Abstract：
:An abnormal accumulation and distribution of brain iron are common to different neurodegenerative disorders, including Parkinson's disease (PD), and alteration of genes involved in iron metabolism cause neurodegeneration with brain iron accumulation. HFE participates in the regulation of iron metabolism, its mutations are primary cause of hereditary hemochromatosis and appear to be more frequent in neurodegenerative disorders such as Alzheimer's disease and amyotrophic lateral sclerosis. However, conflicting results were obtained in previous studies aimed to verify if nucleotide variations in HFE gene act as risk modifiers for PD. We used denaturing HPLC for scanning DNA sequence variations in exon 2 and 4 of HFE gene in a cohort of 475 Italian PD patients. We identified the most common H63D, C282Y and S65C, and also other 4 rare mutation types (R66H, R224W, E277K, and T281M). The allele frequency of H63D and C282Y was not statistically different from that of 2 control groups with similar mean age or of a large cohort of the same geographical area. In addition we could not find statistical differences in the clinical phenotypes of patients carrying at least one mutated HFE allele from those with the normal allele. We conclude that in the Italian population, the most common HFE mutations, H63D and C282Y are not associated with the individual risk to develop PD, nor have specific influence on the clinical features of the disease.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Biasiotto G,Goldwurm S,Finazzi D,Tunesi S,Zecchinelli A,Sironi F,Pezzoli G,Arosio Pdoi
10.1016/j.parkreldis.2007.10.011subject
Has Abstractpub_date
2008-01-01 00:00:00pages
426-30issue
5eissn
1353-8020issn
1873-5126pii
S1353-8020(07)00244-1journal_volume
14pub_type
杂志文章abstract：:White matter lesions (WML) and epilepsy have been occasionally seen in Wilson's disease. No cases of generalized myoclonus have been reported so far. We present a patient with psychiatric symptoms starting at age 16, followed by tremor, generalized dystonia and severe generalized myoclonus. In addition to classical fi...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2006.03.012
更新日期：2007-04-01 00:00:00
abstract：BACKGROUND:Gait dysfunction is a common symptom of Parkinson's disease that can cause significant disability and put patients at risk for falls. These symptoms show variable responsiveness to dopaminergic therapy. OBJECTIVE:To determine whether dopaminergic (rs1076560 DRD2 G > T and rs4680 catechole-o-methyltransphera...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.12.010
更新日期：2018-03-01 00:00:00
abstract：OBJECTIVE:To demonstrate that degeneration of substantia nigra neurons may occur at later stages of disease in some patients with corticobasal syndrome (CBS) who evidenced preserved nigrostriatal pathway at a baseline FP-CIT SPECT study. BACKGROUND:Current pathological criteria for the definite diagnosis of corticobas...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.01.013
更新日期：2013-05-01 00:00:00
abstract：:Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned "DYT" numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70049-9
更新日期：2012-01-01 00:00:00
abstract：PURPOSE:The young-onset subtype of Parkinson's disease (YOPD) differs from the late-onset subtype (LOPD) in drug responsiveness, incidence of motor complications, and prognosis. The pathophysiology underlying these differences remains largely unknown. This study investigated whether the two subtypes differ in the patte...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.10.017
更新日期：2015-12-01 00:00:00
abstract：BACKGROUND:Visual hallucinations are an important non-motor complication of Parkinson's disease (PD) and carry a negative prognosis. Their biological basis is uncertain, but may relate to the activity of resting state networks in brain. We therefore aimed to investigate functional activity of brain in patients with vis...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.11.020
更新日期：2015-02-01 00:00:00
abstract：OBJECTIVE:The primary objective was to evaluate the efficacy and safety of droxidopa as add-on therapy in improving stiffness, tremors and other motor functions and activities of daily living for moderate-to-severe Parkinson's disease (PD). METHODS:PD patients, above Hoehn-Yahr III (including Hoehn-Yahr III), were ran...
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.2015.08.023
更新日期：2015-10-01 00:00:00
abstract：INTRODUCTION:Patients with Parkinson's disease (PD) frequently lose weight, even in the early stages of the disease. Our objective was to clarify the association between low body mass index (BMI) and life prognosis in PD. METHODS:We conducted a retrospective cohort study of 651 PD patients (380 females), with a primar...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.011
更新日期：2018-10-01 00:00:00
abstract：OBJECTIVE:To evaluate the subject-investigator agreement on the Unified Parkinson's Disease Rating Scale (UPDRS) subsections I and II. METHODS:Subject-investigator agreement was estimated at baseline and endpoint by Kappa statistics for individual items and concordance correlations for subscale totals using data from ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.10.006
更新日期：2012-03-01 00:00:00
abstract：:The effectiveness of oral levodopa in complex Parkinson's disease (PD) is limited by its short half-life, and the resulting pulsatile dopaminergic stimulation leads to complex motor fluctuations and dyskinesia. Several treatments provide more continuous/less pulsatile dopaminergic stimulation by modifying the pharmaco...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2009.09.005
更新日期：2009-12-01 00:00:00
abstract：BACKGROUND:Deep brain stimulation surgery (DBS) for movement disorders has become commonplace and patients are beginning to present to specialized centers for second opinions. We aimed to uncover reasons for referral by analyzing a large single center cohort of DBS patients referred for management. METHODS:Data were c...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.05.003
更新日期：2011-05-01 00:00:00
abstract：INTRODUCTION:Neurotrophic factors (NTFs) have been evaluated for neuroprotective effects in Parkinson's disease (PD). However, clinical trials examining the efficacy of intracerebral administration of NTFs on motor symptoms in PD have produced mixed results, and are thus inconclusive. The objective of this systematic r...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.parkreldis.2017.02.011
更新日期：2017-05-01 00:00:00
abstract：INTRODUCTION:In Parkinson's disease (PD), neuropsychiatric symptoms (NPS) can be particularly burdensome for caregivers. The main goal of this study was to assess the impact of NPS, assessed by means of a new specific scale, on caregiver burden. METHODS:A sample of 584 pairs of PD patients and their primary caregivers...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.03.024
更新日期：2015-06-01 00:00:00
abstract：:We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation. Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiol...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00034-2
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND:In late stage Parkinson patients there is an unmet need for new treatments to adequately control motor complications, especially dyskinesias. In several preliminary studies, it has been suggested that applying unilateral low-frequency repetitive transcranial magnetic stimulation (LF rTMS), delivered at the p...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.11.009
更新日期：2016-01-01 00:00:00
abstract：:The opsoclonus-myoclonus syndrome is a pathological condition characterized mainly by involuntary myoclonic movements involving ocular, trunk and limb muscles associated with ataxia and other neurological signs.We describe the case of a 30-year-old woman who developed this syndrome 15days after anti-Rubella vaccinatio...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00020-1
更新日期：2000-10-01 00:00:00
abstract：BACKGROUND:Hallucinations are a frequent and severe complication in Parkinson's disease (PD). Minor hallucinations are generally not disturbing, but likely progress to well-structured hallucinations with loss of insight and a great impact on quality of life. Knowledge on the neural bases of minor hallucinations may hel...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.11.017
更新日期：2014-03-01 00:00:00
abstract：:Serotonin (5-HT) is a monoamine neurotransmitter released throughout the brain. The serotonergic system is implicated in a host of neuropsychiatric disorders including, but not limited to, Parkinson's disease and L-DOPA-induced dyskinesia. These are pathological and drug-induced states that center on dysfunction of th...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70040-2
更新日期：2012-01-01 00:00:00
abstract：:We studied daytime sleepiness in 160 patients with Parkinson's disease and 40 normal subjects. We compared the prevalence of daytime sleepiness in patients who were taking levodopa alone, levodopa with bromocriptine, levodopa with ropinirole, and levodopa with pramipexole. We found that (1) all these anti-Parkinson dr...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(00)00076-6
更新日期：2001-10-01 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：:Understanding of the pathophysiology of Parkinson disease (PD) has advanced rapidly over the last two decades through basic and clinical studies using modern neuroanatomical, clinical assessment, neuropathological and functional brain imaging methods. Two interacting processes determine the development of functional i...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/s1353-8020(03)00063-4
更新日期：2003-08-01 00:00:00
abstract：INTRODUCTION:for a proportion of patients with functional motor symptoms (FMS), specific physiotherapy has recently emerged as a promising treatment. Aim of the present study was to assess in a sample of patients with FMS the efficacy of a physical therapy-based telemedicine programme on the motor symptoms themselves a...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.05.004
更新日期：2020-07-01 00:00:00
abstract：INTRODUCTION:The patho-physiological basis for finger dexterity deficits in Parkinson's disease (PD) is controversial. Previously, bradykinesia was regarded as the major mechanism. However, recent research suggested limb-kinetic apraxia as an important component of impaired fine motor skills in PD. In contrast to brady...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.12.025
更新日期：2015-03-01 00:00:00
abstract：INTRODUCTION:There is currently no definitive diagnostic test for Parkinson's disease (PD) and the current diagnostic procedure primarily relies on clinical manifestations. A hypointense appearance of nigrosome-1 (or absence of the "swallow tail" sign) on magnetic resonance imaging (MRI) has been proposed as a biomarke...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2020.07.002
更新日期：2020-09-01 00:00:00
abstract：:The recently discovered trace amine associated receptors (TAARs) represent attractive potential mediators of certain aspects of movement control. The TAAR that is best characterized, TAAR1, is particularly interesting because it can be activated by a variety of monoaminergic compounds including trace amines, amphetami...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2008.04.006
更新日期：2008-01-01 00:00:00
abstract：BACKGROUND:Significant efforts have been focused on investigating the contribution of common variants to Parkinson disease (PD) risk. Several independent GWAS and metanalysis studies have shown a genome-wide significant association of single nucleotide polymorphisms (SNPs) in the α-synuclein (SNCA) and microtubule-asso...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.10.014
更新日期：2012-03-01 00:00:00
abstract：:The authors review some particularities of movement disorders (MDs) in the ethnically diverse population of Latin America. Although idiopathic diseases are evenly prevalent, access to treatment encounters difficulties that are worth discussing. Infectious-parasitic diseases observed throughout the continent occasional...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2005.08.009
更新日期：2006-04-01 00:00:00
abstract：BACKGROUND:Lower levels of physical activity are associated with lower Health-Related Quality of Life (HRQoL) in Parkinson's disease (PD). We evaluated the influence of quantitative physical activity parameters among other (disease-related) features representing other domains of the WHO International model for classifi...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.12.023
更新日期：2018-03-01 00:00:00
abstract：BACKGROUND:Transcranial B-mode sonography (TCS) has become an important tool in the differential diagnosis of parkinsonism given that current technology enables an adequate assessment of brain structures. In this study we aimed at evaluating the usefulness of midbrain area measured by TCS in the differential diagnosis ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2013.04.010
更新日期：2013-08-01 00:00:00
abstract：BACKGROUND/OBJECTIVE:Essential tremor (ET) can diminish functioning and quality of life (QOL) but generic QOL measures may be relatively insensitive to ET and its therapies. We sought to develop an ET-specific measure that might be more sensitive, acceptable to patients, relatively brief, and easily used. DESIGN/METHO...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章
doi：10.1016/j.parkreldis.2005.05.009
更新日期：2005-09-01 00:00:00
