Abstract:
BACKGROUND:In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL) in a Dutch DRD cohort. METHODS:Clinical characteristics, motor symptoms, type and severity of psychiatric co-morbidity, sleep problems, fatigue and HR-QoL were assessed in DRD patients with a confirmed GCH1 mutation and matched controls. RESULTS:Twenty-eight patients were included (18 adults and 10 children), from 10 families. Dystonia symptoms were well-controlled in all patients. According to the DSM IV patients significantly more often met the criteria for a lifetime psychiatric disorder than controls (61% vs. 29%, p < 0.05). In particular the frequencies of generalized anxiety and agoraphobia were higher in patients (both 29% vs. 4%, p < 0.05). Patients scored significantly higher on daytime sleepiness than controls (ESS, 11.2 vs 5.7, p < 0.05). Adult patients had significantly lower scores on the mental component of the HR-QoL (47 vs. 54, p < 0.05) than controls mainly associated with (worse) quality of sleep. CONCLUSION:NMS were highly prevalent in our cohort of DRD patients, despite adequate treatment of motor symptoms. Our findings support the accumulating evidence of an important non-motor phenotype in DRD, with possible involvement of serotonergic mechanisms. This highlights the need to address NMS and the underlying neurobiology in patients with DRD.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Timmers ER,Kuiper A,Smit M,Bartels AL,Kamphuis DJ,Wolf NI,Poll-The BT,Wassenberg T,Peeters EAJ,de Koning TJ,Tijssen MAJdoi
10.1016/j.parkreldis.2017.10.005subject
Has Abstractpub_date
2017-12-01 00:00:00pages
57-62eissn
1353-8020issn
1873-5126pii
S1353-8020(17)30362-0journal_volume
45pub_type
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.10.023
更新日期:2014-02-01 00:00:00
abstract::Parkinson's disease is a chronic neurological disorder that results in gait and posture impairment. There is increasing evidence that these motor impairments may be partially due to deficits within the sensory system. In this study, the effects of a facilitatory insole that provides increased plantar sensory stimulati...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2009.04.004
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abstract::Excessive daytime sleepiness (EDS) is common in Parkinson's Disease (PD). Actigraphy uses periods of immobility as surrogate markers of nighttime sleep but there are no examples of its use in assessing EDS of PD. A commercial wrist worn system for measuring bradykinesia and dyskinesia also detects 2 min periods of imm...
journal_title:Parkinsonism & related disorders
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doi:10.1016/j.parkreldis.2014.02.011
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journal_title:Parkinsonism & related disorders
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abstract:BACKGROUND:Deep brain stimulation (DBS) is an effective and approved therapy for advanced Parkinson's disease (PD), and a recent study suggests efficacy in mid-stage disease. This manuscript reports the results of a pilot trial investigating preliminary safety and tolerability of DBS in early PD. METHODS:Thirty subjec...
journal_title:Parkinsonism & related disorders
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abstract::Behr syndrome is an autosomal recessive disease characterized by early-onset ataxia, optic atrophy and other signs such as pyramidal tract dysfunction. Autosomal dominant inheritance has also been described. In this case report we present a family pedigree of patients with an inherited autosomal dominant Behr syndrome...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2007.08.008
更新日期:2008-01-01 00:00:00
abstract::Hyperechogenicity of the substantia nigra (SN) detected by transcranial sonography is a typical finding in more than 90% of patients with Parkinson's disease (PD) but may also be visible in about 9% of healthy adults. In this study, we found a correlation between SN hyperechogenicity and subtle motor dysfunction in ot...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2006.07.006
更新日期:2007-08-01 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
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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
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2013.07.017
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
doi:10.1016/j.parkreldis.2018.05.016
更新日期:2018-10-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/s1353-8020(02)00024-x
更新日期:2002-09-01 00:00:00
abstract:INTRODUCTION:Tremor is frequently associated with dystonia, but its pathophysiology is still unclear. Dysfunctions of cerebellar circuits are known to play a role in the pathophysiology of action-induced tremors, and cerebellar impairment has frequently been associated to dystonia. However, a link between dystonic trem...
journal_title:Parkinsonism & related disorders
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journal_title:Parkinsonism & related disorders
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
doi:10.1016/j.parkreldis.2008.02.003
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journal_title:Parkinsonism & related disorders
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journal_title:Parkinsonism & related disorders
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
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更新日期:2002-10-01 00:00:00
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journal_title:Parkinsonism & related disorders
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更新日期:2007-02-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
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更新日期:2019-04-01 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
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journal_title:Parkinsonism & related disorders
pub_type: 临床试验,杂志文章
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更新日期:2004-08-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(98)00014-5
更新日期:1998-08-01 00:00:00
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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:INTRODUCTION:Blood uric acid represents an important biomarker in sporadic Parkinson's disease (PD). Whether uric acid levels change in genetic forms of PD is beginning to be assessed. The aim of the present study was to evaluate differences in serum uric acid level among PD patients harboring mutations in the glucocer...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2020.12.020
更新日期:2021-01-20 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.12.012
更新日期:2011-03-01 00:00:00