Abstract:
OBJECTIVE:Widespread metabolic changes are seen in neurodegenerative disease and could be used as biomarkers for diagnosis and disease monitoring. They may also reveal disease mechanisms that could be a target for therapy. In this study we looked for blood-based biomarkers in syndromes associated with frontotemporal lobar degeneration. METHODS:Plasma metabolomic profiles were measured from 134 patients with a syndrome associated with frontotemporal lobar degeneration (behavioural variant frontotemporal dementia n = 30, non fluent variant primary progressive aphasia n = 26, progressive supranuclear palsy n = 45, corticobasal syndrome n = 33) and 32 healthy controls. RESULTS:Forty-nine of 842 metabolites were significantly altered in frontotemporal lobar degeneration syndromes (after false-discovery rate correction for multiple comparisons). These were distributed across a wide range of metabolic pathways including amino acids, energy and carbohydrate, cofactor and vitamin, lipid and nucleotide pathways. The metabolomic profile supported classification between frontotemporal lobar degeneration syndromes and controls with high accuracy (88.1-96.6%) while classification accuracy was lower between the frontotemporal lobar degeneration syndromes (72.1-83.3%). One metabolic profile, comprising a range of different pathways, was consistently identified as a feature of each disease versus controls: the degree to which a patient expressed this metabolomic profile was associated with their subsequent survival (hazard ratio 0.74 [0.59-0.93], p = 0.0018). CONCLUSIONS:The metabolic changes in FTLD are promising diagnostic and prognostic biomarkers. Further work is required to replicate these findings, examine longitudinal change, and test their utility in differentiating between FTLD syndromes that are pathologically distinct but phenotypically similar.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Murley AG,Jones PS,Coyle Gilchrist I,Bowns L,Wiggins J,Tsvetanov KA,Rowe JBdoi
10.1007/s00415-020-09824-1subject
Has Abstractpub_date
2020-08-01 00:00:00pages
2228-2238issue
8eissn
0340-5354issn
1432-1459pii
10.1007/s00415-020-09824-1journal_volume
267pub_type
杂志文章abstract::Three families are described which include members with "typical" Friedreich's disease (FD) and others who are ataxic but do not satisfy all the diagnostic criteria for that disease. In family A two patients have an early-onset, rapidly progressive FD, while two others have a late-onset, more benign form. In families ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00319681
更新日期:1991-06-01 00:00:00
abstract::Early identification of cardiogenic vertigo (CV) is necessary to prevent serious complications of cardiovascular diseases. However, the literature is limited to case reports without detailed clinical features or diagnostic criteria. The aim of this study was to define characteristics of CV and propose diagnostic crite...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10252-4
更新日期:2020-10-06 00:00:00
abstract::The last 5 years have seen rapid progress in Parkinson’s disease (PD) genetics, with the publication of a series of large-scale genome wide association studies for PD, and evaluation of the roles of the LRRK2 and GBA genes in the aetiology of PD. We are beginning to develop a coherent picture of the interplay of Mende...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-013-7003-2
更新日期:2014-02-01 00:00:00
abstract::SARS-CoV2 infection is responsible for a complex clinical syndrome, named Coronavirus Disease 2019 (COVID-19), whose main consequences are severe pneumonia and acute respiratory distress syndrome. Occurrence of acute and subacute neurological manifestations (encephalitis, stroke, headache, seizures, Guillain-Barrè syn...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-10131-y
更新日期:2020-08-27 00:00:00
abstract::Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variable clinical phenotypes even within the same family. Most genetically ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5471-1
更新日期:2010-07-01 00:00:00
abstract::The history of our understanding of the pathogenesis and pathophysiology of multiple sclerosis are reviewed in the context of Charcot's contribution. The implications for treatment of the new knowledge gained from studies during life of pathology and pathogenesis (by MRI) and pathophysiology (by evoked potentials) are...
journal_title:Journal of neurology
pub_type: 传,历史文章,杂志文章
doi:10.1007/BF00838443
更新日期:1993-01-01 00:00:00
abstract::An immunohistochemical study using the mirror-image technique was performed in order to establish whether amyloid P component is involved in the mechanism of deposition of amyloid fibrils in senile plaques (SPs) in Alzheimer-type dementia (ATD). Ninety percent of beta/A4 protein-immunoreactive SPs were also stained by...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00868345
更新日期:1994-01-01 00:00:00
abstract::The aim of the present study was to assess the efficacy and safety of chronic subthalamic nucleus deep-brain stimulation (STN-DBS) in patients with Parkinson's disease (PD). 18 consecutive severely affected PD patients were included (mean age, SD: 56.9+/-6 years; mean disease duration: 13.5+/-4.4 years). All the patie...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s004150200059
更新日期:2002-05-01 00:00:00
abstract::We have performed genetic screening on the skeletal muscle chloride channel gene (CLCN1) in Taiwanese population. A total of four patients with myotonia congenita (MC) together with 106 normal individuals were examined. All 23 exons of the CLCN1 gene were analysed by direct sequencing of PCR products to detect the nuc...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-004-0383-6
更新日期:2004-06-01 00:00:00
abstract::Diminished activity of uroporphyrinogen I-synthetase in the liver and other tissues may be regarded to be the primary genetic deficiency of acute intermittent porphyria (AIP). Increased production and renal excretion of delta-aminolevulinic acid (ALA) und porphobilinogen (PBG) are secondary phenomena. The neuropsychia...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00316572
更新日期:1977-03-21 00:00:00
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 ...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析
doi:10.1007/s00415-019-09401-1
更新日期:2019-09-01 00:00:00
abstract::The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurological disorders with overlapping as well as highly variable phenotypes primarily affecting the cerebellum. To date, 28 different loci have been identified. Nine SCAs are caused by repea...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5209-0
更新日期:2009-11-01 00:00:00
abstract::An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for th...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00838160
更新日期:1993-05-01 00:00:00
abstract:OBJECTIVE:Patients with classic ataxia-telangiectasia (A-T) generally die in the second or third decade of life. Clinical descriptions of A-T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A-T develop...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09641-1
更新日期:2020-03-01 00:00:00
abstract:AIM:To assess: (1) the prevalence of convexity subarachnoid hemorrhage (cSAH) in infective endocarditis (IE); (2) its relationship with IE features; (3) the associated lesions; (4) whether cSAH is a predictor of future hemorrhage; (5) whether cSAH could cause cortical superficial siderosis (cSS). METHODS:We retrospect...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09953-7
更新日期:2020-10-01 00:00:00
abstract::Functional magnetic resonance imaging (fMRI) of hand movements in amyotrophic lateral sclerosis (ALS) has repeatedly demonstrated increased activation in cortical and subcortical areas, whereas a single study has suggested decreased rather than increased activations for tongue movements in patients with bulbar involve...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-010-5842-7
更新日期:2011-05-01 00:00:00
abstract::Parkinson's disease (PD) is a neurodegenerative disease caused by both genetic and environmental factors. Sirtuins are highly-conserved, NAD-dependent class III deacetylases that regulate a variety of cellular functions. Most of the known sirtuins have been involved in animal models of neurodegenerative disorders, suc...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-6970-7
更新日期:2013-09-01 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
abstract::Glucocorticoids are the standard of care for multiple sclerosis (MS) relapses, but the most desirable route of administration is still matter of debate. The aim of the study was to compare the efficacy and safety of oral versus intravenous steroids for treatment of acute relapses in patients with MS. Randomized or qua...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00415-017-8505-0
更新日期:2017-08-01 00:00:00
abstract::This study aimed to elucidate the natural history of senile myoclonic epilepsy, a type of myoclonic epilepsy associated with Alzheimer's disease in adult Down syndrome patients. Twelve Down syndrome patients over the age of 40 years with myoclonic epilepsy and Alzheimer's disease underwent clinical, neuropsychological...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7376-x
更新日期:2014-08-01 00:00:00
abstract::In idiopathic rapid eye movement sleep behaviour disorder (RBD), an association with visuoperceptive disorders has been described. However, such an association has not been clearly established in RBD secondary to Parkinson's disease (PD). We compared visuoperceptive function in four groups of non-demented patients (pa...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-009-5328-7
更新日期:2010-03-01 00:00:00
abstract::Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems. A few cases of CDG-Ia have...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-007-0546-3
更新日期:2007-10-01 00:00:00
abstract:OBJECTIVE:To characterize the progression of the cognitive involvement in patients affected by myotonic dystrophy type 1 (DM1) by a longitudinal neuropsychological follow-up study. METHODS:In a previous study we documented an ageing-related decline of frontal and temporal cognitive functions in juvenile/adult forms of...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0017-5
更新日期:2008-11-01 00:00:00
abstract::We investigated the effect of chronic mechanical compression of the cervical spinal cord on the number of spinal accessory motoneurons in 25 tiptoe-walking Yoshimura mice. The animals had calcified deposits in the atlantoaxial membrane at the C1-C2 vertebral level, compressing the spinal cord posterolaterally. Motoneu...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s004150050076
更新日期:1997-04-01 00:00:00
abstract::58 patients with various underlying neurological diseases, who had an impairment of attention, were examined. 12 patients without clinically evident disorders of attention were examined as a control group. The aim of the study was the development of a standardized procedure for the assessment of impaired attention. An...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00630637
更新日期:1975-01-01 00:00:00
abstract::In fibromyalgia (FM), reduced habituation of laser-evoked potentials (LEPs) suggests a dysfunction of pain processing at a central level. In this study, we aimed to further examine the nociceptive pathways at the peripheral to the central level in a large group of FM patients by means of LEPs and skin biopsy, in light...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7211-9
更新日期:2014-03-01 00:00:00
abstract::This meta-analysis aims to compare percutaneous transluminal angioplasty (PTA) to medical treatment (MT) for symptomatic vertebral artery stenosis (SVAS) treatment. We searched PubMed, Springer, Google Scholar, Clinical Trials, Cochrane Central, Chinese National Knowledge Infrastructure, and China Biological Medicine ...
journal_title:Journal of neurology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00415-016-8267-0
更新日期:2017-05-01 00:00:00
abstract:INTRODUCTION:Mounting evidence supports the existence of an important feedforward cycle between sleep and neurodegeneration, wherein neurodegenerative diseases cause sleep and circadian abnormalities, which in turn exacerbate and accelerate neurodegeneration. If so, sleep therapies bear important potential to slow prog...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10334-3
更新日期:2020-12-23 00:00:00
abstract::Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase d...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313744
更新日期:1981-01-01 00:00:00
abstract::Frequent serial EEG investigations of three patients with neuropathologically confirmed Creutzfeldt-Jakob disease lasting 13, 24 and 68 weeks revealed typical periodic activity of short duration with stereotyped bilateral sharp waves at the 7th, 8th, and 12th week, respectively, after the onset of symptoms. During the...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00328506
更新日期:1989-12-01 00:00:00