Abstract：
:An expanded hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72), on chromosome 9p21, has recently been identified as a major cause of familial frontotemporal dementia (FTD). The neuropathology and clinical characteristics associated with C9ORF72 mutations are heterogeneous with the unknown pathomechanism. These cases were reported with a series of neuropathology, including TDP-43 pathology, ubiquilin (UBQLN) pathology, p62 pathology, microglial pathology, RNA-binding protein pathology and pathology associated with dipeptide-repeat (DPR) proteins. TDP-43 positive neuropathology was important in FTD patients with the mutations. Nevertheless, the majority of reports agree with a special pattern of neuropathology with p62 positive, TDP-43-negative inclusions being a consistent feature. Although subjects with the C9ORF72 mutations more frequently present with earlier onset age, earlier death, a shortened survival and a positive family history, most of the subjects present with typical clinical features of FTD. All these findings support that the C9ORF72 mutations become important newly recognized causes of FTD, providing a more detailed characterization of the associated clinical and pathological features. The following review summarizes the pathological development of FTD associated with C9ORF72, the clinical and pathological features of this cohort, some pathological mechanism hypotheses, and describes their phenotypic range and overlap with other neurodegenerative diseases.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Liu Y,Yu JT,Sun FR,Ou JR,Qu SB,Tan Ldoi
10.1016/j.jns.2013.09.013subject
Has Abstractpub_date
2013-12-15 00:00:00pages
26-35issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(13)02920-1journal_volume
335pub_type
杂志文章,评审abstract：:Previously, we have shown that the N-methyl d-aspartate (NMDA)-receptor antagonist kynurenic acid (KYNA) and its analogue KYNA1 do not bind directly to mu, kappa and delta opioid receptors in vitro. On the other hand, chronic administration of KYNA and KYNA1 resulted in region (cortex vs striatum) and opioid receptor-...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.02.053
更新日期：2017-05-15 00:00:00
abstract：PURPOSES:The control of spasticity is often a significant problem in the management of patients with stroke. The aim of this study was to evaluate the effect of acupuncture treatment on the spastic states of stroke patients. SETTING:An outpatient Acupuncture Department in the First Teaching Hospital of Tianjin Univers...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章,随机对照试验
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更新日期：2009-01-15 00:00:00
abstract：:The specificity of anatomo-clinical observations were investigated on 776 out of 982 consecutive persons hospitalized at the University Psychiatric Clinic of Geneva. Discriminant function analysis shows that most of the anatomical classes (no dementia, senile dementia, Alzheimerized senile dementia and Alzheimer's pre...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90116-1
更新日期：1975-09-01 00:00:00
abstract：:Human carnitine palmitoyltransferase (CPT) deficiency results in 2 clinical forms: a more common "muscular form" with myoglobinuria with or without delayed or impaired ketogenesis and a rare "hepatic form" with hypoketotic hypoglycemia, encephalopathy and seizures without muscular manifestations. We present 2 patients...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90139-1
更新日期：1989-09-01 00:00:00
abstract：:Theory of Mind is an important concept within social cognition and refers to the ability to attribute mental states to oneself and others. Other terms for this concept include mentalizing and mind reading. Deficits in Theory of Mind may contribute to behavioral abnormalities, such as paranoia and delusions that are co...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2011.06.004
更新日期：2011-11-15 00:00:00
abstract：:Prefrontal corticofugal systems, as studied with anterograde HRP histochemistry, revealed projections to preoculomotor and oculomotor centers in the diencephalon and brainstem which may underlie direct cortical influence on eye movement. Because of the location of these preoculomotor trajectories, stimulation and lesi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(81)90029-0
更新日期：1981-03-01 00:00:00
abstract：:Immunolocalization of 14-3-3 proteins in human brains with infarction was investigated using isoform-specific antibodies. Neurons around acute or subacute ischemic foci exhibited an enhanced immunoreactivity for 14-3-3 proteins either in the cytoplasm (especially for its sigma isoform) or in the nucleus (especially fo...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.04.053
更新日期：2007-09-15 00:00:00
abstract：:The distribution of histocompatibility antigens was studied in 44 patients with motor neurone disease (MND). An unusually high incidence of HLA antigens A2 and A28 was found, compared to a control population. ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90236-2
更新日期：1977-06-01 00:00:00
abstract：:Post-stroke epilepsy (PSE) is defined as "recurrent seizures following stroke with confirmed diagnosis of epilepsy". Our objective was to describe the epidemiological, clinical and therapeutic PSE aspects at the Yalgado Ouedraogo Teaching Hospital, the main reference centre for neurological conditions in Burkina Faso....
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.06.038
更新日期：2016-09-15 00:00:00
abstract：OBJECTIVE:The prevalence of Parkinson's disease (PD) and costs of healthcare resources for this disease have been increasing in recent years. The objective was to determine the trends in the resource utilization for PD in Germany. METHODS AND PATIENTS:We compared resource utilization in two cohorts of PD patients recr...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
doi：10.1016/j.jns.2010.04.011
更新日期：2010-07-15 00:00:00
abstract：:There is little information available on the number of patients with movement disorders seen by physicians in Thailand. The authors reviewed the medical records of all movement disorders patients seen at the Chulalongkorn Comprehensive Movement Disorders Center (CUMDS) in Bangkok, Thailand over a 4.5-year period to de...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.11.010
更新日期：2011-02-15 00:00:00
abstract：BACKGROUND:Stroke is one of the most disabling and burdensome health conditions worldwide, but no prospective population-based study has been conducted in Spain. Our aim was to assess age- and gender incidence rates of cerebrovascular disease, including stroke and transient ischemic attack, in three populations in cent...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.08.003
更新日期：2010-11-15 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：:Bilateral striatal necrosis (BSN) has many causes and is characterized by unique clinical and neuroradiological features. Herein, we report a clinical and genetic analysis of three BSN cases from two independent Japanese families harboring a mitochondrial DNA (mtDNA) 14459G>A mutation located in a coding region of the...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.05.015
更新日期：2017-07-15 00:00:00
abstract：:Even though the mesocortical dopamine system is known to play an important role in affect control and reward related behaviour, only little is known about the impact of Parkinson's disease on emotional communication. The ability to perceive and express emotions via speech plays an essential role in every day social li...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2009.08.038
更新日期：2010-02-15 00:00:00
abstract：:To elucidate a possible role of vitamin A in the pathogenesis of Parkinson's disease (PD) we compared serum levels of retinol (vitamin A), measured by HPLC, and the vitamin A/retinol binding protein (RBP) ratio of 42 PD patients (22 males and 20 females, mean age 67.3 +/- 1.34 years) and their respective spouses as co...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(92)90114-z
更新日期：1992-08-01 00:00:00
abstract：:A 66-year-old man presented with right cerebellar infarction and ischemic lesions in the left dorsal thalamus and right upper parietal lobe. Angiography showed occlusion of the right internal carotid artery proximal to an ipsilateral proatlantal artery type I, 70% stenosis of the left internal carotid artery, and apla...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/0022-510x(93)90178-2
更新日期：1993-07-01 00:00:00
abstract：BACKGROUND:Clinical disagreement over antiplatelet (AP) resumption in patients with primary intracranial hemorrhage (ICH) has long existed. This meta-analysis aimed to evaluate the benefits of AP resumption on preventing ischemic or thromboembolic events against its risks of promoting ICH recurrence or hematoma expansi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2017.11.009
更新日期：2018-01-15 00:00:00
abstract：:Vitamin B1- and B-deficient encephalopathy was produced in adult Wistar rats and the effect of methylcobalamin was studied. These experiments were performed in vitamin B1- or B-deficient rats with or without the administration of guanidine, a magnesium antagonist. These encephalopathic rats showed symmetrical lesions ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90210-3
更新日期：1987-01-01 00:00:00
abstract：BACKGROUND:There are conflicting data on the relationship between peripheral arterial disease (PAD) as defined by an ankle-brachial index (ABI) of <0.9 and stroke risk, and these prior data have largely focused on a single race or gender. Furthermore, the association between subsequent ABIs above the established 0.9 th...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.08.016
更新日期：2009-01-15 00:00:00
abstract：INTRODUCTION:In many parts of the developing world, access to physician consultation and neurologic expertise is limited or nonexistent. We conducted a survey among non-physician, primary healthcare workers (PHCWs) to determine the neurological needs and services in rural Zambia. METHODS:Semi-structured written questi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00132-6
更新日期：2002-08-15 00:00:00
abstract：:A point mutation at codon 210 (GTT to ATT) of the prion protein gene on chromosome 20 was found in a 48-year-old CJD-affected woman of a Chinese family. This affected woman had an early onset and long-duration form of CJD. Serial magnetic resonance image (MRI) analysis of this woman showed severe brain atrophy, promin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)00198-0
更新日期：1996-11-01 00:00:00
abstract：BACKGROUND:Anosmia is common in Coronavirus disease 2019, but its impact on prognosis is unknown. We analysed whether anosmia predicts in-hospital mortality; and if patients with anosmia have a different clinical presentation, inflammatory response, or disease severity. METHODS:Retrospective cohort study including all...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117163
更新日期：2020-12-15 00:00:00
abstract：:The N-methyl-D-aspartate (NMDA) receptor is a subtype of ionotropic glutamate receptor that is involved in synaptic mechanisms of learning and memory, and mediates excitotoxic neuronal injury. In this study, we tested the hypothesis that NMDA receptor subunit gene expression is altered in Alzheimer's disease (AD), esp...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00087-4
更新日期：2002-08-15 00:00:00
abstract：:The frequency of senile plaques and neurofibrillary tangles and the number of pyramidal neurones and the volume of their nucleolus were measured in temporal cortex (middle temporal gyrus) and hippocampus (area h1) of 32 patients with Alzheimer's disease. Plaques and tangles were greatly increased in frequency in these...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90129-7
更新日期：1985-07-01 00:00:00
abstract：BACKGROUND:Myosin-IIB is a non-muscle isoform in the brain with increased expression in the brains of diabetic rats. Chronic hyperglycemia caused by diabetes can impair learning and memory. Oral hypoglycemic agents such as glibenclamide have been used to control hyperglycemia. We report changes in the expression and di...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.03.020
更新日期：2014-05-15 00:00:00
abstract：:The histochemical ATPase fibre type pattern was examined in muscle biopsy samples obtained from patients with recessive myotonia, paramyotonia and from one patient with dominant myotonia. Absence (less than or equal to 5%) of 2B fibres was a genuine finding in the minority of the cases. In additional cases of recessiv...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(86)90059-6
更新日期：1986-03-01 00:00:00
abstract：OBJECTIVE:To explore the role of cardiovascular risk factors and the different NOTCH-3 mutations to explain the variability observed in the clinical presentation of CADASIL. METHODS:This was a retrospective cohort study of 331 individuals, 90 were carriers of four mutations in the NOTCH3 gene. These four mutations are...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117178
更新日期：2020-12-15 00:00:00
abstract：:Amyotrophic lateral sclerosis (ALS) mainly affects the motor neurons but may also include other organs such as the skin. We aimed to determine whether matrix metalloproteinases could provide a link between neuronal degeneration and skin alterations in ALS. We measured CSF, serum and skin tissue MMP-2 and MMP-9 using E...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.05.025
更新日期：2009-10-15 00:00:00
abstract：:Hypereosinophilic syndrome represents a rare cause for cerebral infarctions and inflammatory neurological disorders. Various possible pathogenic mechanisms for cerebral infarctions have already been discussed. Complex mechanisms including a local hypercoagulability by eosinophilic granules as well as a direct damage t...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.06.031
更新日期：2015-09-15 00:00:00
