Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22 [0.03%]
PMP22罕见点突变的Charcot-Marie-Tooth疾病患者免疫治疗的重复明确疗效
Honami Kawai,Yoichiro Nishida,Takashi Kanda et al.
Honami Kawai et al.
We describe a unique patient who had been diagnosed with inflammatory demyelinating polyneuropathy (CIDP) for 13 years with frequent clear responses to immunotherapies and was finally diagnosed with Charcot-Marie-Tooth disease (CMT) with a ...
Case Reports
Neurogenetics. 2025 Mar 24;26(1):37. DOI:10.1007/s10048-025-00808-9 2025
Baoguang Li,Zhenzhen Qu,Wenjuan Wu et al.
Baoguang Li et al.
Mutations in the DEPDC5 gene are inherited in an autosomal dominant manner and can lead to various clinical phenotypes, including focal seizures. While numerous case reports on DEPDC5 mutations exist, functional validation studies remain sc...
A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family [0.03%]
ARSA基因的一种新变异导致马里家族婴儿型异染性白质脑病罕见表型
Alassane Baneye Maiga,Abdoulaye Arama,Abdoulaye Yalcouyé et al.
Alassane Baneye Maiga et al.
Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by ARSA gene variants, affecting central and peripheral nervous systems. While ARSA variants are reported globally, data from sub-Saharan Africa (SSA...
Case Reports
Neurogenetics. 2025 Mar 11;26(1):35. DOI:10.1007/s10048-025-00814-x 2025
Investigating the gut microbiome in schizophrenia cases versus controls: South Africa's version [0.03%]
精神分裂症病例与对照组的肠道微生物群研究：南非版本
Carlien Rust,Laila Asmal,Michaela O&#x;Hare et al.
Carlien Rust et al.
Schizophrenia (SCZ) is a chronic and severe mental disorder with a complex molecular aetiology. Emerging evidence indicates a potential association between the gut microbiome and the development of SCZ. Considering the under-representation ...
The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency [0.03%]
ATP5MK基因新型突变的第四个世界家族：五个兄弟姐妹患有复合物V（ATP合成酶）缺乏症
Rojan İpek,Akçahan Akalın,Esra Habiloğlu et al.
Rojan İpek et al.
Mitochondrial Complex V (ATP synthase) deficiency nuclear type 6 (MC5DN6) is a progressive neurodegenerative disorder characterized by autosomal recessive inheritance and developmental regression, particularly in gross motor skills, which m...
Case Reports
Neurogenetics. 2025 Feb 27;26(1):33. DOI:10.1007/s10048-025-00813-y 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNP [0.03%]
ADNP基因新发变异导致13岁女孩轴突运动多发性神经病
Sara Scaccini,Carlo Alberto Cesaroni,Stefano Giuseppe Caraffi et al.
Sara Scaccini et al.
ADNP-Related Disorder [previously known as Helsmoortel-Van der Aa syndrome (HVDAS)] is a rare genetic condition resulting from mutations in the activity-dependent neuroprotector homeobox (ADNP) gene. The ADNP protein has multiple functions,...
Case Reports
Neurogenetics. 2025 Feb 24;26(1):32. DOI:10.1007/s10048-025-00815-w 2025
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses [0.03%]
通过序列、结构和分子动力学分析预测罕见神经遗传病施万细胞瘤(SMARCB1基因错义变异)的高风险临床变异
Mitesh Patel,Reem Binsuwaidan,Malvi Surti et al.
Mitesh Patel et al.
The SMARCB1 gene codes for a key element of the SWI/SNF chromatin-modifying complex, which plays a vital role in controlling gene expression by modifying chromatin architecture. Alterations in SMARCB1 have been linked to several neurologica...
20 years of ROBO3-related horizontal gaze palsy with progressive scoliosis: a mini-review [0.03%]
与ROBO3相关的水平凝视麻痹合并进行性脊柱侧凸20年：小型回顾
Ehab Y Harahsheh,Lauren E Moxley,Matu Al-Amin et al.
Ehab Y Harahsheh et al.
ROBO3 is a member of the Roundabout (ROBO) gene family of evolutionarily conserved guidance receptors, which plays crucial roles in axon crossing of the CNS midline. In 2004, pathogenic variants in ROBO3 were first linked to Horizontal Gaze...
Early-onset Parkinson's disease in a patient with a rare homozygous pathogenic GBA1 variant and no Gaucher disease symptoms [0.03%]
携带罕见纯合病理性GBA1基因变异但没有出现戈谢病症状的帕金森病早期患者
Juliana Cordovil Cotrin,Rafael Mina Piergiorge,Andressa Pereira Gonçalves et al.
Juliana Cordovil Cotrin et al.
Parkinson's disease (PD) is a multifaceted neurodegenerative disorder with both non-motor and motor symptoms. Variants in the glucosylceramidase beta 1 (GBA1) gene are the strongest genetic risk factor for PD, while homozygous or compound h...
Case Reports
Neurogenetics. 2025 Feb 15;26(1):28. DOI:10.1007/s10048-025-00810-1 2025
Identification of critical genes and drug repurposing targets in entorhinal cortex of Alzheimer's disease [0.03%]
阿尔茨海默病患者内侧颞叶组织中关键基因和老药新用候选药物的鉴定
Arghavan Hosseinpouri,Khadijeh Sadegh,Zeinab Zarei-Behjani et al.
Arghavan Hosseinpouri et al.
Alzheimer's disease (AD) is a slow brain degeneration disorder in which the accumulation of beta-amyloid precursor plaque and an intracellular neurofibrillary tangle of hyper-phosphorylated tau proteins in the brain have been implicated in ...