Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1 [0.03%]
芬戈莫德治疗神经元 ceroid 溶酶体贮积症 1 型的试点研究
Martina Messina,Rebecca Whiteley,Chin Gan et al.
Martina Messina et al.
Background and objectives: Neuronal ceroid lipofuscinosis type 1 (CLN1) is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the PPT1 gene, leading to lipofuscin accumulation, neurodeg...
Theeraphong Pho-Iam,Pimchanok Kulsirichawaroj,Surachai Likasitwattanakul et al.
Theeraphong Pho-Iam et al.
Objectives: Congenital insensitivity to pain (CIP) is a rare sensory neuropathy marked by absent nociception that predisposes patients to injuries and complications. Variants in genes, particularly PRDM12, underlie the co...
Expanding the Genetic Landscape of ATXN2 Variants: Insights From a Biallelic Trinucleotide Repeat Expansion in an Acadian Family [0.03%]
ATXN2变异的遗传景观扩大：来自一个Acadian家族的二倍体三核苷酸重复扩增的启示
Jacob Saucier,Mohammad Al-Qadi,Eric Pierre Allain et al.
Jacob Saucier et al.
Background and objectives: Spinocerebellar ataxias are a diverse group of autosomal dominant cerebellar ataxias. SCA2 is a complex ataxia with various extracerebellar symptoms, including parkinsonism, dystonia, hyporeflex...
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy [0.03%]
SCN2A新发嵌合变异体的功能表征与早发性婴儿发育和癫痫性脑病相关性研究
Anna Corradi,Antonella Riva,Bruno Sterlini et al.
Anna Corradi et al.
Background and objectives: Pathogenic variants in the SCN2A gene, encoding the α-subunit type 2 of the voltage-gated sodium channel NaV1.2, cause a phenotypic spectrum including 4 major disorders as benign familial infan...
Erratum: Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers [0.03%]
dystrophinopathy基因缺陷的女性携带者全身骨骼肌MRI图像模式中的错误之处:致歉公告
Alejandra P Vigliano,Leonela Luce,José Manuel Pastor Rueda et al.
Alejandra P Vigliano et al.
[This corrects the article DOI: 10.1212/NXG.0000000000200301.]. © 2026 American Academy of Neurology.
Published Erratum
Neurology. Genetics. 2026 Jan 23;12(1):e200349. DOI:10.1212/NXG.0000000000200349 2026
International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy [0.03%]
国际脊髓和球麻痹患者遗传素养调查
Shinichiro Yamada,Atsushi Hashizume,Daisuke Ito et al.
Shinichiro Yamada et al.
Background and objectives: Genetic literacy is important for the development and implementation of novel therapies for inherited neurodegenerative diseases such as spinal and bulbar muscular atrophy (SBMA). However, genet...
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report [0.03%]
导致桥脑小脑发育不全和迟发型神经 ferritinopathy 的常染色体显性 FTH1 基因变异：一例报告
Jasmijn Annemiek Hebbink,Jikke-Mien F Niermeijer,Elene Vroegindeweij et al.
Jasmijn Annemiek Hebbink et al.
Objectives: We report on a patient with a distinct clinical and neuroradiologic phenotype and a de novo variant in the FTH1 gene. Methods: ...
Immune Cell Mitochondrial Phenotypes Are Largely Preserved in Mitochondrial Diseases and Do Not Reflect Disease Severity [0.03%]
线粒体疾病中免疫细胞的线粒体表型基本保持不变且不反映疾病严重程度
Cynthia C Liu,Mangesh Kurade,Anna S Monzel et al.
Cynthia C Liu et al.
Background and objectives: The aim of this study was to profile immune cell mitochondrial phenotypes in mitochondrial diseases (MitoD) and evaluate how these phenotypes relate to disease manifestations or biomarkers. ...
Characterization of Sleep in Alternating Hemiplegia of Childhood: An International Survey [0.03%]
儿童交替性偏瘫睡眠特征的国际调查研究
Francesco Fortunato,Umesh Vivekananda,Katherine Elizabeth Behl et al.
Francesco Fortunato et al.
Background and objectives: Few studies have investigated sleep features in people with alternating hemiplegia of childhood (AHC). In this study, we present a bespoke survey of individuals with AHC to characterize sleep di...
Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution [0.03%]
小儿先天性脑积水的临床特征及遗传分布
Issa Alawneh,Alberto Alemán,Elisa Nigro et al.
Issa Alawneh et al.
Background and objectives: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of hereditary peripheral neuropathies. While pediatric-onset CMT exhibits unique clinical and genetic characteristics, data on this sub...