Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease [0.03%]
Lafor病进展的生物标志物神经丝轻链蛋白
Lorenzo Muccioli,Bazile Ganceviciute,Felicitas Becker et al.
Lorenzo Muccioli et al.
Background and objectives: Lafora disease (LD) is a severe, ultra-rare childhood-onset progressive myoclonus epilepsy caused by biallelic pathogenic variants in either EPM2A or NHLRC1 and currently without cure. Body flui...
Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings [0.03%]
vanishing白质病EIF2B2 c.254T>A变异：轻度临床和MRI表现的校正(erratum)
Toshiyuki Kakumoto,Takashi Matsukawa,Ryo Tokimura et al.
Toshiyuki Kakumoto et al.
[This corrects the article DOI: 10.1212/NXG.0000000000200293.]. © 2025 American Academy of Neurology.
Published Erratum
Neurology. Genetics. 2025 Oct 10;11(6):e200324. DOI:10.1212/NXG.0000000000200324 2025
Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative [0.03%]
加拿大开展莱基氏病研究和护理的全国网络建设：CARELeuko计划
Alexandra Chapleau,Adam Le,Justin Simo et al.
Alexandra Chapleau et al.
Leukodystrophies (LDs) are a group of rare, genetic disorders unified by their hallmark involvement of the cerebral white matter. They are typically characterized as progressive disorders, resulting in severe neurologic decline and prematur...
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies [0.03%]
早发性髓磷脂蛋白零相关神经病的表型与基因型相关性研究
Christian Laurini,Federica Rachele Danti,Massimo Russo et al.
Christian Laurini et al.
Background and objectives: Myelin protein zero (MPZ)-related neuropathies include demyelinating CMT1B and later-onset axonal forms (CMT2I/J). CMT1B pathogenic variants act through gain-of-function, destabilizing MPZ and a...
A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2 [0.03%]
两个脊髓萎缩伴共济失调型2病例的新型KIF1C同合子变异
Katariina Granath,Salla M Kangas,Sanna Huhtaniska et al.
Katariina Granath et al.
Objectives: Variants of unknown significance (VUS) pose an extensive clinical challenge. Our objective was to explore the diagnostic pipeline from symptom onset to molecular diagnosis in autosomal recessive (Spastic ataxi...
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes [0.03%]
未确诊神经发育障碍病例的再分析：从RNU4-2变异到临床表型
Pasquale Di Letto,Chiara De Leonibus,Francesca Pia Palmieri et al.
Pasquale Di Letto et al.
Background and objectives: Neurodevelopmental disorders (NDDs) are often the results of genetic factors, whose identification and key role in their etiology may be elusive. Despite advancements in genetic testing, many ca...
Patricia K Baskin
Patricia K Baskin
[This corrects the article on p. ii in vol. 11.][This corrects the article on p. ii in vol. 11.]. © 2025 American Academy of Neurology.
Published Erratum
Neurology. Genetics. 2025 Aug 27;11(5):e200298. DOI:10.1212/NXG.0000000000200298 2025
Neurodevelopmental and Neurologic Manifestations of PTEN Hamartoma Tumor Syndrome: Management Recommendations [0.03%]
PTEN错构瘤肿瘤综合征的神经发育和神经系统表现：管理建议
Andrew Dhawan,Darren Liu,Sarah Baitamouni et al.
Andrew Dhawan et al.
Background and objectives: PTEN hamartoma tumor syndrome (PHTS) is an autosomal dominant cancer predisposition and overgrowth syndrome due to pathogenic germline variants in the PTEN gene. PHTS harbors a diverse range of ...
Genetic Architecture of Cerebral White Matter Hyperintensities in Diverse Hispanic/Latino Adults [0.03%]
多民族拉丁裔成年人脑白质高信号的遗传结构
Myriam Fornage,Rui Xia,Adriana Ordonez et al.
Myriam Fornage et al.
Background and objectives: Cerebral white matter hyperintensities (WMHs) on MRI are part of the spectrum of age-related brain vascular injury and are associated with increased risk of stroke and dementia. Genome-wide asso...
Alternating Hemiplegia of Childhood and ATP1A3-Related Diseases: Insights From a Decade of Discovery and Collaboration [0.03%]
儿童交替性偏瘫和ATP1A3相关疾病：十年研究与合作的启示
Alexander J Simpson,Ailsa McLellan,Katherine Elizabeth Behl et al.
Alexander J Simpson et al.
This report presents key insights from the 2022 annual conference held in Edinburgh, commemorating the 10th anniversary of the discovery of ATP1A3 variants in alternating hemiplegia of childhood (AHC). This milestone event marked a decade o...