Abstract:
OBJECTIVES:The LRRK2-G2019S mutation is the most common cause of Parkinson's disease (PD) in North Africa. G2019S-PD has been described as similar to idiopathic with minor clinical differences. The aim of this study was to determine the G2019S-related phenotype and to investigate gender and gene dosage effects on clinical features of G2019S carriers. PATIENTS AND METHODS:The G2019S mutation was screened in 250 Tunisian patients with PD. Twenty-four patients carrying mutations in other PD genes were excluded. Logistic regression models were used to compare clinical features between the studied groups. RESULTS:G2019S carriers (107 cases) and non-carriers (119 cases) were similar in disease duration, levodopa doses, and gender and phenotype distributions. However, carriers had a younger age at examination, higher level of education, and were more likely to report family history of PD and to develop PD at earlier age (P = 0.017). Adjusted for age, sex, disease duration, levodopa-equivalent dose and educational level, MMSE scores remained significantly higher (adjust P = 0.019) and UPDRS-III scores were lower (adjust P = 0.012) in the G2019S carriers than non-carriers. Demographic characteristics of men and women with G2019S mutation were similar, but men had higher level of education, better cognition (adjust P-value for educational level = 0.042) and less tendency towards depression than females (adjust P = 0.046). Furthermore, PD phenotype did not differ between the homozygous and heterozygous G2019S carriers. CONCLUSION:In this study, G2019S carriers had a more benign phenotype than non-carriers. Cognitive impairment and depression were less common in G2019S male carriers compared with females. In addition, we found that LRRK2 gene dosage does not influence the severity of PD.
journal_name
Acta Neurol Scandjournal_title
Acta neurologica Scandinavicaauthors
Ben Romdhan S,Farhat N,Nasri A,Lesage S,Hdiji O,Ben Djebara M,Landoulsi Z,Stevanin G,Brice A,Damak M,Gouider R,Mhiri Cdoi
10.1111/ane.12996subject
Has Abstractpub_date
2018-11-01 00:00:00pages
425-431issue
5eissn
0001-6314issn
1600-0404journal_volume
138pub_type
杂志文章abstract::For patients with Parkinson's disease (PD), excessive daytime sleepiness (PD-EDS) is a debilitating non-motor symptom and may be affected by mood symptoms, especially depression and anxiety. Few neuroimaging works have attempted to identify the neural features of PD-EDS, but various findings were reported. The purpose...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.12704
更新日期:2017-08-01 00:00:00
abstract:OBJECTIVES:Baseline brain single-photon emission computed tomography (SPECT) can predict mild cognitive impairment (MCI) patients at risk for progressive MCI (PMCI). METHODS:Twenty-eight subjects [12 MCI, 6 with probable Alzheimer's Disease (AD), and 10 normal subjects] underwent baseline brain SPECT and were clinical...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2006.00661.x
更新日期:2006-08-01 00:00:00
abstract::The possible association of 7 HLA specificities in the HLA-A locus and 16 specificities in the HLA-B locus with susceptibility to Parkinsonian syndrome was investigated in a total of 36 patients with paralysis agitans (PA), as well as in 11 patients with other Parkinsonian syndromes, and 176 controls in Japan. There w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1982.tb03147.x
更新日期:1982-11-01 00:00:00
abstract:OBJECTIVES:To clarify the clinical variability, including central nervous system (CNS) involvement, in X-linked Charcot-Marie-Tooth disease (CMTX) patients. MATERIAL AND METHODS:We clinically, pathologically and genetically studied six CMTX patients with distinct symptoms and four different GJB1 mutations. RESULTS:On...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.01317.x
更新日期:2003-01-01 00:00:00
abstract::We investigated the EEG frequency distribution by quantitative EEG (QEEG) in 28 children with type 1 diabetes and 28 age- and sex-matched control children. Among the diabetic children, 15 had experienced episodes of severe hypoglycemia (SH group) and 13 had not experienced such episodes (non-SH group). The EEG analysi...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1600-0404.1996.tb00017.x
更新日期:1996-06-01 00:00:00
abstract::This article reports the case of a man who developed a pure motor paraplegia following epidural anesthesia with a pattern of slow recovery over subsequent months. Reviewing the available literature on post-epidural paraplegia we noted a number of potential etiologies and analyzed their role in its causation. On the ba...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1985-10-01 00:00:00
abstract:OBJECTIVE:To investigate the prevalence of G88C, G209A and any other mutation(s) in exons 3 and 4 of the alpha-synuclein gene in Indian patients with Parkinson's disease (PD). METHODS:A total of 169 PD patients comprising 18 familial, 3 juvenile, 48 early onset and 100 sporadic cases were included in this study. Genom...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2001.103002120.x
更新日期:2001-02-01 00:00:00
abstract::There is evidence from several laboratories of an increased prevalence of circulating immuno-complexes (CIC) in diabetic patients. It has also been suggested that CIC are pathogenetically related to chronic diabetic complications. The aim of this study was to assess peripheral nerve function in children with Type 1 di...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1991.tb04672.x
更新日期:1991-03-01 00:00:00
abstract:OBJECTIVES:To investigate the effect of caudal zona incerta-deep brain stimulation (cZi-DBS) on word-level speech intelligibility in patients with Parkinson's disease, under both an optimal listening condition and a simulated more naturalistic listening condition. MATERIALS AND METHODS:Spoken single words were extract...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/ane.12210
更新日期:2014-07-01 00:00:00
abstract::In 30 ischemic stroke patients, divided into 2 groups depending on the side of their hemispheric cerebral lesion, the authors evaluated the levels of CSF homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA). The changes of these metabolites in CSF samples collected 3, 14 and 25 days after stroke have been c...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb04603.x
更新日期:1986-06-01 00:00:00
abstract::EEG, regional cerebral blood flow (rCBF) and neuropathological autopsy data were studied in 17 patients with presenile dementia. RCBF was measured in 14 cases using the intra-arterial-133-Xenon clearance technique. The neuropathological study included semi-serial whole brain microscopical sections in which the severit...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1977.tb01414.x
更新日期:1977-08-01 00:00:00
abstract::The catabolism of orally and subcutaneously administered 14C histamine was studied in myotonic dystrophy patients. No definite abnormalities were observed as for subcutaneously administered histamine. The catabolism of orally administered histamine followed two distinct patterns: In patients with a relatively low endo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1977.tb01449.x
更新日期:1977-11-01 00:00:00
abstract:OBJECTIVES:This study aimed to investigate whether neurological disability status, heart rate variability (HRV), cardiorespiratory fitness (CRF) explained the variance in depressive symptoms in multiple sclerosis (MS). METHODS:Associations between CRF (via maximal oxygen uptake; VO2peak ), HRV indices of normalized ul...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12748
更新日期:2017-11-01 00:00:00
abstract::Botulinum toxin serotype A (BoNT/A) was originally used in neurology for the treatment of dystonia and blepharospasms, but is now clinically used worldwide for the treatment of chronic migraine. Still, the possible mode of action of BoNT/A in migraine is not fully known. However, the mode of action of BoNT/A has been ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.12906
更新日期:2018-05-01 00:00:00
abstract::Among industrial solvents in present use trichloroethylene belongs to those which have been the concern of most neurological and occupational investigations since the beginning of this century. Reports on a broad spectrum of neurotoxicity are however mostly based on case-studies and accidental circumstances. The objec...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1993.tb04101.x
更新日期:1993-03-01 00:00:00
abstract:OBJECTIVES:Health-related quality of life (HRQL) has become an important outcome criterion of medical interventions, but was hardly studied in patients with facial spasms. MATERIALS AND METHODS:Patients with blepharospasm or hemifacial spasm treated with botulinum toxin were included. A healthy control group sociodemo...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.2004.00357.x
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVE:To describe spinal epidural abscess after treatment with rituximab. METHODS:Report of a new case of cervical epidural spinal abscess after treatment with rituximab and review of the literature. RESULTS:Biologic agents are associated with an increased risk of serious infections, there are only few reports of...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12506
更新日期:2016-05-01 00:00:00
abstract::Previous reports concerning the treatment of symptoms deriving from prolapsed lumbar disc with systemic administration of the potent steroid dexamethasone, have shown favourable results. The present clinical study includes 39 patients with symptoms of prolapsed lumbar disc, treated in a controlled double-blind investi...
journal_title:Acta neurologica Scandinavica
pub_type: 临床试验,杂志文章
doi:10.1111/j.1600-0404.1982.tb03055.x
更新日期:1982-01-01 00:00:00
abstract::Patients with homocystinuria excrete a large amount of metal in their urine. Homocysteine similar to penicillamine, administration to methylmercury treated rats resulted in a large amount of urinary methylmercury excretion. These results suggested that the total metal amounts in the whole body of patients with homocys...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1992.tb05130.x
更新日期:1992-11-01 00:00:00
abstract:OBJECTIVE:Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a severe autoimmune disorder with a mortality of 5%-7%, but few studies have focused on the predictors of death in this disease. In this study, we aim to investigate predictors and causes of death in patients with anti-NMDAR encephalitis. METHODS:In ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.12723
更新日期:2017-10-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to clarify etiologic factors, prior symptoms and clinical features of isole superior cerebellar artery (SCA) territory infarcts. METHODS:All data were collected from consecutive 21 patients with isole SCA infarcts involved on computerized tomography. RESULTS:The risk factors i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1998.tb07310.x
更新日期:1998-10-01 00:00:00
abstract::Isoelectric focusing and agarose gel electrophoresis of CSF and serum revealed similar frequencies of oligoclonal bands in multiple sclerosis (100% with both methods), infectious CNS disorders (38 and 23%) and other neurological diseases (8 and 10%). In selected cases with unsure CSF oligoclonal bands on agarose gel e...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1978.tb02874.x
更新日期:1978-09-01 00:00:00
abstract::In order to evaluate the prognosis and possible prognostic factors associated with a bening course, 118 cases of motor neuron disease diagnosed 1948-1975 were followed up. Survival curves, based on the actuarial method showed a survival rate of 18.7 per cent (95 per cent confidence limits: 11.4-26.0) and 7.6 per cent ...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:
更新日期:1977-10-01 00:00:00
abstract:OBJECTIVE:Individuals with Parkinson's disease (PD) and freezing of gait (FOG) present peripheral and central sensitivity disturbances that impair motor performance. This study aimed to investigate long-term effects of plantar sensory stimulation on brain activity, brain connectivity, and gait velocity of individuals w...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,随机对照试验
doi:10.1111/ane.13253
更新日期:2020-09-01 00:00:00
abstract::Three patients are described with muscular dystrophy and contractures. Although this disorder bears similarities to Emery-Dreifuss disease and variants previously described, absence of cardiomyopathy is a distinguishing feature. Electrodiagnostic testing and muscle biopsy are consistent with a myopathy. An autosomal d...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/j.1600-0404.1986.tb03302.x
更新日期:1986-04-01 00:00:00
abstract:OBJECTIVES:To describe two patients with progressive external ophthalmoplegia (PEO) and mitochondrial myopathy associated with mutations in mitochondrial DNA, encoding the tRNAAsn gene (MT-TN), which have not previously been published with clinical descriptions. MATERIALS & METHODS:Two unrelated patients with PEO were...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13339
更新日期:2020-08-31 00:00:00
abstract:OBJECTIVES:To examine the mechanisms of alternative strategies developed by stroke patients to compensate their motor impairment and their role in recovery. MATERIAL AND METHODS:The three-dimensional kinematics of the upper limb were quantified during unconstrained reaching movements in seven healthy individuals and i...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1034/j.1600-0404.2003.00021.x
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:LMNB1-related autosomal dominant leukodystrophy is caused by an overexpression of the protein lamin B1, usually due to a duplication of the LMNB1 gene. Symptoms start in 5th to 6th decade. This slowly progressive disease terminates with death. We studied brain glucose metabolism in this disease using 18 F-flu...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章
doi:10.1111/ane.13024
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVE:We performed a systematic review and meta-analysis to evaluate the proposed association of restless legs syndrome (RLS) with cerebrovascular/cardiovascular outcomes. METHODS:We calculated the corresponding odds ratios on the prevalence of cerebrovascular/cardiovascular risk factors and standardized mean diff...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,meta分析,评审
doi:10.1111/ane.12848
更新日期:2018-01-01 00:00:00
abstract::This study aimed to systematically review the literature on the epidemiology of epilepsy in Iran and to provide analytical estimates of the prevalence of various epilepsy syndromes. MEDLINE, Scopus, and Embase from inception to 30 July 2020 were systematically searched. These key words were used: "epilepsy" OR "seizur...
journal_title:Acta neurologica Scandinavica
pub_type: 杂志文章,评审
doi:10.1111/ane.13381
更新日期:2020-11-22 00:00:00