Clinical feature and DYT1 mutation screening in primary dystonia patients from South‐West China

Zhang, S.-S.; Fang, Deng-Fu; Hu, Xiaolin; Burgunder, Jean‐Marc; Chen, X.-P.; Zhang, Y.-W.; Shang, Huifang

doi:10.1111/j.1468-1331.2009.02944.x

Cited by 22 publications

(15 citation statements)

References 39 publications

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“…Patients from Southwest China with different types of dystonia were examined by movement disorder specialists at the outpatient clinic of the Department of Neurology of the West China Hospital in Chengdu between June 1, 2004 and June 1, 2010. To exclude secondary dystonia, supplemental tests such as brain MRIs and EEGs, among others, were performed according to history and physical examinations, as described in our previous report [23]. Patients with dystonia-plus syndrome, including dopa-responsive dystonia, myoclonic dystonia, and paroxysmal dystonia, were excluded in the current study.…”

Section: Patientsmentioning

confidence: 99%

Novel THAP1 gene mutations in patients with primary dystonia from Southwest China

Song

Chen

Huang

et al. 2011

Journal of the Neurological Sciences

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Section: Patientsmentioning

confidence: 99%

Novel THAP1 gene mutations in patients with primary dystonia from Southwest China

Song

Chen

Huang

et al. 2011

Journal of the Neurological Sciences

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“…To the best of our knowledge there has been no previous report about its clinical features, mutation screening, or genotype-phenotype correlation amongst people of Iran or neighboring countries prior to this report. We reported 63 Iranian non-Jewish patients with primary dystonia with a high frequency of DYT1 mutation, comparing with other populations [12,13,14,15,16,17,18,19,20,21,22,23,24,25]. …”

Section: Discussionmentioning

confidence: 99%

Clinical Features, <b><i>DYT1</i></b> Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

et al. 2012

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Objective: To test Iranian patients with primary torsion dystonia to determine the frequency of 904–906 del GAG mutation in the DYT1 (TOR1A) gene and to investigate the genotype-phenotype association for this disease. Subjects and Methods: Sixty-three patients with primary dystonia were investigated. DNA was extracted from peripheral blood and these samples were subjected to PCR-sequencing for exon 5 of the DYT1 gene. Results: Of the 63 patients, 10 (15.9%) carried the triplet GAG deletion mutation; this is a high DYT1-positive rate in comparison with other populations and the type of dystonia in this positive group was generalized in all except 1. In our patients, limbs were the most severely involved site at the time of onset and in most cases it developed to generalized form. The majority of DYT1-positive cases showed higher leg onset (5 patients, 62.5%) in comparison with higher arm onset in negative patients (20 patients, 50%). Also, the progression to generalized dystonia in DYT1-positive patients was significantly higher than in DYT1-negative patients. The mean age at onset was 8.6 ± 1.6 years (7–12 years) in DYT1-positive patients, while mean age at onset in patients with no GAG deletion mutation was higher (15.7 ± 11.5 years). Conclusions: The DYT1 904–906 del GAG mutation is responsible for some of Iranian dystonia patients, and screening for the DYT1 deletion is significant in cases with the generalized type of primary dystonia. Also, patients with leg or arm onset at a younger age are more likely to be DYT1-positive among primary torsion dystonia cases.

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“…В основном использовался опросник SF-36 (short form-36) и Cervical Dystonia Impact Profile-58 [52][53][54][55][56]. Показано значимое влияние боли, депрессии и тревоги на качество жизни [49,50,57,58]. Отмечено, что у паци-ентов с цервикальной дистонией этот показатель хуже, чем у пациентов с блефароспазмом и «писчим спазмом» [49,56,59].…”

Section: качество жизниunclassified

Focal Dystonias: Non-Motor Symptoms and Comorbidities

Толмачёва¹

2017

Med. sov.

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Дистония является распространенным экстрапирамидным заболеванием. Для нее характерны как моторные, так и немоторные проявления, к которым относятся боль, сенсорные нарушения, избыточная двигательная активность. Обсуждается вклад тревож-ных и депрессивных расстройств, нарушений сна в течение фокальной дистонии. Нередко именно немоторные проявления являются начальными симптомами дистонии. В ряде случаев немоторные проявления можно выделить в самостоятельные заболевания, которые сопутствуют дистоническому гиперкинезу и способствуют ухудшению качества жизни таких больных. Лечение немоторных симптомов позволит повысить эффективность терапии дистонии, а также повлиять на течение заболевания.Ключевые слова: дистония, немоторные симптомы, коморбидность, лечение. V.A. TOLMACHYOVA, PhD in medicine, Sechenov First Moscow State Medical University FOCAL DYSTONIAS: NON-MOTOR SYMPTOMS AND COMORBIDITIESDystonia is a common extrapyramidal disease. It is characterized by both motor and non-motor manifestations, which include pain, sensory disorders and excessive physical activity. The contribution of disturbing and depressed disorders, sleep disorders during the focal dystonia has been discussed. It is often the non-motor manifestations that are the initial symptoms of dystonia. In some cases, unmotorized manifestations can be isolated diseases that accompany dystonic hyperkinesis and contribute to the deterioration of the quality of life of such patients. Treatment of nonmotor symptoms will improve the effectiveness of dystonia therapy as well as affect the course of the disease.

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Clinical feature and DYT1 mutation screening in primary dystonia patients from South‐West China

Abstract: Our data on a cohort of Chinese patients show some difference from descriptions in other ethnic groups. This includes an earlier age of onset, a lower incidence of depression and female serving as a predictor factor of a HRQL. Similar to other cohorts, DYT1 gene mutations are rare.

Cited by 22 publications

References 39 publications

Novel THAP1 gene mutations in patients with primary dystonia from Southwest China

Novel THAP1 gene mutations in patients with primary dystonia from Southwest China

Clinical Features, <b><i>DYT1</i></b> Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

Focal Dystonias: Non-Motor Symptoms and Comorbidities

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