Abstract：
:In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes of Parkinson disease (PD). To evaluate the frequency of R1441C/G/H and G2019S mutations in the LRRK2 gene in North American patients with PD and to explore genotype-phenotype correlations, we screened 496 PD patients from North America. One Hispanic female was heterozygous for the LRRK2 R1441G mutation, and six other cases including 2 non-Jewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation. G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G. All six G2019S carriers shared a common haplotype with that observed in Europeans and North Africans. The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset. These finding may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Deng H,Le W,Guo Y,Hunter CB,Xie W,Huang M,Jankovic Jdoi
10.1016/j.jns.2006.09.017subject
Has Abstractpub_date
2006-12-21 00:00:00pages
102-6issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022-510X(06)00400-Xjournal_volume
251pub_type
杂志文章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：:Depression is frequently associated with Parkinson disease (PD) but neural basis is still unclear. In previous studies white matter changes present as signal hyperintesities on T2-wighted MRI studies (WMHs) commonly observed in older adults have been associated with depressive symptomatology. In this study we investig...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.07.021
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abstract：:Lewis-Sumner syndrome (LSS) is considered a variant of chronic inflammatory demyelinating polyneuropathy (CIDP), which is more frequently described with exclusive upper limb involvement. The diagnosis of LSS is clinical and electrophysiological. However, these are not always obvious and in view of its rarity, the diag...
journal_title：Journal of the neurological sciences
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abstract：BACKGROUND:The accumulation of toxic free radicals plays a pivotal role in the early molecular cascades of blood-brain barrier (BBB) disruption mediated by matrix metalloproteinases (MMPs) activation in ischemic stroke. Theoretically, it is expected that early blockade of activation of MMPs may provide protective effec...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2012.09.021
更新日期：2012-12-15 00:00:00
abstract：:Twelve patients with neurobrucellosis and 17 patients with systemic brucellosis without neurological involvement underwent a brainstem auditory evoked potentials (BAEP) study. All neurobrucellosis patients (100%) showed abnormalities in their BAEP recordings, suggestive of brainstem lesions at various levels. On the o...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90255-9
更新日期：1988-11-01 00:00:00
abstract：PURPOSE:The goal of the present study was to clarify the clinical characteristics and laboratory results of parkinsonian symptoms among patients with and without camptocormia. METHODS:Seventy-eight Parkinson's disease (PD) patients with camptocormia and 78 PD patients without camptocormia underwent a neurological exam...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,多中心研究
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更新日期：2015-11-15 00:00:00
abstract：:The present single center, double-blind, delayed start study was conducted to examine possible symptomatic and disease-modifying effects of GM1 ganglioside in Parkinson's disease (PD). Seventy-seven subjects with PD were randomly assigned to receive GM1 for 120 weeks (early-start group) or placebo for 24 weeks followe...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,随机对照试验
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更新日期：2013-01-15 00:00:00
abstract：:Hyperthermic isolated limb perfusion (HILP) with tumor necrosis factor alpha (TNFalpha) is effective for advanced melanoma and sarcoma of the limbs. Ten patients undergoing HILP with TNFalpha were evaluated by neurological examinations, nerve conduction studies (NCS), sympathetic skin responses (SSR) and conventional ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00098-7
更新日期：1998-06-11 00:00:00
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journal_title：Journal of the neurological sciences
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doi：10.1016/0022-510x(78)90203-4
更新日期：1978-07-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
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更新日期：1990-07-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2015.01.014
更新日期：2015-02-15 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(75)90054-4
更新日期：1975-12-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2007.09.009
更新日期：2008-03-15 00:00:00
abstract：BACKGROUND:Insulin-like growth factor-I (IGF-I) has been shown to protect against stroke in rats when administered intracerebroventricularly. However, this invasive method of administration is not practical for the large number of individuals who require treatment for stroke. Intranasal (IN) delivery offers a noninvasi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00532-9
更新日期：2001-06-15 00:00:00
abstract：PURPOSE:We compared clinical characteristics and outcomes of the early-onset seizure post-stroke patients who had seizures occurring at stroke presentation (SSP) with other patients without SSP at a single institution in Eastern China. METHODS:We reviewed 20,947 ischemic stroke patients in our hospital electronic medi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2018.01.028
更新日期：2018-04-15 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90197-u
更新日期：1990-10-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(77)90017-x
更新日期：1977-07-01 00:00:00
abstract：:Two siblings who exhibited hereditary parkinsonism with pyramidal signs and cerebellar ataxia are reported. Anticholinergics had a dramatic beneficial effect in both cases, but levodopa did not. This responsiveness, which is similar to that reported in patients with Joseph's disease, suggests dysfunction of an "indire...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90028-0
更新日期：1994-09-01 00:00:00
abstract：BACKGROUND:Contrast-induced neurotoxicity (CIN) is a rare complication of neurointerventional procedures and its understanding remains limited. We evaluated the association of CIN with systemic hemodynamics in patients undergoing neuroendovascular interventions. METHODS:We conducted a 1:2 matched case-control study fr...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.117209
更新日期：2021-01-15 00:00:00
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journal_title：Journal of the neurological sciences
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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更新日期：1976-08-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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更新日期：1993-04-01 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00014-x
更新日期：2002-03-30 00:00:00
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journal_title：Journal of the neurological sciences
pub_type： 共识发展会议,杂志文章
doi：10.1016/j.jns.2008.11.015
更新日期：2009-02-15 00:00:00
abstract：OBJECTIVE:To investigate the changes in the expression of repulsive guidance molecule b (RGMb) in brain tissue of rats with ischemic cerebral infarction and determine its relationship with axonal regeneration, synapse remodeling and magnetic resonance imaging (MRI) parameters with magnetic resonance diffusion tensor im...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2017.10.032
更新日期：2017-12-15 00:00:00
abstract：:Cutaneous reflex (CR) was measured in 15 patients with acute lacunar stroke and in 15 age- and sex-matched normal subjects. EMG activities were recorded from the first dorsal interosseous muscle with surface electrodes, rectified and averaged. Intensity of the stimulation on the index finger was four times the sensory...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(98)00142-7
更新日期：1998-07-15 00:00:00
abstract：OBJECTIVES:Abnormal swallowing or dysphagia is a potentially fatal symptom in Parkinson's disease (PD) and is characterized by frequent silent aspiration, which is an unrecognized risk for aspiration pneumonia. While the effects of oral levodopa on swallowing functions remain controversial, several small-scale studies ...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.07.003
更新日期：2019-09-15 00:00:00
abstract：:The Clausen modification of the peripheral blood buffy coat leukocyte migration test was used to test patients with multiple sclerosis, normal subjects and patients with other neurologic diseases for cell-mediated immunity to commercial measles virus, purified nuclear core material from a human neurotropic strain of m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(76)90026-5
更新日期：1976-07-01 00:00:00
abstract：:Neuronal damage seems to be a major source of disability in multiple sclerosis (MS) patients and at present magnetic resonance imaging (MRI) is a sensitive method to evaluate lesion and disease activity. We studied the potential correlation between changes in MS patients' disability after relapse, the degree of T1 les...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00650-5
更新日期：2002-01-15 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
