Dystonia

Bhidayasiri, Roongroj

doi:10.1097/01.nrl.0000195831.46000.2d

Cited by 39 publications

(5 citation statements)

References 116 publications

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“…Maraganore's research found that ubiquitin carboxy-terminal hydrolase L1 (UCHL1) was a susceptibility gene for PD and a potential target for disease-modifying therapies [ 12 ]. However, these genes expression profiles could not be analyzed in brain during life and were mainly obtained in PD subjects accompanied with classic motor symptoms [ 13 ]. Similarly, clinic diagnosis is hard to made before these signs and symptoms appear.…”

Section: Introductionmentioning

confidence: 99%

Pilot study: molecular risk factors for diagnosing sporadic Parkinson's disease based on gene expression in blood in MPTP-induced rhesus monkeys

et al. 2017

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Clinical diagnosis of Parkinson's disease (PD) is characterized by the classical features of tremor, bradykinesia and rigidity, which are present only when more than 70%-80% degeneration of dopaminergic (DA) neurons in the substantia nigra. The lack of means for early diagnosis of PD has elicited interest in searching for its risk factors, which, by now, are almost obtained at a single time point in PD process, and little developing risk factors, obtained from completely normal situation to the onset or even advanced stage of PD in individual person which could monitor the progress of PD, are present. Here we have detected some potential factors in the blood of MPTP induced PD monkeys along with the progress of the disease. All the PD monkeys showed mild PD symptoms since the 9th week and gradually reached a classic and stable parkinsonism stage at the 18th week. Our results have found that the expression of Parkin, USP30, MUL1, PINK1, and LRRK2 significantly increased at 1st, 3th, 3th, 5th, and 8th week respectively and remained high till the end; The expression of UCHL1 and TRIM24 significantly increased at the 1st and 18th week, respectively, then gradually decreased and significantly lower than normal value; DJ-1 showed significantly decreased since the 12th week, while SNCA showed no significantly changed excepted at the 5th week. And, the terminal results of whole blood were highly consistent with those of in SN. These results support that these genes change may as biomarkers to monitor the progress of PD, and may facilitate the development of biomarkers for early diagnosis.

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Section: Introductionmentioning

confidence: 99%

Pilot study: molecular risk factors for diagnosing sporadic Parkinson's disease based on gene expression in blood in MPTP-induced rhesus monkeys

et al. 2017

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“…Sustained muscle contractions trigger repetitive abnormal movements or abnormal postures [1,2]. Dystonia may occur idiopathically or as a secondary symptom due to a certain type of disease or condition [3].…”

Section: Introductionmentioning

confidence: 99%

“…Dystonia may occur idiopathically or as a secondary symptom due to a certain type of disease or condition [3]. It can be treated with dopaminergic drugs, anti-cholinergic drugs, or botulinum toxin muscle relaxants [1,4]. Neuroablative surgery, such as thalamotomy or pallidotomy and deep brain stimulation (DBS), can be performed if generalized dystonia does not respond to conservative treatment [5,6].…”

Section: Introductionmentioning

confidence: 99%

Two-Year Outcomes of Deep Brain Stimulation in Adults With Cerebral Palsy

Kim

Chang

et al. 2014

Ann Rehabil Med

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ObjectiveTo investigate the effect of deep brain stimulation (DBS) on reducing dystonia and disability in adults with cerebral palsy (CP) and to compare the therapeutic outcomes between primary dystonia patients and CP patients over two years after bilateral pallidal DBS.MethodsFive patients with primary dystonia and seven CP patients with dystonia were recruited. All subjects received DBS surgery in both globus pallidus. Burke-Fahn-Marsden dystonia rating scale consisting of dystonia movement score and disability score and subjective satisfaction scale were assessed after 1 month and every 6 months over two years following DBS treatment.ResultsOn the dystonia movement scale, both groups of primary dystonia patients and CP patients showed a significant decrease over time following DBS. On the disability scale, patients with primary dystonia showed a significant decrease over time, whereas the disability score of CP patients did not change over the two years. Comparing the dystonia movement and disability scores of CP patients at each assessment, patients with primary dystonia showed a significant reduction after 6 months. Comparing the satisfaction scores of CP patients after DBS, patients with primary dystonia showed significantly higher subjective satisfaction.ConclusionWhereas dystonia can be significantly reduced in patients with primary dystonia, CP patients showed a modest improvement on the dystonia movement scale, but not on the disability scale. Therefore, DBS may be considered with caution as a treatment modality of CP patients with dystonia.

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“…It was believed that dystonia is an inherited disorder and is age-onset dependent, considered as primary dystonia, since no neurological lesions have been found in association with the disorder (Bhidayasiri, 2006[ 5 ]). Some cases of dystonia may accompany other neurological disorders such as brain injury or Parkinson's disease; they are categorized as secondary dystonia (Breakefield et al, 2008[ 6 ]).…”

Section: Introductionmentioning

confidence: 99%