Abstract:
:Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of hereditary cerebral microangiopathy, and is caused by over 170 different mutations in the NOTCH3 gene at locus 19p13.1-13.26. We report the first study of familial CADASIL in a 39-year-old Jewish woman and her mother who had died previously. The patient's investigations revealed a normal hemogram with no vascular risk factors or chronic disease. Lumbar puncture was normal. Cranial computed tomography scan revealed bilateral diffuse hypodensities in the subcortical white matter. Cranial magnetic resonance imaging showed hyperintense lesions in the cerebral white matter on T2-weighted images. On electron microscopy, a characteristic granular osmiophilic material was seen in the basement membrane surrounding the pericytes and smooth muscle cells in small-sized and medium-sized vessels. Molecular analysis of the NOTCH3 gene was performed with automatic sequencing of exon 3 and 4 (and intron-exon boundaries) showing a nucleotide c.268C > T substitution, leading to a pathogenic amino acid substitution of p.Arg90Cys, confirming a diagnosis of CADASIL. This mutation was also found in the patient's mother. Although the exact prevalence of CADASIL is not known, this disorder has been reported worldwide, and now including Jews, with a genotype and clinical phenotype similar to that in other ethnic groups.
journal_name
Neuropsychiatr Dis Treatjournal_title
Neuropsychiatric disease and treatmentauthors
Shahien R,Bianchi S,Bowirrat Adoi
10.2147/NDT.S19399subject
Has Abstractpub_date
2011-01-01 00:00:00pages
383-90eissn
1176-6328issn
1178-2021pii
ndt-7-383journal_volume
7pub_type
abstract:Aim:This meta-analysis aimed to assess the effect of high-frequency repetitive transcranial magnetic stimulation (HF-rTMS) for the treatment of depression in patients with Parkinson's disease (PD). Methods:The design was a meta-analysis of randomized controlled trials (RCTs). The participants were patients with PD who...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S156695
更新日期:2018-01-11 00:00:00
abstract:BACKGROUND:Burden on caregivers of children/adolescents with attention-deficit/hyperactivity disorder (ADHD) is multidimensional, but incompletely understood. OBJECTIVE:To analyze caregiver burden across the concepts of work, social/family life, and parental worry/stress, in relation to selected contributing factors. ...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S121391
更新日期:2017-02-07 00:00:00
abstract::Whipple disease (WD) is a rare systemic disorder caused by the bacteria Tropheryma whipplei. In its classic form, it manifests with gastrointestinal problems including diarrhea, abdominal pain, and weight loss. However, various other systems can be affected, including the central nervous system (CNS). Even more rarely...
journal_title:Neuropsychiatric disease and treatment
pub_type:
doi:10.2147/NDT.S92066
更新日期:2015-09-25 00:00:00
abstract:AIMS:To estimate differences in the incidence of recorded traumatic head injuries by gender, age, severity, and geographical area. METHODS:The study was prospective and nationwide. Data were collected from all hospitals, emergency units and healthcare centers in Iceland regarding all Icelandic children and adolescents...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/ndt.s2034
更新日期:2007-12-01 00:00:00
abstract:BACKGROUND:Encephalitis with antibodies against N-methyl-D-aspartate receptor (NMDA-R) is classified as an autoimmune disorder with psychotic symptoms, which are frequently dominant. However, it remains unclear how frequently NMDA-R antibodies lead to a condition that mimics psychosis and first-episode schizophrenia. I...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S80746
更新日期:2015-03-06 00:00:00
abstract::At the time of this study, there were five known patients with Wilson disease (WD) in Iceland. The mutation, a 7-bp deletion in exon 7 on chromosome 13 for WD, is only known in Iceland. In twenty healthy Icelandic heterozygotes for WD and their age- and gender-matched controls, copper concentration in plasma, cerulopl...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/ndt.s4360
更新日期:2009-01-01 00:00:00
abstract:Objective:Ser9Gly (rs6280) is a functional single-nucleotide polymorphism (SNP) in the dopamine receptor D3 (DRD3) gene that may be associated with schizophrenia. We performed a meta-analysis to determine whether Ser9Gly influences the risk of schizophrenia and examined the relationship between the Ser9Gly SNP and the ...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S152784
更新日期:2017-11-23 00:00:00
abstract:Purpose:Impairments in intra- and inter-hemispheric information transfer circuits have been reported in patients with major depressive disorder (MDD). However, the specific anomalous connection (intra- and/or inter-hemispheric) and hemisphere (left and/or right) in which this connection plays a more dominant role in th...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S245078
更新日期:2020-06-10 00:00:00
abstract:Purpose:Paliperidone extended release (ER) is an oral psychotropic treatment formulated to release paliperidone at a controlled, gradually ascending rate. We evaluated the efficacy and safety of switching to paliperidone ER in Taiwanese patients with schizophrenia who were unresponsive or intolerant to previous antipsy...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S161186
更新日期:2018-03-08 00:00:00
abstract:BACKGROUND:Occupational stress among mental health nurses may affect their psychological health, resulting in reduced performance. To provide high-quality, sustainable nursing care, it is necessary to identify and control the factors associated with psychological health among mental health nurses. The purpose of this s...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S127053
更新日期:2017-03-13 00:00:00
abstract:Purpose:Sleep difficulties are common in patients with multiple sclerosis (MS), which may increase feelings of fatigue, negatively interfere with daily activities, and consequently reduce their quality of life. Studies examining the effects of sleep-targeted interventions in MS are currently limited in the literature. ...
journal_title:Neuropsychiatric disease and treatment
pub_type:
doi:10.2147/NDT.S249277
更新日期:2020-05-29 00:00:00
abstract:BACKGROUND:The body dysmorphic disorder is prevalent in general population and in psychiatric, dermatological, and plastic-surgery patients, but there lacks a structure-validated, comprehensive self-report measure of body image concerns, which is established through both exploratory and confirmatory factor analyses. M...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S138762
更新日期:2017-05-29 00:00:00
abstract::Few data are available on the applicability of both the criteria proposed by Silberstein and Lipton (S-L) and the International Classification of Headache Disorders-II (ICHD-II) in the classification of children and adolescents with chronic daily headache (CDH). The International Headache Society recently added revise...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/ndt.s2230
更新日期:2008-02-01 00:00:00
abstract:BACKGROUND:Electroconvulsive therapy (ECT) is commonly used to treat depression in older adults. Despite its efficacy in this regard, an associated increase in the risk of falls in this population is a downside of treatment. ECT research has focused on the incidence of falls, but its effect on balance and gait - intrin...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S42628
更新日期:2013-01-01 00:00:00
abstract:Purpose:Numerous preclinical studies have demonstrated the potential neuroprotective effects of N-acetylcysteine (NAC) in the treatment of brain ischemia. Accordingly, the present study aimed to assess the potential therapeutic effects of oral NAC in patients with acute ischemic stroke. Patients and Methods:In a rando...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S241497
更新日期:2020-05-18 00:00:00
abstract:Purpose:The purpose of this study was to examine alexithymia among restless legs syndrome (RLS) patients, compare with healthy controls, and argue the clinical inferences of this relationship. We searched for anxiety and depression and their clinical outcomes among patients and searched whether the results are similar ...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S174552
更新日期:2018-08-29 00:00:00
abstract::Autism spectrum disorder (ASD) is a highly complex and heterogeneous developmental disorder that affects how individuals communicate with other people and relate to the world around them. Research and clinical focus on the behavioural and cognitive manifestations of ASD, whilst important, have obscured the recognition...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章,评审
doi:10.2147/NDT.S251394
更新日期:2020-06-30 00:00:00
abstract:Background:It has been suggested that autism spectrum disorder (ASD) might be a "comorbid" condition in selective mutism (SM). Methods:In this retrospective study, we examined medical records of children with SM diagnosis (n=97) at a medical center specializing in assessment of ASD. Results:Mean age for onset of SM s...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S154966
更新日期:2018-05-07 00:00:00
abstract::Neuropsychiatric symptoms are common in older adults with dementia and can be associated with a rapid decline in cognitive and functional status. This article reviews the current literature supporting the use of atypical antipsychotic medications in this population. Among the currently available atypical antipsychotic...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/nedt.2006.2.4.521
更新日期:2006-12-01 00:00:00
abstract::Autism spectrum disorder (ASD) is a common neurodevelopmental disorder characterized by pervasive difficulties since early childhood across reciprocal social communication and restricted, repetitive interests and behaviors. Although early ASD research focused primarily on children, there is increasing recognition that...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章,评审
doi:10.2147/NDT.S65455
更新日期:2016-07-07 00:00:00
abstract:BACKGROUND:Decreased relapse rate and slower disease progression have been reported with long-term use of immunomodulatory treatments (IMTs, interferon beta or glatiramer acetate) in relapsing-remitting multiple sclerosis. There are, however, patients who do not respond to such treatments, and they can be potential can...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S36771
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Repetitive transcranial magnetic stimulation (rTMS) of the dorsolateral prefrontal cortex (DLPFC) appears to have short-term antidepressant properties. The aim of the current study was to update our previous meta-analysis and to investigate factors associated with the antidepressant properties of rTMS. METH...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S58405
更新日期:2014-05-07 00:00:00
abstract:Purpose:Ginkgo biloba extract (GBE) contains diterpene ginkgolides (DGs), which have been shown to have neuroprotective effects by a number of previous studies. We previously demonstrated part of the action of DG. However, the impact of DG on the prefrontal cortex (PFC) remains unclear. Here, we evaluated the effects o...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S161351
更新日期:2018-04-13 00:00:00
abstract::Dopaminergic agents, anticonvulsants, benzodiazepines, opiates, and iron supplementation comprise the classes of medications commonly used to treat restless legs syndrome (RLS), which is a disorder that is estimated to affect about 1 in 10 individuals worldwide and impacts an affected patient's sleep, mood, daytime fu...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/nedt.2006.2.4.407
更新日期:2006-12-01 00:00:00
abstract::Studies that have carried out experimental evaluation of emotional skills in alcohol-dependence have, up to now, been mainly focused on the exploration of emotional facial expressions (EFE) decoding. In the present paper, we provide some complements to the recent systematic literature review published by Donadon and d...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S74963
更新日期:2014-11-18 00:00:00
abstract:BACKGROUND:In recent years, great attention has been given to the presence of psychological problems and psychiatric comorbidity that are also present in children affected by primary headaches. The relationship between pain and attachment has been identified, and it may be that pain perception may change in relation wi...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S52716
更新日期:2013-01-01 00:00:00
abstract:Aim of the study:Genetic (idiopathic) generalized epilepsies (GGEs) account for nearly one-third of all epilepsies. The frequency of status epilepticus (SE) in patients with GGEs has been poorly studied. Therefore, this study aimed to evaluate the frequency of different forms of SE in a cohort of patients with GGEs. M...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S209084
更新日期:2019-06-20 00:00:00
abstract:Introduction:Night-eating syndrome (NES) involves uncontrolled and most often repeated binge eating during the night. It is related with mood disorders as well as sleep disorders and it may cause obesity. Risks related to NES are obesity, binge eating disorder, bulimia nervosa, affective disorders, and sleep disorders....
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S159562
更新日期:2018-06-13 00:00:00
abstract:OBJECTIVE:This study provides insight into the thoughts and opinions of geriatric health-care professionals toward cognitive assessments and the use of emerging technologies, such as eye-tracking, to supplement current tools. METHODS:Two focus group sessions were conducted with nurses and physicians who routinely admi...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/NDT.S82881
更新日期:2015-06-12 00:00:00
abstract::Traumatic brain injury (TBI) is widespread and leads to death and disability in millions of individuals around the world each year. Overall incidence and prevalence of TBI are likely to increase in absolute terms in the future. Tackling the problem of treating TBI successfully will require improvements in the understa...
journal_title:Neuropsychiatric disease and treatment
pub_type: 杂志文章
doi:10.2147/ndt.s1985
更新日期:2008-10-01 00:00:00