Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments [0.03%]
脑铁沉积症(NBIA)的精准医疗：新兴治疗策略最新研究进展
Susanne A Schneider,Divyani Garg,Vassilena Iankova et al.
Susanne A Schneider et al.
Background: Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and b...
Disease-Duration-Specific Percentiles for Prospective Subtyping of Parkinson's Disease: A PPMI-Based Study [0.03%]
基于PPMI的帕金森病前瞻性分型的疾病进程特定百分位点研究
Ahmed Negida,Nitai Mukhopadhyay,Brian D Berman et al.
Ahmed Negida et al.
Background: Parkinson's disease (PD) is clinically heterogeneous, with variable progression rates that complicate clinical trial design. The data-driven diffuse malignant (DM), intermediate (IM), and mild-motor predominan...
Continuous Intrajejunal Levodopa-Carbidopa Infusion in Parkinson's Disease Associated with 22q11.2 Deletion Syndrome: A Case Series [0.03%]
与22q11.2缺失综合征相关的帕金森病的肠内左旋多巴-卡比多巴输注：一系列病例报告
Valle Victor Andrés,Jardel Amory,Hopes Lucie et al.
Valle Victor Andrés et al.
Background: 22q11.2 deletion syndrome (22q11DS) is a multisystem genetic disorder associated with a significantly increased risk of early-onset Parkinson's disease (EOPD). Management is challenging because psychiatric and...
Diagnostic Pitfalls of Action-Induced Tremor: A Case Report of Benign Adult Familial Myoclonic Epilepsy Treated with Thalamic Lesioning [0.03%]
行动诱发性震颤的诊断陷阱——一例家族性良性成人肌阵挛癫痫进行丘脑毁损治疗的病例报告
Yoshito Sugita,Miho Kawabe Matsukawa,Namiko Nishida et al.
Yoshito Sugita et al.
Clinical Scales and Wearable Sensors in Patients with Essential Tremor Treated with Deep Brain Stimulation [0.03%]
深部脑刺激治疗的特发性震颤患者的临床量表和可穿戴传感器参数
Elena Jiltsova,Anna Hauffman,Dag Nyholm
Elena Jiltsova
Background: Deep brain stimulation (DBS) for essential tremor (ET) is commonly evaluated using tremor scales, which capture only snapshot of symptoms and miss daily variability. Wearable sensors enable objective monitorin...
Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism [0.03%]
DNAJC6新纯合致病突变导致快速进展性帕金森病
André Luiz Santos Pessoa,Thiago Gonçalves Guimarães,Diego de Castro Dos Santos et al.
André Luiz Santos Pessoa et al.
Background: Biallelic variants in DNAJC6 cause PARK-DNAJC6 (historically referred to as PARK19), a rare autosomal recessive juvenile-onset dystonia-parkinsonism syndrome. Neurodevelopmental delay or regression, epilepsy, ...
Surgical Intervention for Posthyperglycemic Hemiballismus: Illustrative Case and Literature Review [0.03%]
术后半侧投掷症的手术治疗一例及文献复习
Racheed Mani,Tiffany Kim,Thomas Kim et al.
Racheed Mani et al.
Background: Hemiballismus/hemichorea can manifest as a systemic sequala of severe hyperglycemia. This typically resolves with optimal glycemic control supplemented by neuroleptic agents. However, in a subset of patients, ...
Cardiac Sympathetic Neuroimaging in Autonomic Synucleinopathies: 123I-Metaiodobenzylguanidine and 18F-Dopamine [0.03%]
肾上腺素能突触核蛋白病的 cardiac sympathetic neuroimaging：123I-间碘苯基苄基胍和18F-多巴胺
David S Goldstein
David S Goldstein
In the diagnostic evaluation of Parkinson's disease (PD), cardiac sympathetic neuroimaging has been viewed as a supportive test. This review argues that the clinical and scientific value of cardiac sympathetic neuroimaging is broader than b...
Acetazolamide-Responsive Exertion-Triggered Episodic Ataxia in DHDDS-Related Congenital Disorder of Glycosylation [0.03%]
DHDDS相关糖基化障碍的乙酰唑胺反应性劳力诱发性阵发性共济失调
Jai Kumar Rajavoor Muniswamy,Liam Selvido,Elise Van Zele et al.
Jai Kumar Rajavoor Muniswamy et al.
Epileptic-Dyskinetic Encephalopathy in Snijders Blok-Campeau Syndrome: Expanding the Phenotypic Spectrum [0.03%]
Snijders Blok- Campeau 综合征的癫痫性肌张力障碍脑病：扩展表型谱系
Karamala Yalapalli Manisha,Asish Vijayaraghavan,Maraludevanapura Govindaiah Rohith et al.
Karamala Yalapalli Manisha et al.
Case Reports
Movement disorders clinical practice. 2026 Jul 2. DOI:10.1002/mdc3.70727 2026