.6), and 1.34% in SF-36 (95% CI 0.08, 2.60). There was insufficient data to conduct analyses for RHS, FSS and survival. CONCLUSIONS:FVC is positively associated with LOPD measures and outcomes across multiple domains. Additionally, longitudinal changes in FVC are positively associated with changes in the 6MWT, MRC and SF-36.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Berger KI,Kanters S,Jansen JP,Stewart A,Sparks S,Haack KA,Bolzani A,Siliman G,Hamed Adoi
10.1007/s00415-019-09401-1subject
Has Abstractpub_date
2019-09-01 00:00:00pages
2312-2321issue
9eissn
0340-5354issn
1432-1459pii
10.1007/s00415-019-09401-1journal_volume
266pub_type
杂志文章,meta分析abstract:OBJECTIVE:To investigate the efficacy of acupuncture on stroke recovery compared to an inert placebo. DESIGN:Placebo-controlled, randomised, clinical trial. SETTING:Post-stroke rehabilitation wards in five NHS hospitals in the UK. SUBJECTS:Patients between 4 and 10 days after their first stroke. INTERVENTIONS AND O...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-008-0790-1
更新日期:2008-06-01 00:00:00
abstract::Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age. Ischemic stroke may result from cardiac ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-011-6278-4
更新日期:2012-06-01 00:00:00
abstract::Multi-modality evoked potentials and computed cranial tomography (CT) were performed in ten patients with Wilson's disease to determine if any of these studies would correlate reliably with neurologic status. While all four patients with CT abnormality had neurologic signs, two additional patients with neurologic find...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314035
更新日期:1985-01-01 00:00:00
abstract::Decreased tongue strength (TS) might herald bulbar involvement in patients with amyotrophic lateral sclerosis (ALS) well before dysarthria or dysphagia occur, and as such might be prognostic of short survival. The purpose of this study was to investigate the prognostic value of a decreased TS, in addition to other pro...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-012-6503-9
更新日期:2012-11-01 00:00:00
abstract::To analyze the in vivo biological effect of anti-interferon beta (IFN-beta) neutralizing antibodies (NABs), blood concentrations of neopterin, beta2microglobulin (Beta2-MG), mRNA-dependent myxovirusresistant protein A (MxA) and dsRNA-dependent protein kinase (PKR) were measured before (predose) and 24 hours after (pos...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-006-0332-7
更新日期:2007-05-01 00:00:00
abstract::This article describes the clinical features of anterior semicircular canal benign paroxysmal positional vertigo (AC-BPPV) and a new therapeutic maneuver for its management. Our study was a retrospective review of cases from an ambulatory tertiary referral center. Thirteen patients afflicted with positional paroxysmal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5208-1
更新日期:2009-11-01 00:00:00
abstract::Two right-handed patients who exhibited language disability after left frontal infarction are described. The patients spoke fluently and exhibited excellent repetition ability from the onset of infarction without exhibiting any oral apraxia, but had deficits in auditory comprehension, naming, reading and writing. In b...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050180
更新日期:1998-02-01 00:00:00
abstract::Histopathological and magnetic resonance imaging (MRI) studies have shown white matter (WM) damage in early stages of multiple sclerosis (MS) beyond the apparent T2-hyperintense lesions. These changes in normal appearing WM (NAWM) are important with regard to the clinical picture and prognosis. However, the detection ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8156-6
更新日期:2016-08-01 00:00:00
abstract::Atrial fibrillation (AF) is considered a predictor for severe stroke and poor outcome. The aim was to evaluate whether AF is associated with poor outcome in acute ischemic stroke (IS) patients treated with intravenous thrombolysis (IVT). In a retrospective study, 157 consecutive IS patients (98 males, mean age 67.3 +/...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5452-4
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Dysphagia is estimated to occur in up to 50% of the stroke neurorehabilitation population. Those patients with severe neurogenic oropharyngeal dysphagia (NOD) may receive feeding gastrostomy tubes (FGT) if noninvasive therapies prove ineffective in eliminating aspiration or sustaining adequate nu...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-005-0906-9
更新日期:2005-12-01 00:00:00
abstract::The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, di...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00856805
更新日期:1992-10-01 00:00:00
abstract::Eye movements were studied in 13 patients with Friedreich's ataxia and correlated with MRI findings to investigate whether oculomotor abnormalities can be traced to cerebellar disturbances in this disease. One of the most prominent eye signs was fixation instability (square-wave jerks, SWJ.). Besides SWJ the patients ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00867423
更新日期:1995-08-01 00:00:00
abstract::Global aphasia is described as a unitary syndrome which is characterized by a severe impairment of all linguistic capabilities. Speech production is extremely limited and consists of stereotyped phrases, recurring utterances or a few isolated words which are usually neologistically distorted. The patients are unable t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF02430346
更新日期:1977-01-13 00:00:00
abstract::The transcranial activation and the conduction properties of corticospinal and callosal neurons were investigated in 12 early-treated adolescents (aged 17.3, SD 3.5 years; range 14-27 years) with phenylketonuria (PKU) by focal transcranial magnetic stimulation (fTMS) of the motor cortex. The patients had no functional...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050301
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND:Little is known about the change in prevalence of comorbidities during the disease course of people with multiple sclerosis (MS) and whether the prevalences vary by MS onset type. OBJECTIVE:To calculate the change in prevalence of comorbidities between symptom onset and the time of study, to compare the pre...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10194-x
更新日期:2020-09-03 00:00:00
abstract::This short review summarizes epilepsy papers published in the Journal of Neurology in 2009, covering pathophysiology (inflammation; propagation pathways), new treatments (oxcarbazepine in paediatrics; levetiracetam in status epilepticus), and non-seizure outcomes (violence; foetal/pregnancy). ...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-010-5740-z
更新日期:2010-11-01 00:00:00
abstract:OBJECTIVE:Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8790-2
更新日期:2018-05-01 00:00:00
abstract::The fluctuation in daily performance of Parkinson patients on long-term L-dopa therapy is known as the so called "off-on" phenomenon. Cotzias et al. found that a low protein diet is able to control this phenomenon in patients taking L-dopa alone but not in those receiving a combination of L-dopa and decarboxylase inhi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00312550
更新日期:1977-04-28 00:00:00
abstract::We conducted an open-labeled clinical trial of interferon beta-1b (IFNB) treatment in 20 patients with primary progressive multiple sclerosis (PPMS) and longitudinally monitored autoantibodies against double-stranded DNA (dsDNA), thyroid peroxidase (TPO),myelin basic protein (MBP), myelin oligodendrocyte glycoprotein ...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-004-0580-3
更新日期:2004-12-01 00:00:00
abstract::The development of Guillain-Barré syndrome is reported in a patient, who had previously received botulinum toxin type A injections into both orbicularis oculi muscles to treat idiopathic blepharospasm. The possibility of a causal relationship is discussed with consideration of the literature on adverse effects of vacc...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00319673
更新日期:1990-02-01 00:00:00
abstract::Muscle glucose-6-phosphate dehydrogenase (G6PD) deficiency is described in four clinically heterogeneous patients: an athlete who developed myoglobinuria after physical exercise; a 7-year-old, mildly mentally retarded boy, who had episodes of dark urine and high creatine kinase; and two brothers of Sardinian origin, t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314498
更新日期:1989-05-01 00:00:00
abstract::The pathogenesis of myopathies occurring in critically ill patients (critical illness myopathy, CIM) is poorly understood. Both local and systemic responses to sepsis and other severe insults to the body are presumed to be involved but the precise mechanisms by which muscle function is impaired are far from clear. To ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0272-z
更新日期:2004-01-01 00:00:00
abstract::Parkinson's disease (PD) is preceded by a premotor phase of unknown duration. Dopaminergic degeneration during this phase may lead to subtle cognitive and behavioural changes, such as decreased novelty seeking. Consequently, premotor subjects might be most comfortable in jobs that do not require optimal dopamine level...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-015-7828-y
更新日期:2015-09-01 00:00:00
abstract::The electrically elicited blink reflex was investigated in 25 patients with ischaemic lesions of the pons or the medulla oblongata. Only patients with a lesion on MRI appropriate to the clinical syndrome were included. Twenty patients had an infarction of the pons, bilateral in 5. Additional 5 patients had an infarcti...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00870670
更新日期:1993-11-01 00:00:00
abstract:BACKGROUND:Volume loss in the deep gray matter (DGM) has been reported in patients with multiple sclerosis (MS) already at early stages of the disease and is thought to progress throughout the disease course. OBJECTIVE:To investigate the impact and predictive value of volume loss in DGM and thalamic subnuclei on disab...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09740-4
更新日期:2020-05-01 00:00:00
abstract::Several viruses have the capacity to cause serious infections of the nervous system in patients who are immunosuppressed. Individuals may be immunosuppressed because of primary inherited immunodeficiency, secondary immunodeficiency due to particular diseases such as malignancy, administration of immunosuppressant drug...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10265-z
更新日期:2020-10-13 00:00:00
abstract::Using high-performance liquid chromatography, adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were diagnosed by the analysis of fatty acids in sphingomyelin. The analytical method was simple, sensitive and accurate. In ALD and AMN patients, very long chain fatty acids (C26:0, C25:0 and C24:0 on the base of ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313696
更新日期:1983-01-01 00:00:00
abstract::The neurochemical abnormalities underlying vascular parkinsonism (VP) have not been well characterised. A better understanding may help to optimize pharmacological interventions. Since VP patients generally have a poorer response to l-Dopa than Parkinson's disease (PD) patients, we investigated whether levels of relev...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7126-5
更新日期:2013-12-01 00:00:00
abstract::Adolescent-onset spastic ataxia is a proposed novel phenotype in compound heterozygous carriers of an intronic mutation (c.1909 + 22G > A) in the POLR3A gene. Here, we present ten new cases of POLR3A-related spastic ataxia and discuss the genetic, clinical and imaging findings. Patients belonged to six pedigrees with ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09574-9
更新日期:2020-02-01 00:00:00
abstract::The objective of this study was to assess the effect of secukinumab, a monoclonal antibody that inhibits interleukin (IL)-17A, on number of new active brain magnetic resonance imaging (MRI) lesions in subjects with relapsing-remitting multiple sclerosis (MS). Subjects (N = 73) were randomized 1:1 to secukinumab 10 mg/...
journal_title:Journal of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00415-016-8128-x
更新日期:2016-07-01 00:00:00