Abstract:
:Sex-linked dystonia parkinsonism (XDP) was reported by Lee et al. in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex-linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalization. The movement disorder is characterized by dystonic movements usually starting in the third or fourth decade, focal at the onset, spreading to generalization within 2-5 years. The dystonia co-exist or is replaced by parkinsonism usually beyond the 10th year of illness. As of June 2001, 376 XDP cases have been registered. One hundred and fifteen cases have died. The prevalence of XDP in the island of Panay is 5.24 per 100,000; 0.34/100,000 in the general population. The prevalence varies in the different provinces; it is highest in Capiz at 18.88/100,000, 7.46/100,000 in Aklan, 1.28 in Iloilo and 0.83 in Antique. The 376 cases are from 188 families and 92% of cases have positive family history. Ninety-nine percent of the cases are males. The mean age of onset is 39.48 years. Duration of illness is 12.95 years. Ninety-four percent of patients initially manifest with dystonic symptoms, while only 6% present with Parkinsonian traits. Among those presenting with dystonia, the initial presentation is in the lower extremities in 33%, craniofacial in 27%, cervical and shoulder in 25%, upper extremities in 14%, and trunk in 1%. Regardless of the site of onset, the dystonia spreads in 98% and generalizes within 5 years in 84%. Neuroimaging (magnetic resonance imaging, MRI) was done in 16 patients. In the patients who have just manifested the disease usually when dystonia predominates and parkinsonism is absent. MRI showed minimal atrophy of the caudate and putamen or subtle putaminal signal abnormality. In the late course, where Parkinsonism predominates, severe atrophy of the caudate and putamen as well as marked increase in signal abnormality are seen. There are six autopsied cases of XDP. Neuropathology revealed marked atrophy of the caudate and putamen mostly in the cases with longstanding illness. The sex-linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1. Nemeth's group has mapped the XDP gene to a <350 kb locus in the DXS 7117-DX 559 region. To date, no treatment has been proven consistently effective.
journal_name
Parkinsonism Relat Disordjournal_title
Parkinsonism & related disordersauthors
Lee LV,Maranon E,Demaisip C,Peralta O,Borres-Icasiano R,Arancillo J,Rivera C,Munoz E,Tan K,Reyes MTdoi
10.1016/s1353-8020(02)00042-1subject
Has Abstractpub_date
2002-10-01 00:00:00pages
29-38issue
1eissn
1353-8020issn
1873-5126pii
S1353802002000421journal_volume
9pub_type
杂志文章,评审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...
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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,多中心研究
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journal_title:Parkinsonism & related disorders
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,meta分析,评审
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更新日期:2012-03-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
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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
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
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更新日期:2016-01-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2017.06.012
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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:2012-01-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2010.09.009
更新日期:2011-01-01 00:00:00
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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
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.01.005
更新日期:2014-04-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.parkreldis.2015.02.025
更新日期:2015-05-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,评审
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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
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更新日期:1997-04-01 00:00:00
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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:2004-05-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
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更新日期:2019-12-01 00:00:00
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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
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,随机对照试验
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更新日期:2013-11-01 00:00:00
abstract::Involuntary movements are not a known feature of vitamin B12 (vB12) deficiency in adults, though they are a characteristic feature of vB12 deficiency in infants. This case report presents an adult patient with vB12 deficiency in whom, myoclonus-like muscular contractions appeared soon after the initiation of vB12 and ...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/s1353-8020(03)00065-8
更新日期:2003-10-01 00:00:00
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journal_title:Parkinsonism & related disorders
pub_type: 杂志文章
doi:10.1016/j.parkreldis.2014.09.004
更新日期:2014-12-01 00:00:00
abstract::Patients with advanced Parkinson's Disease (PD) may be eligible for Deep Brain Stimulation (DBS) in case of medication-related motor fluctuations or tremor refractory to oral medication. However, several PD symptoms are unresponsive to DBS and constitute relative contra-indications for DBS. Patients referred for DBS u...
journal_title:Parkinsonism & related disorders
pub_type: 杂志文章,多中心研究
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更新日期:2019-09-01 00:00:00
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pub_type: 杂志文章
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