Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype [0.03%]
两种罕见遗传病病例的脑畸形、神经发育障碍和癫痫：重叠表型
Emine Karatas,Ayten Gulec,Maide Korkmaz et al.
Emine Karatas et al.
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated wit...
Case Reports
Neurogenetics. 2024 Dec 26;26(1):16. DOI:10.1007/s10048-024-00795-3 2024
Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing [0.03%]
线粒体遗传性神经病、脑病、肌肉病变和肾功能衰竭综合征致病基因NDUFA3的鉴定：全外显子组测序分析
Bao-Guang Li,Wen-Juan Wu,Li-Hui Wang et al.
Bao-Guang Li et al.
Background: Leigh syndrome is a common mitochondrial disorder caused by gene mutations in the nucleus and mitochondria. When building mitochondrial complex I, the main subunit ND1 combines with the Q module to form a 273 ...
Case Reports
Neurogenetics. 2024 Nov 28;26(1):13. DOI:10.1007/s10048-024-00782-8 2024
Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases [0.03%]
基于脑脊液代谢组学的神经退行性疾病病因联系的孟德尔随机化研究
Jingjing Zhang,Xin Zhang,Boan Xiao et al.
Jingjing Zhang et al.
To investigate the causal relationships between cerebrospinal fluid (CSF) metabolites and various neurodegenerative diseases (NDDs), we conducted a two-sample Mendelian randomization (MR) analysis. This study utilized summary statistics fro...
Sheyda Khalilian,Mohadeseh Fathi,Akram Ghahghaei-Nezamabadi et al.
Sheyda Khalilian et al.
Neurodegeneration with brain iron accumulation 5 (NBIA5) is a distinctive type of NBIA phenotype that is caused by mutations in the WDR45 gene. This disorder is inherited in an X-linked manner. Here, we report three Iranian cases affected w...
Case Reports
Neurogenetics. 2024 Dec 4;26(1):14. DOI:10.1007/s10048-024-00783-7 2024
Three Iranian patients with rare subtypes of hereditary spastic paraplegia (HSP): SPG76, SPG56, and SPG69 [0.03%]
三个罕见遗传性痉挛性截瘫亚型（SPG76、SPG56和SPG69）的伊朗患者病例报告
Zahra Sadr,Aida Ghasemi,Mohammad Rohani et al.
Zahra Sadr et al.
Some subtypes of hereditary spastic paraplegia (HSP), especially with autosomal recessive inheritance (AR-HSP), have been reported rarely. In this study, we report the clinical features and molecular results of three unrelated Iranian patie...
Case Reports
Neurogenetics. 2024 Nov 28;26(1):12. DOI:10.1007/s10048-024-00789-1 2024
Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation [0.03%]
巨轴索神经病一罕见遗传性周围神经病变的新突变病例报告
Bita Poorshiri,Neda Jabbarpour,Mohammad Barzegar et al.
Bita Poorshiri et al.
We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age...
Case Reports
Neurogenetics. 2024 Nov 27;26(1):11. DOI:10.1007/s10048-024-00790-8 2024
Nutrigenomics and neurological disorders: exploring diet-brain interactions for cognitive health [0.03%]
营养基因组学与神经疾病：探索饮食-大脑相互作用以维护认知健康
Atifa Waheed,Maliha Ghaffar,Samavia Mustafa et al.
Atifa Waheed et al.
This review article investigates the intricate relationship between nutrigenomics and neurological disorders, highlighting how genetic variations affect an individual's response to nutrients. The study delves into the role of diet-related o...
Mild neurodevelopmental disorder due to reduced SHMT2 enzymatic activity caused by novel compound heterozygous variants: expanding the phenotypic spectrum [0.03%]
由于新型复合杂合变异导致的SHMT2酶活性降低所致的轻度神经发育障碍：扩展表型谱系
Hu Pan,Mei He,Xuan Luo et al.
Hu Pan et al.
Biallelic variants in SHMT2 cause neurodevelopmental disorders with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; OMIM: 619121). This recently described metabolic disorder are characterized by severe intellectual disability,...
Case Reports
Neurogenetics. 2024 Nov 26;26(1):7. DOI:10.1007/s10048-024-00784-6 2024
Analysis of Alzheimer's disease associated deleterious non-synonymous single nucleotide polymorphisms and their impacts on protein structure and function by performing in-silico methods [0.03%]
基于阿尔茨海默病的有害非同义单核苷酸多态性分析及其对蛋白质结构和功能影响的计算研究
Betul Akcesme,Nadia Islam,Delila Lekic et al.
Betul Akcesme et al.
Alzheimer's disease (AD) is a neurodegenerative disorder that is presented with a progressive loss of memory, a decline in cognitive abilities and multiple changes in behavior. Its pathogenicity has been linked to genetic factors in approxi...
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome [0.03%]
与RAPSN相关的先天性肌无力综合征伊朗患者的临床和基因型多样性
Aida Ghasemi,Seyed Jalaleddin Hadei,Sara KamaliZonouzi et al.
Aida Ghasemi et al.
Congenital myasthenic syndromes (CMSs) are genetic disorders affecting motor function with variable symptoms. RAPSN-related CMS, caused by mutations in the RAPSN gene, leads to muscle weakness. Accurate diagnosis is essential for proper man...