Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease [0.03%]
GBA1基因变异遗传咨询共识指导意见——帕金森病聚焦
Sophia R L Vieira,Roxana Mezabrovschi,Marco Toffoli et al.
Sophia R L Vieira et al.
Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within cou...
Amelioration of Focal Hand Dystonia via Low-Frequency Repetitive Somatosensory Stimulation [0.03%]
低频重复经体感皮质刺激改善局灶性手肌张力障碍
Lorenzo Rocchi,Anna Latorre,Elisa Menozzi et al.
Lorenzo Rocchi et al.
Background: Dystonia presents a growing concern based on evolving prevalence insights. Previous research found that, in cervical dystonia, high-frequency repetitive somatosensory stimulation (RSS; HF-RSS) applied on digit...
International Parkinson and Movement Disorder Society Viewpoint on Biological Frameworks of Parkinson's Disease: Current Status and Future Directions [0.03%]
国际帕金森病和运动障碍学会对帕金森病生物学框架的立场：现状与未来方向
Lorraine V Kalia,Daniela Berg,Jeffery H Kordower et al.
Lorraine V Kalia et al.
Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia [0.03%]
弗里德赖希共济失调的白细胞端粒长度的年龄依赖行为异常
Daniela Scarabino,Liana Veneziano,Suran Nethisinghe et al.
Daniela Scarabino et al.
Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by an expanded GAA repeat in the first intron of the FXN gene. ...
Houston, We Have AI Problem! Quality Issues with Neuroimaging-Based Artificial Intelligence in Parkinson's Disease: A Systematic Review [0.03%]
人工智能出了问题！帕金森病神经影像基于的人工智能质量问题：系统性综述
Verena Dzialas,Elena Doering,Helena Eich et al.
Verena Dzialas et al.
In recent years, many neuroimaging studies have applied artificial intelligence (AI) to facilitate existing challenges in Parkinson's disease (PD) diagnosis, prognosis, and intervention. The aim of this systematic review was to provide an o...
A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification [0.03%]
NAA60同合子变异与原发性家族脑钙化相关
Xinhui Chen,Yihua Shi,Feng Fu et al.
Xinhui Chen et al.
Background: Primary familial brain calcification (PFBC) is a monogenic disorder characterized by bilateral calcifications in the brain. The genetic basis remains unknown in over half of the PFBC patients, indicating the e...
Rest Tremor in Parkinson's Disease Is Associated with Ipsilateral Striatal Dopamine Transporter Binding [0.03%]
帕金森病静止性震颤与同侧黑质多巴胺转运蛋白结合的关系
Kalle J Niemi,Juha Sunikka,Hamid Soltanian-Zadeh et al.
Kalle J Niemi et al.
Background: The cardinal motor symptoms of Parkinson's disease (PD) include rigidity, bradykinesia, and rest tremor. Rigidity and bradykinesia correlate with contralateral nigrostriatal degeneration and striatal dopamine ...
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA [0.03%]
由IRF2BPL引起的相关疾病，表现为进行性神经发育障碍、运动异常、语言丧失和癫痫（NEDAMSS）的病理表现与DRPLA相似
Sunita Venkateswaran,Jean Michaud,Yoko Ito et al.
Sunita Venkateswaran et al.
Background: Childhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable presentations. Here, we present a child with progressive neurod...
Systematic Review of the Cost of Illness of Parkinson's Disease from a Societal Perspective [0.03%]
社会视角下帕金森病的疾病负担成本系统综述研究
Anke Wijers,Anirudhan Ravi,Silvia M A A Evers et al.
Anke Wijers et al.
Previous reviews on the cost of illness (COI) of Parkinson's disease (PD) have often focused on health-care costs due to PD, underestimating its effects on other sectors. This systematic review determines the COI of PD from a societal persp...
Unraveling Primary Familial Brain Calcification Mechanisms: Are NAA60 and SLC20A2 Partners in Crime? [0.03%]
解密原发性家族脑钙化机制：NAA60和SLC20A2是罪魁祸首吗？
Max Brand,Ana Westenberger
Max Brand