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 and attitude towards predictive genetic testing of PD in two independent centers in America and Asia involving PD patients and caregivers. METHODS:In a prospective study involving 515 subjects comprising of PD patients and their caregivers in two independent centers in America and Asia, the level of knowledge about genetic testing and patients' attitudes towards such testing were evaluated using a standardized questionnaire. RESULTS:American PD patients had a higher level of knowledge of PD genetics than Asian PD (31.1% vs. 12.3%, p=0.0002). A greater number of American PD patients and caregivers reported a positive attitude towards the potential medical benefits of genetic testing compared to their Asian counterparts (85.4% vs. 42.2%, 92.2% vs. 32.1%, p<0.00005), but a more negative attitude towards potential compromise in getting health and life insurance (43.7% vs. 25.8%, p=0.0002). However, in the Asian cohort, multivariate analysis revealed that a high level of genetics knowledge was associated with a positive attitude response regarding the potential medical benefits of testing (p<0.0005), but a negative attitude towards compromises in healthcare and life insurance, getting a job and starting a family (p<0.0005). These associations were not observed amongst American subjects. CONCLUSIONS:The relationship between level of genetic knowledge and attitude towards potential risks and benefits of predictive genetic testing in PD was distinctly different in two independent, racially and culturally different PD populations and caregivers. These observations have clinical implications in the development of PD genetic counseling programs.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Tan EK,Lee J,Hunter C,Shinawi L,Fook-Chong S,Jankovic Jdoi
10.1016/j.jns.2006.10.016subject
Has Abstractpub_date
2007-01-31 00:00:00pages
113-20issue
2eissn
0022-510Xissn
1878-5883pii
S0022-510X(06)00496-5journal_volume
252pub_type
杂志文章,多中心研究abstract::Leucine-rich repeats and immunoglobulin-like domains (LRIG) 3 gene is mapped to chromosome 12q13.2, a region that is frequently deleted in a subset of glioblastoma multiforme (GBM). It has been reported that perinuclear LRIG3 staining correlated with low WHO grade of glioma and better survival of the patients. However...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2015.02.015
更新日期:2015-03-15 00:00:00
abstract:OBJECTIVE:To determine the sensitivity and specificity of clonal immunoglobulin heavy chain gene rearrangement (IGHR) analysis in the distinction of benign and malignant lymphoproliferative diseases. METHODS:A retrospective analysis was conducted of patients in whom a malignant lymphoproliferative process was suspecte...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2006.05.044
更新日期:2006-09-25 00:00:00
abstract::Here we report a case with positive serum anti-aquaporin 4 (AQP4) antibody who presented with hypersomnolence, symmetrical hypothalamic lesions and a reduced CSF orexin (hypocretin) level without optic nerve and spinal cord lesions on MRI. All of the symptoms, MRI finding and CSF orexin level improved simultaneously a...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.08.031
更新日期:2012-01-15 00:00:00
abstract:OBJECTIVES:To examine whether quantitative analysis of the brainstem areas on magnetic resonance imaging (MRI) scans is useful for diagnosis as well as evaluation of disease activity in chronic progressive neuro-Behçet's disease (CPNB). METHODS:MRI scans in patients with acute neuro-Behçet's disease (ANB) (n = 10), CP...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2013.11.020
更新日期:2014-02-15 00:00:00
abstract:BACKGROUND:The pathogenesis of PD remains elusive. The renin-angiotensin-system (RAS) has recently been implicated in the degeneration of dopaminergic neurons. This study aimed to compare plasma levels of components of the RAS of individuals with PD with controls. We also investigated the association between these circ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2016.07.031
更新日期:2016-09-15 00:00:00
abstract:BACKGROUND:Although predominantly reported in patients with status epilepticus, periictal MRI abnormalities have been reported in patients with a single or a cluster of seizures. Clinicians are often presented with a dilemma concerning the features of MRI abnormalities induced by a single or a cluster of seizures, as t...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2014.06.001
更新日期:2014-08-15 00:00:00
abstract::We report on a four-year-old girl with head trauma caused by a motor vehicle accident. She presented with delirium, oculomotor palsy and ptosis in her left eye, left hemiparesis, and pyramidal signs in all extremities. Computed tomography on the day of admission showed diffuse cerebral edema with right-sided predomina...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2007.06.048
更新日期:2007-12-15 00:00:00
abstract::Cathepsin B (CB) activity was measured in aqueous extracts of frozen autopsy specimens of centrum semiovale from three MS patients, five control patients with other neurological diseases, and five normal individuals. Mean activity was significantly increased in the MS tissue compared with controls. The mean activity i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(95)00039-5
更新日期:1995-07-01 00:00:00
abstract::Cutaneomuscular reflexes have been recorded from the first dorsal interosseous muscle during a sustained abduction of the index finger of 20 subjects (25 recordings) following stimulation of the digital nerves at the following frequencies: 2 Hz, 3 Hz, 5 Hz, 7 Hz and 9 Hz, presented in random order. Five hundred stimul...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00326-9
更新日期:2000-08-01 00:00:00
abstract::Four of 8 definite heterozygous female carriers determined by PCR amplification of tandem CAG repeat of the AR gene, from 4 families of X-linked recessive bulbospinal neuronopathy (X-BSNP) showed extensive high amplitude motor unit potentials in examined muscles although all subjects were neurologically normal. Plasma...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(93)90157-t
更新日期:1993-07-01 00:00:00
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 pathom...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2013.09.013
更新日期:2013-12-15 00:00:00
abstract::The aim of this study was to review the epidemiological and clinical characteristics of neuromyelitis optica (NMO) and the immunopathological mechanisms involved in the neuronal damage. NMO is an inflammatory demyelinating autoimmune disease of the central nervous system that most commonly affects the optic nerves and...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2015.05.034
更新日期:2015-08-15 00:00:00
abstract::In previous work we demonstrated little effect of aging on the density and spatial pattern of epidermal innervation, however, this was restricted to two sites proximal and distal in the leg. To expand on these observations, we used punch skin biopsy in ten healthy controls to examine the variation in intra-epidermal n...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(99)00063-5
更新日期:1999-04-01 00:00:00
abstract::In order to develop a greater understanding of the importance of peptide catabolism in the intracellular protein degradation process in normal and pathological human brain, we have undertaken a systematic investigation of the aminopeptidase group of enzymes. Although a wide range of aminoacyl-7-amino-4-methylcoumarin ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(89)90024-5
更新日期:1989-02-01 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::The present study shows biochemical data on skeletal muscle from 5 patients with Kearns-Sayre syndrome (KSS). Enzyme activities per muscle wet weight in the electron transport system of inner mitochondrial membrane were not significantly different in KSS from those in normal subjects except one patient with long durat...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(85)90037-1
更新日期:1985-11-01 00:00:00
abstract::gamma-Glutamyl transpeptidase, a membrane-bound enzyme playing an important role in the active amino acid transport across cellular membranes, is shown to be elevated in the serum of patients with myotonic muscular dystrophy. No increase of AP, LAP, GOT and GPT activities in the sera of some of the patients studied is...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(76)90105-2
更新日期:1976-06-01 00:00:00
abstract::Neurological injuries produced by explosive blasts are the result of a cascade of events that begin with the initial explosion and evolve from the secondary, tertiary, and quaternary effects that the explosion engenders [Lavonis EJ. Blast Injuries. EMedicine.htm]. Only the results of the primary blast are predictable,...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,评审
doi:10.1016/j.jns.2006.06.005
更新日期:2006-11-01 00:00:00
abstract:BACKGROUND:Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disease characterized by progressive degeneration of spinal and bulbar motor neurons. However up to 50% ALS patients may also have cognitive dysfunction which has not been fully examined. METHODS:35 ALS patients [23 patients presenting with limb...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2012.04.020
更新日期:2012-08-15 00:00:00
abstract:BACKGROUND:Percutaneous endoscopic gastrostomy (PEG) is offered to amyotrophic lateral sclerosis (ALS) patients with severe dysphagia. Immediate benefits of PEG are adequate food intake and weight stabilization. However, the impact of PEG on survival is still uncertain. In this work we retrospectively evaluated the eff...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.02.016
更新日期:2011-05-15 00:00:00
abstract::We examined 19 muscle biopsies from 14 patients with autosomal recessive distal muscular dystrophy (DisMD) histochemically and immunohistochemically to characterize the histologic features of this disease and to determine whether dystrophin and dystrophin-associated proteins (DAPs) are normally present in the muscles ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)90096-5
更新日期:1994-10-01 00:00:00
abstract::The aim of the present study was to evaluate whether intravenous methylprednisolone (IVMP) pulses affect the confluence and enlargement of T2 lesions in the long term in patients with relapsing-remitting (RR) multiple sclerosis (MS). Of 88 RR MS patients, randomly assigned to regular pulses of IVMP (1 g/day for 5 days...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jns.2007.09.025
更新日期:2008-04-15 00:00:00
abstract::Fifteen Moroccan families with a phenotype resembling Friedreich Ataxia (FA) were studied. Seven families (13 patients) had the 744 del A mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene, characteristic of ataxia with vitamin E deficiency (AVED). The other eight families (16 patients) had GAA expansi...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(02)00057-6
更新日期:2002-06-15 00:00:00
abstract:INTRODUCTION:'No evidence of disease activity' (NEDA) is increasingly used as a treatment target with disease-modifying drugs for relapsing multiple sclerosis. METHODS:This post-hoc analysis of the randomised EVIDENCE trial compared interferon beta-1a injected subcutaneously three times weekly (IFN β-1a SC tiw) with i...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jns.2017.05.052
更新日期:2017-08-15 00:00:00
abstract:OBJECTIVE:To investigate the effect of mild cognitive impairment (MCI) on balance. METHODS:87 subjects with subjective memory impairment were enrolled, and subdivided into two groups, MCI and non-MCI, according to diagnostic criteria of amnestic subtype of MCI according to the 1999 MCI international panel (Current Con...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.02.031
更新日期:2011-06-15 00:00:00
abstract::Chronic parenteral administration of beta-beta'-iminodipropionitrile (IDPN) in adult female rats induces large neurofilament-rich axonal spheroids (AXS) in spinal motor neurons closely resembling those AXS in early phases of amyotrophic lateral sclerosis. Immunohistochemistry of advanced glycosylation end-products (AG...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/s0022-510x(00)00355-5
更新日期:2000-08-15 00:00:00
abstract:BACKGROUND:Interleukin 17 (IL-17) plays an important role in many autoimmune diseases including neuromyelitis optica (NMO) and multiple sclerosis (MS), which are inflammatory demyelinating diseases of the central nervous system. A large number of non-HLA single nucleotide polymorphisms have been reported to increase th...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/j.jns.2011.11.005
更新日期:2012-03-15 00:00:00
abstract::Editing of the video image in computerized image analysis is readily accomplished with the appropriate apparatus, but slows the assay very significantly. In dealing with the cerebral cortex, however video editing is of considerable importance in that cells are very often contiguous to one another or are partially supe...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(82)90239-8
更新日期:1982-03-01 00:00:00
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::A study was made of Wistar rat soleus muscle following intraperitoneal administration of denervated muscle extract over 1 and 2 days. Light microscopy revealed the appearance on fiber surfaces of basophilic satellite structures whose histochemical behaviour differed from that of the parent fiber. Small fibers showing ...
journal_title:Journal of the neurological sciences
pub_type: 杂志文章
doi:10.1016/0022-510x(94)00212-7
更新日期:1995-01-01 00:00:00