Abstract：
:We report a case with genetically confirmed hereditary diffuse leukoencephalopathy with spheroids with distinctive MRI features. A 52-year-old woman with a family history of juvenile dementia presented with an 18-month history of progressive cognitive decline. Longitudinal magnetic resonance imaging studies of the brain revealed increasing and persistent white matter hyperintensities on diffusion-weighted images. Linear high intensity signal along axonal fibers arisen from the cerebral cortex was also shown. Finding of subcortical calcifications was noted on brain CT scan. Sequence analysis of CSF1R showed a novel missense mutation c.2467C>T (p.Ala823Val). Persistent and increasing diffusion on magnetic resonance image, presumably reflecting intramyelinic oedema in regions of neurodegeneration, is a distinctive feature observed in this case. The presence of this unique finding can be a diagnostic clue in the early stage of the disease.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Terasawa Y,Osaki Y,Kawarai T,Sugimoto T,Orlacchio A,Abe T,Izumi Y,Kaji Rdoi
10.1016/j.jns.2013.08.027subject
Has Abstractpub_date
2013-12-15 00:00:00pages
213-5issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(13)02876-1journal_volume
335pub_type
杂志文章abstract：:Nitric oxide (NO) may be involved in myelin and oligodendrocyte injury associated with multiple sclerosis (MS), a demyelinating disease of unknown etiology. The cerebrospinal fluid (CSF) from MS patients may provide an important signal inducing a pathologic process within the central nervous system (CNS). To investiga...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(96)00164-5
更新日期：1996-10-01 00:00:00
abstract：:McLeod syndrome is a rare X-linked disorder involving neurological defects and acanthocytosis. We examined the XK gene in three patients with neuroacanthocytosis, one of whom had cardiomyopathy, and his symptoms were very similar to those of McLeod syndrome. We found two new transversions (C to G at codon 204 and G to...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(97)00067-1
更新日期：1997-09-10 00:00:00
abstract：INTRODUCTION:Intracerebral hemorrhage (ICH) associated with pregnancy commonly occurs in the postpartum period in the setting of preeclampsia/eclampsia. We describe the clinical course of two patients with ICH due to postpartum cerebral vasculopathy in the absence of toxemia. METHODS:We reviewed two cases with ICH and...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/s0022-510x(02)00245-9
更新日期：2002-12-15 00:00:00
abstract：OBJECTIVE:Delirium is an independent risk factor for cognitive impairment and development of dementia in medical patients. It has never been thoroughly studied whether this association is also present in the stroke population. Our aim was to evaluate the effects of delirium in the acute phase after stroke on cognitive ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.03.024
更新日期：2011-07-15 00:00:00
abstract：:Administration of retinoic acid (RA) prevented the development of experimental allergic encephalomyelitis (EAE) in Lewis rats. RA suspended in corn oil was given for 3 days before the expected onset of the disease to rats immunized with myelin and to controls. The drug suppressed the neurological symptoms as well as t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90220-6
更新日期：1987-08-01 00:00:00
abstract：:We studied neurite regeneration in MRL-lpr/lpr mice, a murine model of systemic lupus erythematosus, using a culture system to investigate the influences of immunological abnormalities on neurons. The regeneration of cultured dorsal root ganglion (DRG) neurons from MRL-lpr/lpr mice was delayed compared with control MR...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)05216-1
更新日期：1997-07-01 00:00:00
abstract：:The fibre composition of functionally different regions, the superficial and the deep portions, of the human masseter and the biceps brachii muscles of six elderly subjects (mean age 74 years) was studied by morphological and enzyme-histochemical methods. When compared to previous data for young adults, the masseter m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(97)00208-6
更新日期：1998-01-21 00:00:00
abstract：:Non-substance addictive behaviors may involve repetitive rewarding behaviors including gambling, gaming, sexual activities, internet-use, and buying-shopping. In addictions, there exists diminished control over participation in the behaviors and continuation of the behaviors despite experiencing negative consequences....
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2020.116952
更新日期：2020-08-15 00:00:00
abstract：:The muscle provocation test (MPT: 40 min of strenuous exercise on a bicycle ergometer) is a sensitive method for the detection of carriers of Duchenne muscular dystrophy. The diagnostic applicability of MPT for carrier detection in X-linked Becker muscular dystrophy is demonstrated. Obligate carriers with mean creatin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90194-6
更新日期：1983-12-01 00:00:00
abstract：:We report a 17-year-old man showing myoclonic involuntary movement (IVM) associated with chronic manganese (Mn) poisoning. The patient, a welder, showed myoclonic IVM mainly in the right upper and lower extremities, elevated levels of Mn in the blood and hair and high-intensity signals in the globus pallidus on T1-wei...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00111-9
更新日期：2002-07-15 00:00:00
abstract：:In this report the clinical features of a case of clofibrate-induced muscular syndrome, as well as the electromyographic, histochemical, light- and electron-microscopic findings are described. The clinical features are similar to those of previously reported cases. Electromyography was consistent with a myopathy. Hist...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(79)90149-7
更新日期：1979-06-01 00:00:00
abstract：BACKGROUND:MS relapses are unpredictable and can be concerning to patients and their caregivers. OBJECTIVE:To assess the direct and indirect cost burden associated with relapses of different severities in MS patients and with MS relapse frequency on spouse caregivers. METHODS:Using a U.S. insurance claims and employe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.04.007
更新日期：2013-07-15 00:00:00
abstract：INTRODUCTION:Recent discoveries of disease-causing genes in Parkinson's disease (PD) have generated considerable interest regarding genetic testing in PD. The attitudes toward genetic testing are largely influenced by knowledge and preconceived notions. OBJECTIVE:We investigated the relationship between knowledge of a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2006.10.016
更新日期：2007-01-31 00:00:00
abstract：:Bacillus Calmette-Guérin (BCG) and Mycobacterium avium subspecies paratuberculosis (MAP) have been associated with multiple sclerosis (MS). Clinical data indicates that BCG vaccination exerts anti-inflammatory effects in MS; conversely, MAP is thought to be one of the possible infectious factors responsible of MS thro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.09.023
更新日期：2014-12-15 00:00:00
abstract：:Thromboxane-prostacyclin imbalance may be an important determinant of platelet-vessel wall interactions that are vital in circulatory homeostasis. In experimental spinal cord injury, the vascular damage contributes substantially to the process of progressive secondary injury culminating in post-traumatic myelopathy. I...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90019-6
更新日期：1988-01-01 00:00:00
abstract：BACKGROUND:Cladribine causes sustained reduction in peripheral T and B cell populations while sparing other immune cells. We determined two populations of dendritic cells (DCs): namely CD1c(+)/CD19(-) (myeloid DCs) and CD303(+)/CD123(+) (plasmacytoid DCs), CD19(+) B lymphocytes, CD3(+) T lymphocytes and CD4(+) or CD8(+...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.06.003
更新日期：2013-09-15 00:00:00
abstract：:Antibodies against myelin oligodendrocyte glycoprotein (MOG) mediate demyelination in experimental autoimmune encephalomyelitis (EAE) in different animal species and are implicated in the immunopathogenesis of multiple sclerosis (MS). In order to evaluate the anti-MOG response, we have analyzed the cerebrospinal fluid...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(03)00066-2
更新日期：2003-07-15 00:00:00
abstract：BACKGROUND:Antiplatelet therapies for secondary prevention of ischemic stroke or transient ischemic attack (TIA) is a highly active research topic with five critical drugs obtained by visual analysis. We aimed to compare and rank multiple antiplatelet therapies using a network meta-analysis. METHODS:Relevant medical d...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析
doi：10.1016/j.jns.2019.02.037
更新日期：2019-04-15 00:00:00
abstract：:Epstein-Barr virus (EBV) is a human DNA herpesvirus infecting more than 90% of the world's population. EBV is the etiological agent of infectious mononucleosis (Pfeiffer's disease). Furthermore, diverse malignancies such as Burkitt and Hodgkin lymphoma have been associated with EBV. More recently, a possible role for ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2009.03.028
更新日期：2009-11-15 00:00:00
abstract：:A method of carrying out electrophysiological experiments on the mouse spinal cord is described. The conduction velocity in the spinal dorsal roots (DR) of the normal mouse was in the range 10-100 m sec-1 and in the ventral roots (VR) 50-70 m sec-1. In the dystrophic mutant (129 ReJ dy/dy) the conduction velocity for ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90005-3
更新日期：1977-01-01 00:00:00
abstract：BACKGROUND:Several correlations between cognitive impairment (CI), radiologic markers and cognitive reserve (CR) have been documented in MS. OBIECTIVE:To evaluate correlation between CI and brain volume (BV) considering CR as possibile mitigating factor. METHODS:195 relapsing MS patients underwent a neuropsychologica...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.01.011
更新日期：2018-03-15 00:00:00
abstract：:The current definition of paroxysmal atrial fibrillation (PAF) requires an arbitrary cut-off of >30s, but in clinical practice cryptogenic stroke (CS) patients with PAF duration of ≤30s are not usually excluded from anticoagulation therapy. We sought to evaluate the clinical relevance of short-duration (≤30s) PAF in C...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2017.03.038
更新日期：2017-05-15 00:00:00
abstract：:We aimed to clarify the longitudinal course of mild parkinsonian signs (MPS) and their association with dementia and functional disability by conducting a comprehensive epidemiological study, including brain MRI, and assessments of cognition, depression, and sleep, in people aged ≥65years living in Ama-cho. We diagnos...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.01.016
更新日期：2016-03-15 00:00:00
abstract：BACKGROUND:Multiple sclerosis (MS) and allergies are both considered to be related to imbalanced Th1 and Th2 immune responses. Previous studies evaluating the relationship between MS and allergies provide conflicting results. OBJECTIVE:To assess allergies and asthma as risk factors for MS and as predictors of MS relap...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2017.02.041
更新日期：2017-04-15 00:00:00
abstract：:A variety of neurological conditions and disease states are accompanied by pseudobulbar affect (PBA), an emotional disorder characterized by uncontrollable outbursts of laughing and crying. The causes of PBA are unclear but may involve lesions in neural circuits regulating the motor output of emotional expression. Sev...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2006.06.030
更新日期：2007-08-15 00:00:00
abstract：BACKGROUND:Intracerebral hemorrhage (ICH) growth is an important independent predictor of clinical deterioration and outcome. Little is known about the association between etiology of ICH and occurrence of hematoma expansion (HE). The aim of the present study was to assess whether ICH etiologic subtype may influence th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.11.024
更新日期：2015-12-15 00:00:00
abstract：:Ischemic brain lesions were induced in adult Wistar and Fischer rats by temporary occlusion of the bilateral common carotid artery. The severity of ischemic lesions depended on the duration of carotid occlusion. While 2 h occlusion resulted in 15 deaths among 40 rats and the development of ischemic lesions in 16 of 25...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90098-1
更新日期：1989-04-01 00:00:00
abstract：:The Purkinje cell densities in the cerebellar vermis were determined in 31 male alcoholics and 34 non-alcoholic controls under 70 years of age. In addition, all cases were examined histologically for atrophy of the superior vermis. All analyses were performed independently of each other and on randomized slides. The a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90049-3
更新日期：1986-08-01 00:00:00
abstract：:Muscle pain is the presenting symptom in patients with a wide variety of conditions. Such patients often pose problems in diagnosis and management and a rational scheme for their investigation is needed. The results of muscle biopsy, electromyography, exercise and strength testing and blood measurements in 109 consecu...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(83)90111-9
更新日期：1983-01-01 00:00:00
abstract：:We report on the case of a 70-year-old man with primary macroglobulinemia who showed cranial polyneuropathy and extensive radiculoneuropathy. His serum contained an IgM lambda monoclonal antibody which reacted with both a high molecular weight protein in grey matter and purified myelin basic protein (MBP) on immunoblo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)05305-1
更新日期：1997-05-01 00:00:00
