Abstract：
:The H1 haplotype was first identified 10 years ago. Initially, a dinucleotide polymorphism was detected in the tau (MAPT) gene and was subsequently found to be in linkage disequilibrium (LD) with other polymorphisms, forming the MAPT H1 haplotype, a risk factor for many neurological diseases, considered as tauopathies. Genetic and histopathologic data are in agreement that MAPT and its encoded protein have a pivotal role in the normal function of neurons. Currently, the H1 haplotype extends beyond the outer edges of MAPT encompassing multiple genes on chromosome 17 and thus increasing the number of candidate genes implicated in the pathogenesis of tauopathies. This review highlights the milestones and basic events in the journey towards uncovering the significance of the H1 haplotype.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Kalinderi K,Fidani L,Bostantjopoulou Sdoi
10.1016/j.parkreldis.2008.03.001subject
Has Abstractpub_date
2009-01-01 00:00:00pages
2-5issue
1eissn
1353-8020issn
1873-5126pii
S1353-8020(08)00094-1journal_volume
15pub_type
历史文章,杂志文章,评审abstract：:The purpose of this preliminary study was to investigate the inter-rater reliability among physician, patient, and caregiver ratings on the Hoehn & Yahr (H & Y) and Schwab & England (S & E) rating instruments. We also examined differences in ratings between patients who attended clinic with and without caregivers (spo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(01)00009-8
更新日期：2002-01-01 00:00:00
abstract：:The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2005.01.003
更新日期：2005-06-01 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：OBJECTIVE:Melanopsin may be involved in the pathophysiology of photophobia in idiopathic isolated blepharospasm. We assessed the efficacy of blocking wavelengths of melanopsin absorption to reduce blinking in blepharospasm as a possible surrogate for photophobia. METHODS:Twenty-one participants (11 blepharospasm and 1...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2019.09.010
更新日期：2019-10-01 00:00:00
abstract：BACKGROUND:A mean of 10 years elapse before patients with Parkinson's disease (PD) reach Hoehn & Yahr (H&Y) stage 4, and 14 years for stage 5. A small proportion of PD patients survive and are ambulatory for ≥ 20 years. We sought to identify features associated with long-duration PD (dPD). METHODS:This five-center, ca...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2012.07.008
更新日期：2013-01-01 00:00:00
abstract：:Current concepts regarding the pathogenesis of Parkinson's disease support a model whereby environmental factors conspire with a permissive genetic background to initiate the disease. The identity of the responsible environmental trigger has remained elusive. There is incontrovertible evidence that aggregation of the ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2014.02.031
更新日期：2014-07-01 00:00:00
abstract：:Clinical symptoms in Parkinson's disease (PD) comprise both motor and non-motor symptoms. In this disease, synucleinopathic-induced, nigral dopamine deficiency-related dysfunction of the basal ganglia is held responsible for the characteristic levodopa-responsive motor signs and symptoms (bradykinesia, hypokinesia, ri...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(09)70770-9
更新日期：2009-12-01 00:00:00
abstract：:Genetic studies over the past 15 years have revolutionized our understanding towards the etiology of Parkinson's disease (PD). These studies have discovered many disease-linked genetic loci (PARK 1 to 18), which are now being interrogated for cellular pathways contributing to PD. Various pathogenic pathways were propo...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(13)70037-3
更新日期：2014-01-01 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: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：INTRODUCTION:Glucocerebrosidase (GBA) gene variants are associated with the development of the Lewy body disorders (LBD) Parkinson disease (PD) and dementia with Lewy bodies (DLB). Idiopathic REM sleep behavior disorder (IRBD) represents prodromal LBD in most instances. We investigated whether GBA variants are overrepr...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.02.034
更新日期：2018-05-01 00:00:00
abstract：:To establish a clinical diagnosis of a parkinsonian disorder, physicians rely on their ability to identify relevant red flags, in addition to cardinal features, to support or refute their working diagnosis in an individual patient. The term 'red flag', was originally coined in 1989 to define the presence of non-cardin...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.10.009
更新日期：2019-02-01 00:00:00
abstract：:Approximately 10% of patients with a presumed diagnosis of Parkinson's disease (PD) remain misdiagnosed despite recent advances in neuroimaging. The current study addresses the use of transcranial sonography and single-photon emission computed tomography (SPECT) using (99m)Tc-TRODAT-1 to evaluate the echogenicity of t...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.01.015
更新日期：2014-05-01 00:00:00
abstract：BACKGROUND:Drug-induced Parkinsonism is common, causes significant morbidity, and can be clinically indistinguishable from idiopathic Parkinson's disease. Additionally, drug-induced Parkinsonism may, in some cases, represent "unmasking" of incipient Parkinson's disease. Clinical features or tests that distinguish degen...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.03.024
更新日期：2014-07-01 00:00:00
abstract：:Positron emission tomography (PET) scan is considered to be the most useful tool with which to assess the integrity of nigrostriatal function in the living brain. Recently, different genetic defects have been associated with a variety of familial parkinsonian syndromes, the clinical phenotypes of which have varying de...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/s1353-8020(01)00008-6
更新日期：2001-09-01 00:00:00
abstract：:This case series describes the inpatient rehabilitation of two medically complex patients with Parkinson's disease (PD) who had undergone deep brain stimulator (DBS) placement. Most patients may not require inpatient rehabilitation. However, a short rehabilitation stay might be of use to patients who need to be weaned...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.07.002
更新日期：2008-01-01 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：: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：: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：:Autosomal recessive juvenile parkinsonism (ARJP/PARK2) is a distinct clinical and genetic entity characterized by early-onset levodopa-responsive parkinsonism, foot dystonia, sleep benefit, and hyperactive tendon reflexes. We report a patient with genetically confirmed ARJP, who showed mild sensory disturbance and dim...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00114-1
更新日期：2003-06-01 00:00:00
abstract：INTRODUCTION:Continuous infusion of levodopa/carbidopa intestinal gel (LCIG) is an effective treatment for patients with advanced Parkinson Disease (PD) that cannot be further improved by oral therapy. METHODS:We conducted an observational, prospective, and multicenter study to collect, in a large sample of PD treated...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,多中心研究
doi：10.1016/j.parkreldis.2015.05.014
更新日期：2015-08-01 00:00:00
abstract：INTRODUCTION:somatosensory temporal discrimination threshold (STDT) measures the ability to perceive two stimuli as being sequential. Altered STDT has been reported in Parkinson's disease (PD). The cerebellum seems to play a role in the pathophysiology of PD, and may consequently be involved in the pathophysiology of S...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2015.04.004
更新日期：2015-07-01 00:00:00
abstract：BACKGROUND:Deep brain stimulation improves motor function and quality of life in patients with Parkinson's disease. The impact of these changes on patients' spouses is largely unknown. METHODS:Twenty-six spouses of patients undergoing surgery were evaluated before and 12 months after surgery, using the 36-Item Short F...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.11.008
更新日期：2012-06-01 00:00:00
abstract：OBJECTIVES:To determine cortical grey matter (GM) changes and their clinical and biochemical correlates in patients with Wilson's disease using voxel based morphometry (VBM). METHODS:Clinical and imaging data of 10 patients (all male, mean age 16.0 ± 6.3years) with Wilson's Disease were analyzed. T1W volumetric MRI da...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.06.017
更新日期：2016-09-01 00:00:00
abstract：:The stiff-man syndrome (SMS) is characterised by rigidity and spasm of predominantly axial and proximal limb muscles. The cause of the condition is unknown but the finding of antibodies to glutamic acid decarboxylase (GAD) in approximately 60% of patients has suggested an autoimmune basis. Pathological findings are li...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/s1353-8020(01)00029-3
更新日期：2001-10-01 00:00:00
abstract：:In this study we aimed to investigate the effects of bilateral STN HFS in patients with advanced Parkinson disease (PD) at long-term, with a minimum follow-up of 4 years. Twenty patients (15 men, five women) were included, with a mean age of 60.9+/-8.1 years. Surgery was performed under local anesthesia. The target wa...
journal_title：Parkinsonism & related disorders
pub_type： 临床试验,杂志文章
doi：10.1016/j.parkreldis.2004.10.011
更新日期：2005-05-01 00:00:00
abstract：BACKGROUND:Isolated action tremor (IAT) is the hallmark clinical feature of essential tremor (ET), but it may also be a prominent feature of some individuals with Parkinson's disease (PD) suggesting a pathogenic relationship between these two disorders. OBJECTIVES:We investigated the integrity of the striatal presynap...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.08.025
更新日期：2012-01-01 00:00:00
abstract：:Levodopa induces long-term motor complications in Parkinson's disease (PD). Therapeutic strategies that prevent motor complications are needed. Our aim was to evaluate the impact of recommendations of a French consensus conference published in 2000 on initial PD therapy. We identified 308 PD patients as part of a popu...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2011.04.020
更新日期：2011-08-01 00:00:00
abstract：BACKGROUND:Japan and the United States (US) have different cultures of caregiving including differences in family structure and social programs that may influence caregiver strain. Differences in caregiver strain between regions in Japan and in the US have not been investigated in patient-spouse dyads in PD. OBJECTIVE...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.02.014
更新日期：2013-06-01 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
