Abstract：
INTRODUCTION:Huntington's disease (HD) is the most common hereditary neurodegenerative disorder. Despite the fact that both the gene and the mutation causing this monogenetic disorder were identified more than 20 years ago, disease-modifying therapies for HD have not yet been established. REVIEW:While intense preclinical research and large cohort studies in HD have laid foundations for tangible improvements in understanding HD and caring for HD patients, identifying targets for therapeutic interventions and developing novel therapeutic modalities (new chemical entities and advanced therapies using DNA and RNA molecules as therapeutic agents) continues to be an ongoing process. The authors review recent achievements in HD research and focus on approaches towards disease-modifying therapies, ranging from huntingtin-lowering strategies to improving huntingtin clearance that may be promoted by posttranslational HTT modifications. CONCLUSION:The nature and number of upcoming clinical studies/trials in HD is a reason for hope for HD patients and their families.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Zielonka D,Mielcarek M,Landwehrmeyer GBdoi
10.1016/j.parkreldis.2014.12.013subject
Has Abstractpub_date
2015-03-01 00:00:00pages
169-78issue
3eissn
1353-8020issn
1873-5126pii
S1353-8020(14)00487-8journal_volume
21pub_type
杂志文章,评审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：:Since the early 1970s, the literature has suggested an association between Parkinson's Disease (PD) and/or levodopa-use and an increased risk for the development of malignant melanoma. In some countries, this possible association has even led to a warning in the drug insert leaflet of the possible risk. Recently, five...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2009.05.002
更新日期：2009-09-01 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：: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...
journal_title：Parkinsonism & related disorders
pub_type： 历史文章,杂志文章,评审
doi：10.1016/j.parkreldis.2008.03.001
更新日期：2009-01-01 00:00:00
abstract：AIM:To clarify the characteristics of hemodynamic responses to exercise and orthostasis in Parkinson's disease patients, especially those with autonomic failure. METHODS:Clinical audit of supine cycling exercise test data (with active standing tests pre- and post-exercise) of Parkinson's patients with autonomic dysfun...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2014.02.006
更新日期：2014-05-01 00:00:00
abstract：:This preliminary study aimed to analyse the roll-off of the foot during gait before and after implantation of a unilateral pallidal electrode in severely affected patients with Parkinson's disease (PD). Five subjects were tested in a gait laboratory during the "on" phase of the medication cycle. Spatiotemporal variabl...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(98)00038-8
更新日期：1998-12-01 00:00:00
abstract：INTRODUCTION:The aim of this study was to examine the association between mild parkinsonian signs (MPS), cerebral small-vessel disease (SVD), and total SVD burden in patients with vascular risk factors. METHODS:We performed a cross-sectional study among 268 patients with vascular risk factors but without parkinsonism ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.02.011
更新日期：2016-05-01 00:00:00
abstract：:Although attentional impairments (particularly cognitive slowing) are frequent in Parkinson's disease (PD), the mechanisms underlying these phenomena have not been fully characterized. The MRI-compatible version of the Symbol Digit Modalities Test (SDMT) has been applied to healthy individuals but not previously to pa...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.05.006
更新日期：2020-07-01 00:00:00
abstract：:The 'hung-up' knee jerk (HUKJ) is a specific, although rarely appreciated, clinical sign of Huntington's Disease. A HUKJ was present in 11 of 31 consecutive patients with Huntington's Disease seen in our practice. The clinical characteristics of these patients are described and an EMG recording of the HUKJ is presente...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00095-0
更新日期：2003-06-01 00:00:00
abstract：:Over the last decade, several autosomal dominant and recessive genes causative of Parkinson's disease (PD) have been identified. The functional studies on their protein products and the pathogenetic effect related to their mutations have greatly contributed to understand the many cellular pathways leading to neurodege...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(11)70023-2
更新日期：2012-01-01 00:00:00
abstract：:Restless legs syndrome (RLS) is a common condition characterized by an urge to move the legs, accompanied by uncomfortable or unpleasant sensations. Symptoms predominantly occur at rest in the evening or at night, and they are alleviated by moving the affected extremity or by walking. Recent European epidemiological s...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(09)70838-7
更新日期：2009-12-01 00:00:00
abstract：:Essential tremor (ET) is among the common movement disorders. A surge in research in recent years has considerably improved our understanding of disease etiology and pathogenesis, and its associated clinical phenomenology and natural history. With this progress have emerged a multitude of new questions and conundrums ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.10.035
更新日期：2020-12-01 00:00:00
abstract：:Deficiency in skilled motor activity is primarily attributed to the loss of dopaminergic neurons in the pars compacta of substantia nigra (SNc), which can be detected by performance of the rotarod test. Previous reports have demonstrated impaired skilled motor behavior in rats during the pre-motor stage of Parkinson's...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2010.12.017
更新日期：2011-07-01 00:00:00
abstract：INTRODUCTION:There is a dearth of studies of spinocerebellar ataxias (SCAs) and diffusion tensor magnetic resonance imaging (DTI). OBJECTIVE:To analyze changes observed in DTI parameters and correlate these to clinical findings in SCA3 and SCA10 patients. METHODS:SCA3 (n = 19) and SCA10 (n = 18) patients were compare...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.06.460
更新日期：2020-09-01 00:00:00
abstract：:A prevalence survey of movement disorders, epilepsy, hypertension and smoking was undertaken in Vejer de la Frontera, Southern Spain in 1988. A validated screening instrument designed for door-to-door tracing of specific disorders was used. Neurological diagnoses were based on: (1) direct anamnesis and examination by ...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(96)00021-1
更新日期：1996-10-01 00:00:00
abstract：BACKGROUND:There are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil. METHODS:Neurological and clinical...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.10.027
更新日期：2019-04-01 00:00:00
abstract：PURPOSE:A systematic meta-analysis of published studies on the diagnostic accuracy of presynaptic dopaminergic imaging with ¹²³I-FP-CIT (DaTSCAN) in dementia with Lewy bodies (DLB). METHODS:We included (a) studies in which DaTSCAN was performed in cases of diagnostic uncertainty to differentiate between DLB and non-DL...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.parkreldis.2011.09.015
更新日期：2012-03-01 00:00:00
abstract：:Diagnostic biomarkers are measures that detect or confirm the presence of a disease or identify individuals with a subtype of the disease. For Parkinson's disease, unlike other neurodegenerative diseases such as Alzheimer's disease and Creutzfeldt-Jakob disease, diagnostic biomarkers remain elusive as none are yet ava...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/j.parkreldis.2018.11.016
更新日期：2019-02-01 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：: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:No effective treatment for tardive dystonia (TD) has been well established. Deep brain stimulation (DBS) can ameliorate motor manifestations in primary dystonia, and may also be an effective approach for TD. OBJECTIVES:This study aimed to illuminate the long-term efficacy and safety of subthalamic nucleus (...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.05.010
更新日期：2017-08-01 00:00:00
abstract：INTRODUCTION:Cognitive impairment and dementia are highly prevalent non-motor complications in Parkinson's disease (PD) with deleterious consequences for patients and caregivers. With no treatment currently available, finding and validating minimally-invasive biomarkers of neurodegeneration in this population represent...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2020.04.009
更新日期：2020-05-01 00:00:00
abstract：:Parkinson's disease (PD) is a common neurodegenerative disorder that produces progressive disability despite symptomatic treatment. Several strategies, including stereotaxic brain lesions, deep brain stimulation, transplants of dopamine cells and administration of neurotrophic factors, have been proposed to improve ef...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/s1353-8020(02)00005-6
更新日期：2002-06-01 00:00:00
abstract：BACKGROUND:Non-motor symptoms in Parkinson's disease (PD), such as cognitive, emotional, autonomic and somatosensory alterations, are not ubiquitous but vary between the tremor dominant (TD) and postural instability/gait difficulty (PIGD) subtypes of the syndrome. Non-motor phenomena (e.g., anxiety, depression and apat...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2018.05.001
更新日期：2018-08-01 00:00:00
abstract：:Most patients with tremor-dominant Parkinson's disease (PD) have impaired smell function but it is unclear whether this is true for subjects with essential tremor (ET). If ET patients do not exhibit meaningful smell loss, then olfactory testing may help to distinguish PD from ET. We assessed olfactory function in 59 E...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2007.12.006
更新日期：2008-11-01 00:00:00
abstract：OBJECTIVE:To investigate the indications and the outcomes of gastrostomy tube insertion in patients with parkinsonian syndromes. METHODS:Consecutive patients with Parkinson's disease or atypical parkinsonism, seen in two French tertiary referral movement disorders centers, that received gastrostomy tube insertion (GTI...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2017.06.012
更新日期：2017-10-01 00:00:00
abstract：:Several changes to society in the last four decades have had implications for people and their families living with Parkinson's disease (PD): (1) The change in the role of voluntary organisations highlighting the importance of listening to the needs of the patients and their families. (2) Demographic changes resulting...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章,评审
doi：10.1016/S1353-8020(08)70056-7
更新日期：2007-01-01 00:00:00
abstract：BACKGROUND:Punctual delivery of dopaminergic medication to Parkinson's disease (PD) patients may be important in optimizing disease control. We tested the hypothesis that prompt delivery of l-dopa medications to emergency hospital inpatients was associated with a decreased length of stay in hospital. METHODS:The study...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2016.11.004
更新日期：2017-02-01 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:Visual hallucinations (VH) in Parkinson's disease (PD) are associated with PD dementia and have been related to cognitive impairments in non-demented PD patients. Reports on the specific cognitive domains affected are conflicting. The aim of the present study was to investigate the presence of specific cogni...
journal_title：Parkinsonism & related disorders
pub_type： 杂志文章
doi：10.1016/j.parkreldis.2013.04.026
更新日期：2013-09-01 00:00:00
