Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus [0.03%]
儿童初始和难治性肌张力障碍持续状态的管理建议
Lindsey M Vogt,Kathryn Yang,Gabriel Tse et al.
Lindsey M Vogt et al.
Status dystonicus is the most severe form of dystonia with life-threatening complications if not treated promptly. We present consensus recommendations for the initial management of acutely worsening dystonia (including pre-status dystonicu...
Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-Parkinsonism [0.03%]
X连锁肌张力不全-帕金森病中镶嵌发散重复序列中断的稳定性
Joshua Laß,Theresa Lüth,Kathleen Schlüter et al.
Joshua Laß et al.
Background: X-Linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by rapidly progressive dystonia and parkinsonism. Mosaic Divergent Repeat Interruptions affecting motif Length an...
Magnetic Resonance-Guided Focused Ultrasound (MRgFUS)-Thalamotomy for Essential Tremor: Lesion Location and Clinical Outcomes [0.03%]
磁共振引导聚焦超声丘脑毁损治疗原发性震颤的毁损位置和临床疗效关系研究
Alana Arcadi,Iciar Aviles-Olmos,Lain Hermes Gonzalez-Quarante et al.
Alana Arcadi et al.
Background: Factors predicting clinical outcomes after MR-guided focused ultrasound (MRgFUS)-thalamotomy in patients with essential tremor (ET) are not well known. ...
GPNMB Biomarker Levels in GBA1 Carriers with Lewy Body Disorders [0.03%]
GBA1变异携带者中路易体障碍的GPNMB生物标志物水平
Eliza M Brody,Yunji Seo,EunRan Suh et al.
Eliza M Brody et al.
Background: The GPNMB single-nucleotide polymorphism rs199347 and GBA1 variants both associate with Lewy body disorder (LBD) risk. GPNMB encodes glycoprotein nonmetastatic melanoma protein B (GPNMB), a biomarker for GBA1-...
Charles H Adler,Matthew Halverson,Nan Zhang et al.
Charles H Adler et al.
Background: While preclinical studies have shown that alpha-synuclein can spread through cell-to-cell transmission whether it can be transmitted between humans is unknown. ...
Clinical Utility of Tectal Plate Measurements on Magnetic Resonance Imaging in Progressive Supranuclear Palsy [0.03%]
磁共振成像测量中脑顶板在进行皮质下丘脑变性病特别是皮克病和多系统萎缩诊断的临床效用评估研究
Abigail Amrami,Neha Atulkumar Singh,Farwa Ali et al.
Abigail Amrami et al.
Background: Midbrain atrophy is a characteristic feature of progressive supranuclear palsy (PSP), observed in PSP-Richardson's syndrome (PSP-RS) and to a lesser extent PSP-parkinsonism (PSP-P). ...
A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease [0.03%]
帕金森病印度家系的新PINK1 p.F385S功能缺失突变
Karan Sharma,Asha Kishore,Anna Lechado-Terradas et al.
Karan Sharma et al.
Background: Most Parkinson's disease (PD) loci have shown low prevalence in the Indian population, highlighting the need for further research. Objective: ...
Kalle J Niemi,Annu Huovinen,Elina Jaakkola et al.
Kalle J Niemi et al.
Background: Emotions are reflected in bodily sensations, and these reflections are abnormal in psychiatric conditions. However, emotion-related bodily sensations have not been studied in neurological disorders. ...
Cervical Dystonia Caused by Variant of ATP13A2 Responsive to Subthalamic Deep Brain Stimulation [0.03%]
ATP13A2变异引起的颈肌张力障碍对丘脑底核的刺激治疗有效
Mingming Zhao,Xin Yan,Lin Wang et al.
Mingming Zhao et al.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia [0.03%]
CA8相关性常染色体隐性遗传小脑共济失调的临床及分子特征
Rauan Kaiyrzhanov,Juan Darío Ortigoza-Escobar,Brett W Stringer et al.
Rauan Kaiyrzhanov et al.
Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syn...