Abstract:
INTRODUCTION:Fabry disease (FD) is an X-linked lysosomal storage disorder resulting in vascular glycosphingolipid accumulation and increased stroke risk. MRI findings associated with FD include white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), suggesting the presence of cerebral small vessel disease. MRI-visible perivascular spaces (PVS) are another promising marker of small vessel disease associated with impaired interstitial fluid drainage. We investigated the association of PVS severity and anatomical distribution with FD. PATIENTS AND METHODS:We compared patients with genetically proven FD to healthy controls. PVS, WMH, lacunes and CMBs were rated on standardised sequences using validated criteria and scales, blinded to diagnosis. A trained observer (using a validated rating scale), quantified the total severity of PVS. We used logistic regression to investigate the association of severe PVS with FD. RESULTS:We included 33 FD patients (median age 44, 44.1% male) and 20 healthy controls (median age 33.5, 50% male). Adjusting for age and sex, FD was associated with more severe basal ganglia PVS (odds ratio (OR) 5.80, 95% CI 1.03-32.7) and higher total PVS score (OR 4.03, 95% CI 1.36-11.89). Compared with controls, participants with FD had: higher WMH volume (median 495.03 mm3 vs 0, p = 0.0008), more CMBs (21.21% vs none, p = 0.04), and a higher prevalence of lacunes (21.21% vs. 5%, p = 0.23). CONCLUSIONS:PVS scores are more severe in FD than control subjects. Our findings have potential relevance for FD diagnosis and suggest that impaired interstitial fluid drainage might be a mechanism of white matter injury in FD.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Lyndon D,Davagnanam I,Wilson D,Jichi F,Merwick A,Bolsover F,Jager HR,Cipolotti L,Wheeler-Kingshott C,Hughes D,Murphy E,Lachmann R,Werring DJdoi
10.1007/s00415-020-10209-7subject
Has Abstractpub_date
2020-10-19 00:00:00eissn
0340-5354issn
1432-1459pii
10.1007/s00415-020-10209-7pub_type
杂志文章abstract:BACKGROUND:Despite advances in the field, diagnosis and management of the wide spectrum of neurological events post allogeneic hematopoietic cell transplantation (alloHCT) remain challenging. Therefore, we investigated their incidence, diagnosis, management and long-term prognosis in alloHCT recipients. METHODS:We ret...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09372-3
更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:Classifying and diagnosing peripheral vestibular disorders based on their symptoms is challenging due to possible symptom overlap or atypical clinical presentation. To improve the diagnostic trajectory, gadolinium-based contrast-enhanced magnetic resonance imaging of the inner ear is nowadays frequently used...
journal_title:Journal of neurology
pub_type: 杂志文章,评审
doi:10.1007/s00415-020-10278-8
更新日期:2020-12-01 00:00:00
abstract::In multiple sclerosis (MS), randomly located demyelination lesions may involve a large part of the central nervous system and disturb oculomotor activity, including impairment of saccadic and pursuit systems. The aim of the work was to determine the frequency of smooth pursuit disturbances in MS patients and assess th...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-011-6014-0
更新日期:2011-10-01 00:00:00
abstract::Postpartum lower limb motor and/or sensory deficit is an uncommon obstetrical complication. We aimed to identify its incidence, etiology, and precipitating factors, as well as the neurological prognosis by retrospectively analyzing the successive neurological evaluations, electrophysiological, and MRI data from all th...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-016-8388-5
更新日期:2017-03-01 00:00:00
abstract:: ...
journal_title:Journal of neurology
pub_type: 信件
doi:10.1007/s00415-018-9066-6
更新日期:2018-12-01 00:00:00
abstract:OBJECTIVE:To investigate possible changes in autonomic cardiovascular regulation and cardiopulmonary baroreflex sensitivity in patients with primary cervical dystonia receiving chronic treatment with botulinum toxin type A. METHODS:Short-term power spectral analysis of heart rate and systolic blood pressure variabilit...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0753-6
更新日期:2008-06-01 00:00:00
abstract::Weight loss is a common symptom of Parkinson's disease and is associated with impaired quality of life. Predictors of weight loss have not been studied in large clinical cohorts. We previously observed an association between change in body mass index and change in Unified Parkinson's Disease Rating Scale (UPDRS) motor...
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/s00415-017-8562-4
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:The symptomatic treatment of myotonia and myalgia in patients with dystrophic and non-dystrophic myotonias is often not satisfactory. Some patients anecdotally report symptoms' relief through consumption of cannabis. METHODS:A combination of cannabidiol and tetrahydrocannabinol (CBD/THC) was prescribed as c...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09593-6
更新日期:2020-02-01 00:00:00
abstract::Diffusion tensor imaging (DTI) has become a useful tool for investigating early white matter (WM) abnormalities in motor neuron disease. Furthermore, fiber tracking packages that apply multi-tensorial algorithms, such as q-ball imaging (QBI), have been proposed as alternative approaches to overcome DTI limitations in ...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-013-7144-3
更新日期:2014-01-01 00:00:00
abstract::In 40 rabbits cerebral ischaemia was induced by autologous blood clot emboli injected into the middle cerebral artery. Autologous blood clot formed spontaneously (within 2 h) in a catheter fixed in the internal carotid artery. The effects of embolization were investigated on arterial blood pressure, respiration, local...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314181
更新日期:1988-05-01 00:00:00
abstract::A clinical and electrophological study was performed on 30 patients with chronic carbon disulphide poisoning. Although the measurements of motor conduction velocity and of terminal latency were within the normal range in the subclinical stage, estimation of nerve excitability threshold showed distal motor hypoexcitabi...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313208
更新日期:1980-01-01 00:00:00
abstract::Four patients from three unrelated families, with clinical and electrophysiological findings compatible with the diagnosis of hereditary motor and sensory neuropathy, are presented. The molecular analysis showed that the affected individuals were homozygous for the mutation in the X25 gene, characteristic of Friedreic...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-002-0902-2
更新日期:2002-11-01 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:OBJECTIVES:Recent retrospective studies found sleep disorders, including obstructive sleep apnea and its symptoms to occur more often in patients following aneurysmal subarachnoid hemorrhage, but studies investigating the incidence of subarachnoid hemorrhage in patients with diagnosed obstructive sleep apnea [OSA] comp...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09265-5
更新日期:2019-06-01 00:00:00
abstract:BACKGROUND:Rapid eye movement sleep behavior disorder (RBD) is highly comorbid with Parkinson's disease (PD). Emerging evidence suggests that dopamine-replacement therapies (DRTs) for PD may modify the course of RBD, yet the nature of the association between DRTs and RBD remains unclear. To begin addressing this issue,...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09956-4
更新日期:2020-10-01 00:00:00
abstract::Neuroinflammation (microglial activation) and subclinical nigrostriatal dysfunction have been reported in subjects at risk of Parkinsonism. Eight non-manifesting carriers (NMCs) of LRRK2 G2019S mutation had 11C-PK11195 and 18F-DOPA PET to assess microglial activation and striatal dopamine system integrity, respectivel...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09830-3
更新日期:2020-08-01 00:00:00
abstract::In order to learn more on the occurrence of pains and motor deficit in severe diabetic polyneuropathy we reviewed the data of a series of 30 diabetic patients with an uncommonly severe length-dependent diabetic polyneuropathy (LDDP). Extensive sensory loss predominated with pains and temperature sensations and affecte...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-008-0999-z
更新日期:2008-11-01 00:00:00
abstract::A comparative study of clinical and morphological findings in three fatal cases of acute necrotizing hemorrhagic encephalomyelitis (ANHE) and hyperacute experimental allergic encephalomyelitis (HEAE) in rhesus monkeys is reported. In all cases ANHE was characterized clinically by definite prodromal respiratory infecti...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00313109
更新日期:1979-08-01 00:00:00
abstract:OBJECTIVE:To report the clinical features and long-term outcome of 22 newly diagnosed paraneoplastic patients with GABAB receptor antibodies (GABABR-Abs). METHODS:Retrospective clinical study of CSF-confirmed cases of GABABR-Abs encephalitis. RESULTS:We identified 22 patients (4 female) with GABABR-Abs, with a median...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9132-0
更新日期:2019-01-01 00:00:00
abstract:OBJECTIVE:To assess the changes of muscle-related biomarkers at the early stage of amyotrophic lateral sclerosis, and to confirm these findings in an experimental animal model. METHODS:Thirty-nine subjects with sporadic amyotrophic lateral sclerosis and 20 healthy controls were enrolled and longitudinally evaluated. W...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-019-09507-6
更新日期:2019-12-01 00:00:00
abstract::Intrathecal IgG synthesis has been investigated by determining the IgG index and by isoelectric focusing in 30 cases of definite multiple sclerosis, in 15 cases of probable multiple sclerosis and in 128 patients affected by other neurological diseases. The blood-brain barrier function was evaluated at the same time by...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00314641
更新日期:1979-10-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Considerable studies have reported inconsistent relationships between ischemic stroke and a large number of factors. These uncertainties may reflect the susceptibility to confounding in observational studies. We aimed to assess genetic correlations and causal relationships between ischemic stroke...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-09786-4
更新日期:2020-07-01 00:00:00
abstract::The concentration of neopterin was measured in serum samples taken from individuals infected with HTLV-I: 5 from asymptomatic individuals, 1 from a patient with adult T-cell leukaemia and 30 from patients with tropical spastic paraparesis (TSP). In addition, cerebrospinal fluid (CSF) was available from 22 of the TSP p...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/BF00810351
更新日期:1992-05-01 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:OBJECTIVES:The aim of this study was to identify clinical, magnetic resonance imaging (MRI) and biological markers predictive of long-term clinical response to interferon beta (IFN beta) therapy in patients with relapsing-remitting multiple sclerosis (RRMS). METHODS:Sixty-eight patients treated with IFN beta were foll...
journal_title:Journal of neurology
pub_type: 临床试验,杂志文章
doi:10.1007/s00415-005-0979-5
更新日期:2006-03-01 00:00:00
abstract::Deep brain stimulation of the subthalamic nucleus (STN) is an effective treatment modality for motor symptoms of advanced Parkinson's disease. Recent studies focus on exploring its possible effects on cognition and behavior. We present a case with acute cognitive dysfunction due to misalignment of the electrodes to th...
journal_title:Journal of neurology
pub_type: 信件
doi:10.1007/s00415-009-5103-9
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND:Recent research has convincingly shown that the ability to work mainly depends on the cognitive status in multiple sclerosis (MS). An international committee of experts recommended a brief neuropsychological battery to evaluate cognitive performance in MS. BICAMS comprises three tests, the Symbol Digit Modal...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9034-1
更新日期:2018-11-01 00:00:00
abstract::Recessive mutations in GJC2, the gene-encoding connexin 47 (Cx47), cause Pelizaeus-Merzbacher-like disease type 1, a severe dysmyelinating disorder. One recessive mutation (p.Ile33Met) has been associated with a much milder phenotype--hereditary spastic paraplegia type 44. Here, we present evidence that a novel Arg98L...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-014-7429-1
更新日期:2014-10-01 00:00:00
abstract:OBJECTIVE:To use arterial spin labelling to investigate differences in perfusion in mild cognitive impairment with Lewy bodies (MCI-LB) compared to Alzheimer type MCI (MCI-AD) and healthy controls. METHODS:We obtained perfusion images on 32 MCI-LB, 30 MCI-AD and 28 healthy subjects of similar age. Perfusion relative t...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-020-10271-1
更新日期:2020-10-21 00:00:00
abstract:BACKGROUND:D-dimer levels are used in several clinical settings, such as in predicting venous thrombosis, cardioembolic stroke and cancer status. In the present study, we investigated the associations between plasma D-dimer levels at admission, clinical characteristics and mortality at discharge in cryptogenic stroke p...
journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-8742-x
更新日期:2018-03-01 00:00:00