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 this disease. This review focuses on the frequency of more unusual, non-ataxia and non-spasticity movement disorders reported in CTX. In total, 39 articles were reviewed, describing 55 CTX patients with a movement disorder. Additionally, we report on seven patients with parkinsonism out of our Dutch cohort of 79 (77 genetically proven) CTX patients. Mean age at onset of the movement disorder was 40 ± 12 years (median 40, range 13-62 years). Movement disorders can be considered a late disease manifestation. Parkinsonism was the most frequently reported movement disorder, followed by dystonia, myoclonus and postural tremor. Movement disorders were found to be mixed in 23% of patients and were usually part of a complex clinical picture, rather than a prominent symptom. Still, in 18% of the cases, a movement disorder was the presenting symptom. Unusual movement disorders represent a rare clinical feature in CTX, but CTX should be considered in the differential diagnosis of these movement disorders, particularly in case of early onset, and when associated with other neurological features (especially cognitive impairment, pyramidal and cerebellar signs) and/or with systemic features (such as diarrhoea, cataract and tendon xanthomas). CTX is a treatable disorder, stressing the importance of considering CTX as a potential cause of movement disorders.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Stelten BML,van de Warrenburg BPC,Wevers RA,Verrips Adoi
10.1016/j.parkreldis.2018.07.006subject
Has Abstractpub_date
2019-01-01 00:00:00pages
12-16eissn
1353-8020issn
1873-5126pii
S1353-8020(18)30310-9journal_volume
58pub_type
杂志文章,评审abstract:INTRODUCTION:Olfactory dysfunction and neuropsychological symptoms like depression and anhedonia are common non-motor symptoms in Parkinson's disease (PD). The assessment of both functional domains includes clinical examination, olfactory testing, and standardized questionnaires. While olfaction is readily assessed by ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2015.09.035
更新日期:2016-01-01 00:00:00
abstract::A confluence of variables in Parkinson's disease results in Parkinson's informal caregivers facing tremendous challenges. Factors include: motor and non-motor symptoms, staging, rate of progression and increased life expectancy of people with Parkinson's (PwP) due to effective drug therapy and surgery. Informal caregi...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/S1353-8020(09)70796-5
更新日期:2009-12-01 00:00:00
abstract:INTRODUCTION:Although the hallmark feature of essential tremor (ET) is tremor, there is growing appreciation that cognitive impairment also occurs, including increased prevalence of mild cognitive impairment (MCI) and increased prevalence and incidence of dementia. With emerging knowledge of ET-cognitive impairment, co...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2019.02.038
更新日期:2019-06-01 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: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:PURPOSE:To assess optimism/pessimism and locus of control in a sample of Parkinson's disease patients and to evaluate their impact on disability and health-related quality of life. METHODS:99 patients with Parkinson's disease completed the Life Orientation Test, Multidimensional Health Locus of Control, Older American...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.03.005
更新日期:2009-11-01 00:00:00
abstract::Dystonia is an incurable movement disorder which can cause not only physical but also mental problems, leading to impaired health-related quality of life (HRQoL). For patients with dystonia refractory to medical treatment, deep brain stimulation (DBS) is a well-established surgical treatment. The objective of this sys...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.11.016
更新日期:2020-01-01 00:00:00
abstract:OBJECTIVE:The object of the present study was to evaluate whether patients with neurolathyrism (NL) have cognitive abnormalities, and whether the cognitive decline, if found, correlates with the motor deficit. BACKGROUND:NL is a neurological syndrome that develops following ingestion of the grass pea (Lathyrus Sativus...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(99)00016-4
更新日期:1999-04-01 00:00:00
abstract::Oxidative stress has been reported as one of the pathogeneses of Parkinson's disease (PD). Nuclear factor erythroid 2-related factor 2 (Nrf2) is a transcription factor that regulates the expression of the target genes involved in antioxidant pathway. The promoter polymorphisms of the Nrf2-encoding gene, NFE2L2, have b...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.10.018
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVES:Type 2 diabetes (T2DM) may increase the risk of Parkinson's disease (PD). We evaluated the role of oral anti-hyperglycemic agents (OAA) in any diabetes-PD linkage. METHODS:From the Taiwan National Health Insurance database on 01-01-2000, a representative cohort of 800,000 was obtained between 1996-01-01 and...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2012.03.010
更新日期:2012-07-01 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:INTRODUCTION:Psychosis is one of the common non-motor symptoms of PD, which substantially worsens the quality of life. Hence, it is important to identify factors that are associated with early onset of psychosis in PD. In order to identify those factors, the current study aims to compare various demographic and clinica...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.09.015
更新日期:2017-11-01 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::Although primary focal hand dystonia has been well characterized, primary focal foot dystonia in adults has rarely been reported. Our objective was to describe the clinical phenotype and treatment outcomes in patients with primary, adult-onset focal foot dystonia. To this end we conducted a retrospective study of four...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2005.07.004
更新日期:2006-01-01 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:INTRODUCTION:Our objective was to compare the relative value of elements of the motor system in predicting the physical mobility domain of health related quality of life in patients with Parkinson's disease in order to specify targets for intervention. METHODS:In this cross-sectional study, the Parkinson's disease que...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2011.07.004
更新日期:2011-11-01 00:00:00
abstract::Moclobemide, a potent reversible monoamine-oxidase A (MAO-A) inhibitor, is an effective antidepressant that does not cause impairment of cognitive function in elderly patients and might be beneficial to motor deficits in Parkinson's disease (PD). In a 12-week open-label prospective study, we administered moclobemide (...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(97)00028-x
更新日期:1997-12-01 00:00:00
abstract:BACKGROUND:X-linked dystonia-parkinsonism (XDP) is characterized by the unique transition of dystonia to parkinsonism and striatal degeneration. Slowing of saccades on clinical examination has been taken as suggestive of a progressive supranuclear palsy (PSP) phenotype. OBJECTIVES:To elucidate whether eye movement abn...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2018.10.016
更新日期:2019-04-01 00:00:00
abstract::Corticobasal degeneration (CBD) presents with symptoms that often overlap with other neurological conditions. In many cases, diagnosis, prognosis and consequent clinical management remain uncertain. Structural and functional asymmetric brain changes represent the most consistent imaging findings that may assist in CBD...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.09.011
更新日期:2008-01-01 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: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::Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. An association with sleep breathing disorder has not previously been established in the literature. We report the case of a 45-year-old woman with HD, presenting with snoring and observed apnea. Polysomnography showed obstructive sleep apne...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2005.01.005
更新日期:2005-06-01 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:OBJECTIVE:To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay. METHODS:We retrospectively analyzed our patients with mutations in the parkin RBR E3 ubiquitin protein ligase gene (PRKN). We collected a total of 34 patients and focused on 1...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2019.01.010
更新日期:2019-06-01 00:00:00
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, a...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(08)70036-1
更新日期:2007-01-01 00:00:00
abstract::Several factors involved in the etiology of Parkinson's disease (PD) have been proposed, including genetic and environmental factors or even a combination of both. Thus, multiple cellular hits are likely to contribute to neurodegeneration in PD. If such a mechanism happens to occur, our therapeutic intervention may pe...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/S1353-8020(08)70026-9
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Quantitative analysis of brain atrophy may be useful in differentiating Parkinson's Disease (PD) from Progressive Supranuclear Palsy (PSP) and parkinsonian variant of Multiple System Atrophy (MSA-P); the aim of this study was to identify the volumetric differences of subcortical structures in pat...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.12.010
更新日期:2011-03-01 00:00:00
abstract::The authors report one case of parkinsonism associated with systemic lupus erythematosus (SLE): a 45-year-old woman, who presented with a strategic infarct of the right substance nigra secondary to vasculitis, and contralateral symptoms. Other causes of parkinsonism were excluded. She had a partial response to therapy...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.08.001
更新日期:2008-01-01 00:00:00
abstract::Parkinson disease (PD) reduces health-related quality of life (HRQoL), but exercise may improve HRQoL. This pilot study compared the effects of Tango, Waltz/Foxtrot, Tai Chi and No Intervention on HRQoL in individuals with PD. Seventy-five persons with PD (Hoehn and Yahr I-III) were assigned to 20 lessons of Tango, Wa...
journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
doi:10.1016/j.parkreldis.2009.03.003
更新日期:2009-11-01 00:00:00
abstract::The objective of the current cross-sectional study was to use standardized psychiatric interviews (the Structured Clinical Interview for DSM-IV Axis I Disorders and the Neuropsychiatric Inventory; NPI) in order to better characterize psychiatric symptoms in 50 consecutive, treated and clinically stable patients with W...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.01.010
更新日期:2009-12-01 00:00:00