Abstract:
:The ataxias are a group of progressive neurodegenerative disorders with ataxia as the leading symptom. Current classifications distinguish between hereditary and non-hereditary ataxias. The hereditary ataxias are further divided into the autosomal recessive ataxias, the most frequent of which is Friedreich's ataxia, and the autosomal dominant spinocerebellar ataxias. The non-hereditary ataxias are separated into the acquired ataxias, such as alcoholic cerebellar degeneration or paraneoplastic cerebellar degeneration, and the sporadic degenerative ataxias, such as multiple system atrophy or sporadic adult onset ataxia. The causative mutations of many hereditary ataxias have recently been identified. Therapies based on the knowledge of the underlying molecular pathogenesis are available for a number of ataxia disorders.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Klockgether Tdoi
10.1016/S1353-8020(08)70036-1subject
Has Abstractpub_date
2007-01-01 00:00:00pages
S391-4eissn
1353-8020issn
1873-5126pii
S1353-8020(08)70036-1journal_volume
13 Suppl 3pub_type
杂志文章,评审abstract:INTRODUCTION:Orthostatic myoclonus (OM) is a recognized syndrome of gait unsteadiness accompanied by lower limb myoclonus provoked by the assumption of an upright posture. OM typically affects the elderly and is often associated with neurodegenerative disease. We sought to review the clinical and electrophysiologic cha...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.04.015
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Many patients with Parkinson's disease (PD) suffer from sialorrhea. Sialorrhea is often treated with anticholinergics and botulinum toxin, but some adverse effects have limited the use of these treatments. Dihydroergotoxine mesylate is an α-adrenergic blocking agents as well as some affinities to the dopamin...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.parkreldis.2018.08.022
更新日期:2019-01-01 00:00:00
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:Parkinson disease (PD) and multiple system atrophy (MSA) share some neuropathologic features (nigrostriatal dopaminergic lesion, alpha-synuclein deposition) but not others (Lewy bodies in PD, glial cytoplasmic inclusions in MSA). In PD evidence has accrued for a vesicular storage defect and decreased aldehyd...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.03.006
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:Many patients with advanced Parkinson's disease (PD) are reluctant to undergo the subthalamic nucleus deep brain stimulation (STN-DBS) when surgery is warranted. Reasons for this reluctance have not been examined. We undertook to establish the rate and causes of this reluctance for STN-DBS in patients with a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.11.010
更新日期:2016-02-01 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:INTRODUCTION:Cognitive deficits and neuropsychiatric symptoms occur in parkinsonian and cerebellar subtypes of Multiple System Atrophy (MSA-P and MSA-C). These symptoms have been investigated mainly in cross-sectional studies. The present 1-year follow-up study aimed at evaluating the evolution of cognitive and neurops...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.12.010
更新日期:2020-01-01 00:00:00
abstract::We have performed proton magnetic resonance spectroscopy centred on the putamen contralateral to the worst affected side in 10 patients with idiopathic Parkinson's disease (PD) and motor response fluctuations and seven age matched healthy controls. In PD, there was striking reduction in the N-acetylaspartate (NAA) and...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/1353-8020(96)00007-7
更新日期:1996-04-01 00:00:00
abstract::Tardive dyskinesia (TD) is a common, iatrogenic movement disorder affecting many individuals treated with dopamine-receptor blocking agents (DRBAs). Studying treatment of TD can be complex, as the symptoms can be affected by changes in either dosage or type of DRBA, as well as by the variable natural course of the dis...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2018.12.022
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Sleep disorders occur commonly in Parkinson's disease and are often under-recognized and under treated in clinical practice. OBJECTIVES:To determine the quality of sleep in patients with Young onset Parkinson's disease (YOPD) and to note whether there is any difference in quality of sleep from those patient...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.02.007
更新日期:2015-05-01 00:00:00
abstract:PURPOSE:Fall-related fracture is one of the most disabling features of idiopathic Parkinson's disease (PD). A better understanding of the associated factors is needed to predict PD patients who will require treatment. METHODS:This prospective study enrolled 100 adult idiopathic PD patients. Stepwise logistic regressio...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.09.024
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Brain iron disequilibrium and dopaminergic dysfunction are key pathophysiological features of Restless Legs Syndrome (RLS). Rep1 polymorphism in the promotor region of SNCA is associated with risk of Parkinson's disease, however its association with RLS and iron status is unclear. OBJECTIVE:To investigate S...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.09.015
更新日期:2020-12-01 00:00:00
abstract:BACKGROUND:DBS is a well-established therapy for patients with PD and is an emerging therapy for other neuropsychiatric disorders. Despite the rise in DBS usage, relatively little is known about the tissue and cellular responses to DBS. PURPOSE:To examine post-mortem effects of DBS leads by objectively quantifying gli...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.04.009
更新日期:2018-09-01 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
abstract::Impulsive personalities are considered to have a general impairment in cognitive flexibility and cortical inhibition. To examine this hypothesis we used a trial by trial Stroop task in impulsive and non impulsive patients with Parkinson's disease (PD) and recorded errors and reaction times (RT). We tested 28 impulsive...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.12.014
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND:Essential tremor is the most common movement disorder in adults, but its exact etiology and pathophysiology are still not fully understood. There is some consensus, however, about the involvement of the cerebellum and accumulating evidence points towards a dysfunction of the gabaergic system. We hypothesize ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.04.024
更新日期:2012-08-01 00:00:00
abstract::Today's society is changing rapidly and individuals increasingly favor an active role in designing their own lives. Contemporary patients are no exception, but the present health care system-which is organized primarily from the provider's perspective-is not yet prepared for this development. Here, we argue that an al...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2013.04.022
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND:Impulse control disorders in Parkinson's disease are a potential consequence of dopaminergic therapy. Impulse control problems might be revealed by intertemporal choice tasks which entail to forgo an immediately available reward in favor of a larger but later reward. The steepness of the discounting curve ca...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.09.026
更新日期:2015-11-01 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: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:INTRODUCTION:Increasing evidence demonstrates the relevant association between Parkinson's disease (PD) and vascular diseases/risk factors, as well as a worse clinico-pathological progression in those patients with vascular comorbidity. The mechanisms underlying this relationship have not been clarified yet, although t...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.04.004
更新日期:2020-05-01 00:00:00
abstract::The interactive effects of neonatal iron and adult MPTP treatment groups of C57 Bl/6 mice were studied through adminustration of iron (Fe(2+)) 7.5mg/kg b.w., p.o. or vehicle (saline) on days 10-12 post partum, followed at 3months of age by administration of either MPTP (2x20 or 2x40mg/kg, s.c.) or saline. Neonatal iro...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(00)00028-6
更新日期:2001-04-01 00:00:00
abstract::Forty patients with Parkinson's disease (PD) were studied to explore the relationship between aspects of psychological functioning (depression, problems in motoric, cognitive and psychological areas) and physical illness (stage and duration of illness, functional disability, global cognitive status). Depression, motor...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(00)00010-9
更新日期:2000-07-01 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::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:INTRODUCTION:Camptocormia is defined as an involuntary, marked flexion of the thoracolumbar spine appearing during standing or walking and resolving in the supine position or when leaning against a wall. However, there is no established agreement on the minimum degree of forward flexion needed to diagnose camptocormia....
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.04.033
更新日期:2018-08-01 00:00:00
abstract:INTRODUCTION:We aimed to evaluate whether neuromelanin-sensitive MRI (NM-MRI) features in the substantia nigra pars compacta (SNc) were of diagnostic value to differentiate untreated essential tremor (ET) from de novo tremor-dominant Parkinson's disease (PDT). METHODS:Eighteen untreated ET patients, 21 de novo PDT pat...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.07.007
更新日期:2019-01-01 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::Recently, several genes for parkinsonism have been identified. Among them, familial Parkinson's disease (PD) could be assigned for PARK disorders. PARK disorders consist of three different inherited modes such as autosomal recessive, autosomal dominant modes and susceptible genes. Some of them manifest not only typica...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(11)70003-7
更新日期:2012-01-01 00:00:00
abstract::Levodopa (LD) is the most effective drug for symptomatic control of Parkinsonism (PS). As prolonged LD therapy leads to response failure; is associated with adverse effects; may accelerate disease process, and its impact on life expectancy is controversial, delaying LD use has been recommended. We studied 934 PS cases...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(97)00030-8
更新日期:1997-11-01 00:00:00