更新于：2024-11-01

Choreoathetosis

舞蹈手足徐动症

更新于：2024-11-01

基本信息

别名

CHOREOATHETOSIS、Choreathetosis、Choreo-athetosis

+ [11]

简介

Abnormal movement characterized by involuntary jerking and writhing affecting the limbs, trunk, and facial muscles.

关联

项与舞蹈手足徐动症相关的药物

Pramipexole Dihydrochloride

盐酸普拉克索

靶点

D2 receptor x D3 receptor

作用机制

D2 receptor激动剂 [+1]

在研机构

Teva Pharmaceuticals Europe BV [+6]

原研机构

C.H. Boehringer Sohn AG & Co. KG

在研适应症

不宁腿综合征 [+1]

非在研适应症

舞蹈手足徐动症 [+4]

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期1997-07-01

项与舞蹈手足徐动症相关的临床试验

NCT06412653 / Recruiting临床2期IIT

Prospective Pilot Trial to Address the Feasibility and Safety of Treatment With Oral Zinc in GNAO1 Associated Disorders

The goal of this clinical trial is to investigate feasibility and safety of an oral therapy with zinc in patients affected by Guanine nucleotide-binding protein G(o) subunit alpha (GNAO1) associated disorders.
The main questions it aims to answer are:
* Is a daily oral therapy with zinc in GNAO1 associated disorders a safe and feasible therapy?
* Are there potential changes in general motor skills, general behaviour and well being, day/night rhythm, level of dyskinesia and dystonia, frequency of seizures, quality of life and changes in the microbiome of the patients.
Participants with GNAO1 associated disorders will be given an oral zinc therapy for 6 month and will be assessed in 3 visits and 2 phone calls within this trial.

开始日期2024-08-02

申办/合作机构-

ISRCTN11559397 / RecruitingN/AIIT

Targeting the adenosinergic system in restless legs syndrome: a proof-of-concept” placebo-controlled transcranial magnetic stimulation-based protocol

开始日期2024-03-01

申办/合作机构-

IRCT2017070134806N1 / Recruiting临床2/3期IIT

Compare the effect of magnesium and vitamin B6 with pramipexole in improving the symptoms of restless leg syndrome patients referred to the clinic by University of Medical Sciences.

开始日期2017-07-01

申办/合作机构

Arak University of Medical Sciences

100 项与舞蹈手足徐动症相关的临床结果

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100 项与舞蹈手足徐动症相关的转化医学

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0 项与舞蹈手足徐动症相关的专利（医药）

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项与舞蹈手足徐动症相关的文献（医药）

2024-12-31·Journal of Medical Economics

Cost-effectiveness of TOMAC therapy for medication-refractory restless legs syndrome: an updated analysis based on Extension study data

Article

作者: Ryschon, Anne M. ; Pietzsch, Jan B. ; Roy, Asim

AIMSPatients with medication-refractory restless legs syndrome (RLS) have limited therapeutic options available for symptom relief. Tonic motor activation (TOMAC) presents a novel, non-invasive therapy for this patient population. The aim of this study was to conduct an updated cost-effectiveness analysis of TOMAC therapy based on recently available longer-term follow-up data.MATERIALS AND METHODSA previously published decision-analytic Markov model was utilized to project strategy-specific costs and outcomes over three-years and lifetime for TOMAC compared to status quo treatment (control). Cohort characteristics were based on 24-week clinical data from the extension cohort of the RESTFUL study, which included longer-term follow-up of RESTFUL completers who were assigned to continue or discontinue TOMAC use (TOMAC and control, respectively). The primary analysis outcome was the incremental cost-effectiveness ratio (ICER) in $ per quality-adjusted life year (QALY) gained, calculated using change in International RLS Study Group Rating Scale (IRLS) score as the effect measure. Extensive sensitivity analyses were performed.RESULTSTOMAC treatment improved IRLS by 5.9 versus control, resulting in estimated utility improvement of +0.05. Over three-years and lifetime, TOMAC added 0.14 and 0.73 QALYs, at incremental costs of $6,751 and $27,440, resulting in projected ICERs of $47,609 and $37,823 per QALY gained, respectively. TOMAC was found to be cost-effective across all tested sensitivity analyses.LIMITATIONS AND CONCLUSIONThe inclusion of longer follow-up data in the current analysis confirms earlier exploratory cost-effectiveness findings and suggest TOMAC therapy may provide a high-value treatment option for patients with medication-refractory RLS.

2024-09-01·Heliyon

Positive 14-3-3 protein in cerebrospinal fluid followed by poppy-induced delayed post-hypoxic leukoencephalopathy: A case report

Article

作者: Dong, Hanrong ; Zhao, Jingmin ; Chi, Lumei ; Lee, Kwee-Yum ; Wu, Si ; Shen, Guangxun

BackgroundDelayed post-hypoxic leukoencephalopathy (DPHL) is characterized by a biphasic clinical course, with complete recovery from coma to a fully conscious state lasting one to four weeks (lucid interval), followed by abrupt neurological deterioration as an indirect consequence of hypoxic events like carbon monoxide poisoning and narcotic drug overdose. To our best knowledge, there are no documented cases in literature of choreoathetosis and dementia following poppy-induced DPHL with 14-3-3 protein in cerebrospinal fluid (CSF).Case presentationWe report the case of a 70-year-old female who underwent cardiopulmonary resuscitation (CPR) due to overdose of homemade refined opium poppy paste two weeks prior to presentation. She presented a progressive cognitive decline, along with the development of apraxia and choreic movement affecting her tongue and bilateral upper and lower extremities. During the symptomatic phase, brain magnetic resonance imaging (MRI) showed bilateral symmetrical hyperintense signals mostly in central frontal, temporal, and parieto-occipital lobes in the diffusion weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR) sequences which are the characteristic findings of DPHL. CSF routine analysis, as well as toxicology screening, autoimmune and paraneoplastic encephalitis panels were negative, but the presence of 14-3-3 protein in the CSF was detected. With steroid therapy, hyperbaric oxygen therapy and symptomatic treatment, she experienced gradual improvement in cognition, motivation, and psychomotor function.ConclusionDPHL represents a distinct form of encephalopathy characterized by unique clinical course and imaging features. It is the first report of DPHL with positive 14-3-3 protein in CSF. The potential of 14-3-3 protein as a biomarker for diagnosing DPHL and its ability to predict disease severity and prognosis warrants further research.

2024-09-01·Journal of Neural Transmission

Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders

Review

作者: Milanowski, Łukasz ; Nowicki, Maciej ; Sławek, Jarosław ; Koziorowski, Dariusz ; Dulski, Jarosław ; Skwara, Julia ; Sharif, Lucia ; Hoffman-Zacharska, Dorota ; Skrzypek, Katarzyna ; Elert-Dobkowska, Ewelina

AbstractBenign hereditary chorea (BHC) is an inherited neurological disorder consisting of childhood-onset, nonprogressive chorea, generally without any other manifestations. In most reported cases, the inheritance of BHC is autosomal dominant but both incomplete penetrance and variable expressivity are observed and can be caused by NKX2-1 mutations. The spectrum contains choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome. The neurological symptoms can be misdiagnosed as Huntington’s disease (HD). The two Polish families were diagnosed with NKX2-1 gene mutations and a literature review concerning the NKX2-1-related disorders was conducted. All family members were examined by experienced movement disorders specialists. PubMed database was searched to obtain previously described NKX2-1 cases. Whole exome sequencing (WES) was performed in one proband (Family A) and direct NKX2-1 sequencing in the second (Family B). Two Polish families were diagnosed with NKX2-1 gene mutations (p.Trp208Leu and p.Cys117Alafs*8). In one family, the co-occurrence of HD was reported. Forty-nine publications were included in the literature review and symptoms of 195 patients with confirmed NKX2-1 mutation were analyzed. The most common symptoms were chorea and choreiform movements, and delayed motor milestones. The NKX2-1 mutation should always be considered as a potential diagnosis in families with chorea, even with a family history of HD. Lack of chorea does not exclude the NKX2-1-related disorders.