A monoallelic 8q24.3-duplication involving a single protein encoding TSNARE1 gene may be linked to a new leukodystrophy [0.03%]
涉及编码蛋白TSNARE1基因的单等位8q24.3重复序列与一种新的脑白质营养不良有关
Anton Karabinos,Erika Tomkova,Katarina Tothova et al.
Anton Karabinos et al.
TSNARE1 regulates the endolysosomal membrane trafficking in cortical neurons and its overexpression might be associated with schizophrenia, but no definitive link to this or any other human pathology has been established yet. Here we presen...
Case Reports
Neurogenetics. 2025 Aug 2;26(1):57. DOI:10.1007/s10048-025-00839-2 2025
Association of LRRK2 R1628P variant with Parkinson's disease in Kinh Vietnamese: a cross-sectional study [0.03%]
LRRK2 R1628P变异与京族帕金森病的关联：一项横断面研究
Minh Duc Do,Tai Ngoc Tran,Linh Hoang Gia Le et al.
Minh Duc Do et al.
Parkinson's disease (PD) is a complex disorder with contributions by environmental and genetic factors. LRRK2 R1628P is a major genetic risk factor for developing PD in Asian populations. However, the effect of this variant in Kinh Vietname...
Pro-inflammatory cytokine genetic variants show variable susceptibility to mild cognitive impairment, alzheimer's disease and frontotemporal dementia in South India [0.03%]
南印度轻度认知障碍、阿尔茨海默病和额颞叶痴呆的遗传变异显示炎症细胞因子易感性不同
Aswathy Peethambaran Mallika,Jairani Pushparajan Sulajamani,Mathuranath Pavagada Sivasankara et al.
Aswathy Peethambaran Mallika et al.
Dementia is a general term for loss of memory, ling and other thinking abilities that are severe enough to interfere with daily life. It is very crucial to distinguish the different forms of dementia such as Alzheimer's disease (AD), fronto...
Moyamoya disease presenting with transient nonfocal neurological attacks in an Indian woman carrying a previously unreported RNF213 missense variant (p.Thr554Ile) [0.03%]
一名携带新报告的RNF213错义变异(p.Thr554Ile)的印度女性短暂非局灶性神经症状型 moyamoya 病患者
Ritwick Mondal,Shramana Deb,Nirmalya Ray et al.
Ritwick Mondal et al.
Moyamoya disease is a rare cerebrovascular disorder characterized by progressive internal carotid artery stenosis and compensatory collateral vessel formation, producing a characteristic "puff of smoke" angiographic appearance. Genetic pred...
Case Reports
Neurogenetics. 2025 Jul 19;26(1):54. DOI:10.1007/s10048-025-00836-5 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2 [0.03%]
Noonan样综合征伴松动性直发2的患儿中的完全联合发育不全
Simone Gana,Luisa Piccinni,Elisa Rognone et al.
Simone Gana et al.
RASopathies are a wide group of multisystemic disorders caused by pathogenic variants in genes belonging to the RAS/MAPK pathway. Among these, PPP1CB gene variants cause Noonan syndrome-like disorder with loose anagen hair 2 (NSLAH2), a rar...
Case Reports
Neurogenetics. 2025 Jun 30;26(1):53. DOI:10.1007/s10048-025-00832-9 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias [0.03%]
遗传性痉挛截瘫阿尔及利亚患者的临床和基因诊断经验报告
Mouna Messaoud-Khelifi,Razika Boulariah-Hadjou,Mohamed Islam Kediha et al.
Mouna Messaoud-Khelifi et al.
Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay [0.03%]
自闭症谱系障碍、癫痫和神经发育迟缓患者中新型MARK2基因变异的鉴定
Xiaolan Sun,Yong Chen,Jianmin Zhong et al.
Xiaolan Sun et al.
Autism spectrum disorder (ASD) is a neurodevelopmental condition that is frequently accompanied by developmental delay and epilepsy. There is increasing evidence that genetic factors play a key role and that variations in the MARK2 gene are...
Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters [0.03%]
眼球震颤和斜视在曲蛋白缺乏性全身性白化病中的临床特点、诊断及神经递质的作用
Vaishali Dobhal,Ashwani Kumar,Ishu Garg et al.
Vaishali Dobhal et al.
The rare recessive autosomal non-communicable disorder oculocutaneous albinism causes discoloration of the eye, hair, and skin. Oculocutaneous albinism is a hereditary group of disorders with sub-differential characteristics like reduction ...
Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy [0.03%]
KCNA2相关性发育性癫痫性脑病家系的临床及基因分析
Arastoo Kaki,Maedeh Ganji,Mohammad Farid Mohammadi et al.
Arastoo Kaki et al.
Developmental and epileptic encephalopathy type 32 (DEE32) is a severe neurological disorder caused by pathogenic variants in the KCNA2 gene, encoding the Kv1.2 voltage-gated potassium channel. DEE32 typically presents with early-onset seiz...
Case Reports
Neurogenetics. 2025 Jun 14;26(1):49. DOI:10.1007/s10048-025-00829-4 2025
Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities [0.03%]
斑马鱼作为自闭症研究工具：揭示Shank3、Cntnap2、Neuroligin3和Arid1b在突触及行为异常中的作用
Akansha Pal,Falguni Goel,Vipin Kumar Garg
Akansha Pal
Autism Spectrum Disorder, a complex neurodevelopmental disorder, is manifested by deficits in social communication and restricted, repetitive patterns of behavior, interests, or activities. Its molecular mechanism of pathology is not that m...