Abstract:
:Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome-like phenotype emphasizing their clinical and neuroimaging features.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Felicio AC,Godeiro-Junior C,Alberto LG,Pinto AP,Sallum JM,Teive HG,Barsottini OGdoi
10.1016/j.parkreldis.2007.08.008subject
Has Abstractpub_date
2008-01-01 00:00:00pages
370-2issue
4eissn
1353-8020issn
1873-5126pii
S1353-8020(07)00175-7journal_volume
14pub_type
杂志文章abstract:BACKGROUND:Oxidative stress is causally associated with the pathogenesis of Parkinson's disease (PD). Oxygen generates a large amount of reactive oxygen species (ROS). ROS including hydroxyl radicals and H(2)O(2) react with guanine residues in DNA and produce 8-hydroxydeoxyguanosine (8-OHdG). 8-OHdG serves as a biomark...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.11.004
更新日期:2011-01-01 00:00:00
abstract:INTRODUCTION:Gait and balance impairments are cardinal features of Parkinson's disease (PD) that require cognitive input. However, the extent to which specific gait and balance characteristics relate to cognition in PD is unclear. In addition, independent models of gait and balance have not been developed from the same...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.06.014
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:Balance training has been demonstrated to improve postural control in patients with Parkinson's disease (PD). The objective of this pilot randomized clinical trial was to investigate whether a balance training program using augmented visual feedback is feasible, safe, and more effective than conventional bal...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/j.parkreldis.2014.09.022
更新日期:2014-12-01 00:00:00
abstract:INTRODUCTION:Cognitive decline is common in Parkinson's disease (PD), and identifying patients at highest risk for it is essential. We aimed to examine the effect of possible REM sleep behavior disorder (pRBD) on rate of cognitive decline in early PD, for both global cognition and in specific cognitive domains. METHOD...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2016.03.006
更新日期:2016-06-01 00:00:00
abstract::Duplications and triplications of the alpha-synuclein (SNCA) gene have been reported in Parkinson's disease patients belonging to the Southern Swedish "Lister family". Further genealogical research has now shown that these individuals are descended from a large kindred characterized by Herman Lundborg in 1901-1913. In...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2008.08.002
更新日期:2009-06-01 00:00:00
abstract::An international panel of movement disorders specialists explored the views and perceptions of people with Parkinson's disease (PD) about their condition and its treatment, including the potential mismatch between the clinician's view of the patient's condition and their own view of what aspects of the disease most af...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.02.013
更新日期:2020-03-01 00:00:00
abstract:INTRODUCTION:There is considerable intra- and inter-individual variability in the pharmacokinetics (PK) of levodopa after oral administration. Inter-individual variability in levodopa PK has also been demonstrated in fasting single-dose studies. We examined the factors that affect levodopa PK in patients with Parkinson...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.020
更新日期:2020-07-01 00:00:00
abstract:INTRODUCTION:The deep brain stimulation (DBS) withdrawal syndrome (DBS-WDS) is a rare, life-threatening complication in Parkinson's disease (PD) patients with long disease duration and stimulation when stimulation is terminated for extended periods mostly due to infection of the DBS-hardware. METHODS, RESULTS:In five ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.06.035
更新日期:2018-11-01 00:00:00
abstract::Mean body mass index (BMI) in 100 cases of idiopathic Parkinson's disease (PD) was found to be 9% reduced in comparison to that in patients with either essential tremor or no neurologic disease. A similar reduction in BMI was also discovered among the 24 cases of PD in whom retrospective BMI data were available from t...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2004.07.001
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Hyposmia is a common non-motor symptom in Parkinson's disease (PD). However, patients with PD are sometimes unaware of their olfactory dysfunction, resulting in an under-diagnosis of this symptom. To determine whether the loss of awareness of hyposmia results from cognitive impairment in patients with PD, we...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.11.015
更新日期:2016-01-01 00:00:00
abstract::Parkinson's disease (PD) is a progressive, disabling, neurodegenerative disease that requires long term care and pharmaceutical treatment. Levodopa remains the gold standard treatment for PD globally, although it is largely unavailable and unaffordable for the majority of patients in many sub-Saharan African and other...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.03.002
更新日期:2020-04-01 00:00:00
abstract:INTRODUCTION:The reduction of background activity and the increase of low-frequency powers on electroencephalogram (EEG) correlate with cognitive impairment and have been suggested to be underpinned by cholinergic deficit. We aimed to investigate the ratio between α and θ band power (α/θ ratio), as a synoptic index of ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.05.007
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Non-motor symptoms (NMS) are common in Parkinson's disease (PD) and cause significant distress. A high rate of non-declaration of NMS by patients to healthcare providers (HCP) means that many NMS remain untreated. Current understanding of the factors preventing disclosure of NMS to HCPs is limited. The prese...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.04.014
更新日期:2019-07-01 00:00:00
abstract:INTRODUCTION:Increasing evidence shows a strong association between idiopathic REM sleep behavior disorder (iRBD) and α-synucleinopathies. Recent studies have indicated an inflammatory mechanism in the pathogenesis of α-synucleinopathies. Whether peripheral inflammatory cytokines are altered in iRBD and can be biomarke...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.07.017
更新日期:2020-09-01 00:00:00
abstract:INTRODUCTION:It is well known that α-synuclein (SNCA) and microtubule associated protein (MAPT) genes predispose individuals to develop Parkinson's disease (PD). However, whether these genes contribute to differences in the variable progression observed in PD is obscure. This study aims to evaluate the association of c...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.12.018
更新日期:2016-03-01 00:00:00
abstract:INTRODUCTION:Patients with Parkinson disease (PD) and their partners may experience a worsening of their sexual life. AIM:To assess quality of sexual life (QoSL) in male and female PD patients and their partners. MATERIALS AND METHODS:Medical, demographic and clinical data was collected regarding consecutive PD patie...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.07.003
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Some patients with progressive supranuclear palsy syndrome (PSPS) demonstrate a focal area of midbrain hypometabolism on FDG-PET scans which we call the 'pimple sign'. We assessed its association with midbrain atrophy, its reliability and its ability to differentiate PSPS from corticobasal syndrome (CBS) and...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.10.023
更新日期:2014-02-01 00:00:00
abstract:BACKGROUND:Although essential tremor (ET) is commonly encountered in clinical practice, historically, there has been considerable disagreement as how to best define it, and now with a growing sense of its clinical complexity, how to best encapsulate it. Here, I draw attention to five issues of current uncertainty. MET...
journal_title:Parkinsonism & related disorders
pub_type: 历史文章,杂志文章,评审
doi:10.1016/j.parkreldis.2017.07.004
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:The Montreal Cognitive Assessment (MoCA) is increasingly being used as a cognitive screening test in Parkinson disease (PD). The MoCA's popularity likely reflects its ability to detect executive dysfunction, a relative deficiency of the Mini-Mental State Examination (MMSE). OBJECTIVE:To compare neurochemica...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.07.008
更新日期:2014-10-01 00:00:00
abstract::Today, the basal ganglia (BG) network can be viewed as a three-layer neural network in which the striatum and the subthalamic nucleus (STN) are the two BG input structures and together innervate BG downstream structures using GABA and glutamate, respectively. The striatum is larger than the STN and is the main site of...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2018.12.015
更新日期:2019-02-01 00:00:00
abstract:INTRODUCTION:Two phase3 studies (SP512; SP513) involving mostly Caucasian patients showed that rotigotine (≤8 mg/24 h) was efficacious and welltolerated in early-stage Parkinson's disease (PD). We report results from a phase 3 study (SP0914/NCT01646268) investigating rotigotine in Chinese patients with early-stage PD. ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.parkreldis.2016.04.022
更新日期:2016-07-01 00:00:00
abstract:INTRODUCTION:We aimed to assess, in patients with Parkinson's disease (PD), the association between obstructive sleep apnea (OSA), progression of motor dysfunction and the effect of OSA treatment. METHODS:Data were analysed from a prospective cohort study of idiopathic PD patients from a movement disorders clinic. Pat...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.12.001
更新日期:2020-01-01 00:00:00
abstract::Involuntary movements are not a known feature of vitamin B12 (vB12) deficiency in adults, though they are a characteristic feature of vB12 deficiency in infants. This case report presents an adult patient with vB12 deficiency in whom, myoclonus-like muscular contractions appeared soon after the initiation of vB12 and ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(03)00065-8
更新日期:2003-10-01 00:00:00
abstract::Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations. Movement disorders have rarely been reported in CTX, while a detailed appreciation of the full phenotypic spectrum is required in order to prevent underdiagnosis of ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2018.07.006
更新日期:2019-01-01 00:00:00
abstract::The pedunculopontine nucleus (PPN) is a brainstem locomotive center that also processes sensory and behavioral information. Through its connections with basal ganglia structures and the spinal cord, the PPN may play a role in axial motor symptoms in Parkinson's disease (PD). We review the anatomical features of the PP...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(08)70016-6
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Physical inactivity in Parkinson disease (PD) has an impact on motor and non-motor symptoms of the disease. It is unclear whether this decline in physical activity occurs early in the disease, in addition to any decline due to aging, and whether commercial activity monitors can be used to self-monitor phys...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.08.001
更新日期:2019-09-01 00:00:00
abstract::Abnormally aggregated tau protein is central to the pathophysiology of Alzheimer's disease, frontotemporal dementia variants, progressive supranuclear palsy, corticobasal degeneration and chronic traumatic encephalopathy. The post-mortem cortical density of hyperphosphorylated tau tangles correlates with pre-morbid co...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2015.08.011
更新日期:2016-01-01 00:00:00
abstract:OBJECTIVES:To investigate the frequency and the different types of psychiatric disturbances in PSP patients using validated psychiatric instruments. METHODS:We conducted a case-control study using the Structured Clinical Interview (SCID-I) for DSM-IV to investigate psychiatric disorders in 28 PSP patients and 28 age a...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2014.05.015
更新日期:2014-09-01 00:00:00
abstract::The purpose of the study was to assess the validity and reliability of the Parkinson's disease questionnaire (PDQ-39, UK English version) as well as its briefer version (the PDQ-8) among Asian patients with Parkinson's disease (PD) in Singapore. Eighty-eight patients recruited from movement disorder clinics or patient...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2004.05.007
更新日期:2004-12-01 00:00:00
abstract::Evidence shows that neuronal injury accompanies neuroinflammatory reactions in the brain, and well as in Parkinson's disease (PD) animal models, in which the loss of dopamine neurons is associated with the activation of microglia in the substantia nigra. Activated microglia can be illustrated in vivo using Positron em...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(09)70814-4
更新日期:2009-12-01 00:00:00