Abstract：
:An X-linked myopathy was recently associated with mutations in the four-and-a-half-LIM domains 1 (FHL1) gene. We identified a family with late onset, slowly progressive weakness of scapuloperoneal muscles in three brothers and their mother. A novel missense mutation in the LIM2 domain of FHL1 (W122C) co-segregated with disease in the family. The phenotype was less severe than that in other reported families. Muscle biopsy revealed myopathic changes with FHL1 inclusions that were ubiquitin- and desmin-positive. This mutation provides additional evidence for X-linked myopathy caused by a narrow spectrum of mutations in FHL1, mostly in the LIM2 domain. Molecular dynamics (MD) simulations of the newly identified mutation and five previously published missense mutations in the LIM2 domain revealed no major distortions of the protein structure or disruption of zinc binding. There were, however, increases in the nonpolar, solvent-accessible surface area in one or both of two clusters of residues, suggesting that the mutant proteins have a variably increased propensity to aggregate. Review of the literature shows a wide range of phenotypes associated with mutations in FHL1. However, recognizing the typical scapuloperoneal phenotype and X-linked inheritance pattern will help clinicians arrive at the correct diagnosis.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Chen DH,Raskind WH,Parson WW,Sonnen JA,Vu T,Zheng Y,Matsushita M,Wolff J,Lipe H,Bird TDdoi
10.1016/j.jns.2010.06.017subject
Has Abstractpub_date
2010-09-15 00:00:00pages
22-9issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(10)00287-Xjournal_volume
296pub_type
杂志文章abstract：:Affective disorders and personality changes have long been considered pre-motor aspects of Parkinson's disease (PD). Many authors have used the term "premorbid personality" to define distinctive features of PD patients' personality characterized by reduced exploration of new environmental stimuli or potential reward s...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2017.01.013
更新日期：2017-03-15 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：OBJECTIVES:To examine the relationship between homeostatic model of insulin resistance (HOMA-IR) and cognitive test performance among population≥60years in a national database. HYPOTHESIS:Higher insulin resistance is associated with lower cognitive test performance score in the population≥60years. PARTICIPANTS:We ana...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.11.031
更新日期：2018-05-15 00:00:00
abstract：INTRODUCTION:Functional movement disorders (FMD) are not associated with the kind of structural or biochemical alterations seen in other movement disorders and therefore would be unlikely to be associated with lower urinary tract (LUT) dysfunction. However, LUT symptoms have been observed in patients with FMD. OBJECTI...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.12.048
更新日期：2016-02-15 00:00:00
abstract：OBJECTIVE:Despite the wide utilization of mechanical thrombectomy (MT) for acute ischemic stroke treatment, little is known about the incidence of early post-thrombectomy seizures, its predictors, and association with long-term outcome. METHODS:Using a prospective registry of mechanical thrombectomy in ischemic stroke...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.11.033
更新日期：2019-01-15 00:00:00
abstract：:3',5'-Cyclic nucleotide phosphodiesterase (PDE) is known to play an important role in the regulation of cyclic nucleotide levels in various tissues including the muscle. Previous studies have estimated the level of this enzyme in several neuromuscular disorders but the results have been variable. Moreover, there was n...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90171-g
更新日期：1992-06-01 00:00:00
abstract：:Somatosensory evoked potentials (SEPs) were recorded in a group of 18 patients with dystrophia myotonica and in 28 control subjects after stimulating the right and left posterior tibial (SEP-PT) and sural (SEP-S) nerves at the ankles. Recording electrodes were placed in the popliteal fossae, overlying the L3 spinal ve...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90187-x
更新日期：1985-08-01 00:00:00
abstract：INTRODUCTION:Cerebral hyperperfusion syndrome (CHS) and intracranial hemorrhage (ICH) after carotid revascularization have been associated with significant morbidity and mortality, although pooled data comparing these outcomes between open and endovascular treatment are lacking. Aim of this meta-analysis is to compare ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2017.08.020
更新日期：2017-10-15 00:00:00
abstract：:The clinical, genetic and electrophysiological study of 3 patients with an association of a neuronal form of Charcot-Marie-Tooth Disease (CMTD) with a syndrome of continuous motor unit activity (CMUA) are reported, with light and electron microscopy of muscle and sural nerve biopsies in 2 patients. The unusual clinica...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(84)90105-9
更新日期：1984-01-01 00:00:00
abstract：:Low 25-hydroxy vitamin D (25-[OH]-D) serum concentrations have been associated with higher disease activity in multiple sclerosis (MS) patients. In a large cross-sectional study we assessed the vitamin D status in MS patients in relation to seasonality and relapse rate. 415 MS-patients (355 relapsing-remitting MS and ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.01.059
更新日期：2017-04-15 00:00:00
abstract：BACKGROUND:Progressive multifocal leukoencephalopathy, caused by oligodendrocyte lytic infection by JCVirus, is a growing concern for patients undergoing immune modulatory therapies for treatment of autoimmune diseases, such as multiple sclerosis (MS). The objective of JEMS was to describe the prevalence of anti-JCV an...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.11.031
更新日期：2014-02-15 00:00:00
abstract：:Platelet aggregation (PA) induced by (-)-epinephrine and adenosine diphosphate (ADP) was studied in 16 patients with myotonic dystrophy (MyD) and 14 healthy subjects. Plasma beta-thromboglobulin level (beta-TG), a useful marker of in vivo platelet release reaction, as well as in vitro 5-[14C]hydroxytryptamine (5-HT) r...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90128-1
更新日期：1988-04-01 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：:We report a new Japanese family of sialidosis type I. The sialidase activity was deficient in the lymphocytes of 2 patients (6.8% (sister) and 12.5% (brother) of control mean). However, surprisingly, using the transformed lymphocytes by EB virus, this activity was activated to 51.7% (sister) and 49.5% (brother) of con...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(95)00102-8
更新日期：1995-07-01 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：:Muscle electrical activity has been studied in mice after intraperitoneal injection of sera from myasthenia gravis (MG) patients. Myasthenic serum did not modify the electrical properties of innervated muscle fibres. The resting membrane potential and the action potential parameters remained unchanged. However, tetrod...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90063-4
更新日期：1989-07-01 00:00:00
abstract：:The effects of combined treatment with low-density lipoprotein (LDL)-apheresis, chenodeoxycholic acid (CDCA) and 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) reductase inhibitor were studied in 2 patients with cerebrotendinous xanthomatosis. Patient 1 was initially treated with LDL-apheresis alone: serum cholestanol level...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2003.07.005
更新日期：2003-12-15 00:00:00
abstract：BACKGROUND:Intravenous rt-PA is effective in hyperacute ischemic stroke (HAIS) but is administered only in few patients. OBJECTIVES:To report the thrombolysis rate in our stroke unit using a stroke code (SC) protocol with a prenotification system and to analyze the SC impact on the thrombolysis rate in a systematic re...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析
doi：10.1016/j.jns.2011.10.009
更新日期：2012-03-15 00:00:00
abstract：:Low fluidity was observed in the erythrocyte membranes of familial chorea-acanthocytosis by spin labeling with 12NS. The high content of the saturated fatty acids support the finding of low fluidity. Other lipid contents (cholesterol and phospholipids) and the cholesterol/phospholipid ratio were within normal ranges. ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90096-6
更新日期：1985-05-01 00:00:00
abstract：:Glucose-regulated protein (GRP) 94 is a member of the stress protein family, which is localized in the endoplasmic reticulum (ER). Spinal cord injury (SCI) induced ER stress that results in apoptosis. However, the role of GRP94 in injury of the central nervous system remains unknown. In this study, we performed SCI in...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2011.06.024
更新日期：2011-10-15 00:00:00
abstract：BACKGROUND:There is a need for biomarkers that can classify optic neuritis (ON) attacks as belonging to either neuromyelitis optica spectrum disorder with optic neuritis (NMOSD-ON) or relapsing remitting multiple sclerosis with optic neuritis (MS-ON). This study uses spectral domain optical coherence tomography (SD-OCT...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.11.017
更新日期：2018-01-15 00:00:00
abstract：OBJECTIVE:To determine the influence of different factors on test-retest reliability of frequently used transcranial magnetic stimulation (TMS) parameters while controlling for potential confounders in healthy subjects. METHODS:TMS was applied in 93 healthy volunteers (61% male) twice (mean retest interval of 34.0 ± 2...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.01.039
更新日期：2016-03-15 00:00:00
abstract：:To determine the prevalence and subtypes of dementia in southern Taiwan, a two-phase study consisting of a phase I screening survey using the Mini-Mental Status Examination (MMSE) and a phase II diagnostic examination using the CERAD neuropsychological battery and the neurobehavioral examination was conducted. Accordi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00225-1
更新日期：1998-09-18 00:00:00
abstract：:We performed post-mortem examinations of three patients with progressive neurogenic amyotrophy of long duration. One patient had been clinically diagnosed as having sporadic amyotrophic lateral sclerosis (ALS) and two had been diagnosed with progressive spinal muscular atrophy (PSMA). The disease durations were 10, 17...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)00297-3
更新日期：1997-03-10 00:00:00
abstract：OBJECTIVE:Cerebrovascular lesions (CVLs) are known to play important roles in the pathophysiology underlying Alzheimer's disease (AD), especially in elderly AD cases. The present study was conducted to elucidate the relationship between the CVLs and vascular risk factors (VRFs) in elderly Japanese patients with AD. SU...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.07.001
更新日期：2012-11-15 00:00:00
abstract：:We tested the hypothesis that mild and severe ischemic cell damage are reflected in neurological and functional recovery after stroke. Rats were subjected to either 30 min or 120 min of middle cerebral artery occlusion or sham operation. Neurological and functional tests including, gross neurological score, and rotaro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(00)00268-9
更新日期：2000-03-15 00:00:00
abstract：BACKGROUND:Recently, PRRT2 gene mutations have been identified as a causative factor of paroxysmal kinesigenic dyskinesia (PKD). However, evidence is still lacking with respect to the genotype to phenotype correlation in PKD patients. METHODS:We recruited a cohort of PKD patients with or without PRRT2 mutations for th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.02.034
更新日期：2014-05-15 00:00:00
abstract：:As life expectancy increases worldwide, pandemics of cognitive impairment and dementia are emerging as major public health problems. Mild cognitive impairment (MCI), prodromal for dementia, is a descriptive term used for those clinical states showing early and subtle cognitive decline among the elderly, preceding the ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.11.012
更新日期：2005-03-15 00:00:00
abstract：:The diagnosis of vascular dementia (VaD) remains a controversial issue in many aspects and concepts. These nosologic problems are caused both by the methods, insufficient to ascertain the diagnosis, as well as by the weak consistency of the clinical concept of VaD itself. One of the most intriguing issues on VaD, and ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.01.055
更新日期：2007-06-15 00:00:00
abstract：:Gliomas represent approximately one-third of all intracranial tumors in adults and commonly present clinically with seizures. We report two seizure patients with paradoxical imaging findings on preoperative grading of their cerebral gliomas. A 53-year-old man with a history of temporal lobe epilepsy originating from a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.12.029
更新日期：2008-06-15 00:00:00
