Progressive supranuclear palsy-like syndrome after aortic aneurysm repair: a case series [0.03%]
主动脉瘤手术后的进行性核上性麻痹样综合征：一组病例报告
Sirisha Nandipati,Janet C Rucker,Steven J Frucht
Sirisha Nandipati
The syndrome of progressive supranuclear palsy-like syndrome is a rare complication of ascending aortic aneurysm repair. We report two patients with videos and present a table of prior reported cases. To our knowledge there is no previously...
A novel presentation of an ocular geste antagoniste in cervical dystonia: a case report [0.03%]
眼睑击打性眨眼痉挛的临床表现1例报告
James T Boyd,Timothy J Fries,Keith J Nagle et al.
James T Boyd et al.
Background: A geste antagoniste or sensory trick is a well described phenomenon associated with primary cervical dystonia. Craniocervical tactile stimulation or stereotyped limb movements allow patients to transiently ame...
A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family [0.03%]
哥伦比亚一家系中具有表型多样性的新型DYT-5突变
Oscar Bernal-Pacheco,Genko Oyama,Angela Briton et al.
Oscar Bernal-Pacheco et al.
Background: DYT-5 dystonia usually presents as a dopa-responsive dystonia (DRD) with early or late parkinsonian manifestations and/or dystonic features. Genetically, these patients have been described as having a wide arr...
Glenn Irvine,Ginger Irvine
Glenn Irvine
When people are diagnosed with rare, incurable disorders, they and their families suffer both from the disease itself and from the lack of information and resources available. They become acutely aware that research can only be conducted wh...
Keisuke Suzuki,Masayuki Miyamoto,Tomoyuki Miyamoto et al.
Keisuke Suzuki et al.
Background: In restless legs syndrome (RLS), the isolated involvement of other body parts in the absence of leg involvement is rare. Case report: ...
Lessons Learned from Open-label Deep Brain Stimulation for Tourette Syndrome: Eight Cases over 7 Years [0.03%]
开放标签深部脑刺激治疗抽动秽语综合征的七年八例经验教训总结
Maria G Motlagh,Megan E Smith,Angeli Landeros-Weisenberger et al.
Maria G Motlagh et al.
Background: Deep brain stimulation (DBS) remains an experimental but promising treatment for patients with severe refractory Gilles de la Tourette syndrome (TS). Controversial issues include the selection of patients (age...
Giovanni Defazio,Joseph Jankovic,Jennifer L Giel et al.
Giovanni Defazio et al.
Background: Cervical dystonia (CD), the most common form of adult-onset focal dystonia, has a heterogeneous clinical presentation with variable clinical features, leading to difficulties and delays in diagnosis. Owing to ...
Quantitative methods for evaluating the efficacy of thalamic deep brain stimulation in patients with essential tremor [0.03%]
评估丘脑深部刺激治疗原发性震颤有效性的定量方法研究
Gunilla Wastensson,Björn Holmberg,Bo Johnels et al.
Gunilla Wastensson et al.
Background: Deep brain stimulation (DBS) of the thalamus is a safe and efficient method for treatment of disabling tremor in patient with essential tremor (ET). However, successful tremor suppression after surgery require...
Safety and Efficacy of Tetrabenazine and Use of Concomitant Medications During Long-Term, Open-Label Treatment of Chorea Associated with Huntington's and Other Diseases [0.03%]
亨廷顿舞蹈病等疾病长期开放性使用四苯喹唑啉治疗的药物安全性和有效性以及联用药物的应用情况：一项观察性研究
Vivienne Shen,Kathleen Clarence-Smith,Christine Hunter et al.
Vivienne Shen et al.
Background: Although tetrabenazine, a drug that depletes presynaptic dopamine by inhibiting vesicular monoamine transporter 2 (VMAT2), was approved by the U.S. Food and Drug Administration in 2008 for the treatment of cho...
Four Essential Tremor Cases with Moderately Impaired Gait: How Impaired can Gait be in this Disease? [0.03%]
四例步行轻中度异常的特发性震颤患者：该病会导致步态障碍吗？
Elan D Louis,Monica Galecki,Ashwini K Rao
Elan D Louis
Background: A body of literature is emerging regarding gait/balance impairments observed in essential tremor (ET) patients. Although impairment is generally mild, the full extent of the spectrum remains undefined. We pres...