Bridging the gap: pyridoxine-dependent epilepsy (PDE-ALDH7A1) diagnosis and management in a low-resource setting [0.03%]
因地制宜的吡哆醇依赖性癫痫(PDE-ALDH7A1)诊疗联系机制
Andika Priamas Nugrahanto,Agung Triono,Neti Nurani et al.
Andika Priamas Nugrahanto et al.
Pyridoxine-dependent epilepsy (PDE) is a rare genetic metabolic disorder characterized by seizures that are often resistant to conventional antiseizure medication but responsive to pyridoxine. Although its early diagnosis and treatment are ...
Case Reports
Neurogenetics. 2025 Sep 19;26(1):67. DOI:10.1007/s10048-025-00850-7 2025
Aisha Tahir,Sania Jamal,Usman Ali Shams et al.
Aisha Tahir et al.
Huntington's disease (HD) is a progressive, autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and psychiatric disturbances. It is caused by CAG repeat expansions in the HTT gene, resulting ...
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene [0.03%]
KRIT1基因新型胚系结构变异导致的家族性脑海绵状血管瘤
Robin A Pilz,Matthias Begemann,Surema Pfister et al.
Robin A Pilz et al.
The detection of complex structural variants in patients with familial cerebral cavernous malformations (FCCM) remains challenging. Short-read whole genome sequencing was performed for a patient with strong clinical evidence of FCCM but neg...
Case Reports
Neurogenetics. 2025 Aug 28;26(1):65. DOI:10.1007/s10048-025-00847-2 2025
Schinzel-Giedion syndrome: communication, feeding and motor skills in 16 individuals [0.03%]
Schinzel-Giedion综合征：16名患者的交流、喂养和运动能力
Lottie D Morison,Nuala Summerfield,Dana Bradley et al.
Lottie D Morison et al.
Schinzel-Giedion Syndrome (SGS) is a rare neurodevelopmental disorder caused by pathogenic SETBP1 gain-of-function variants. SGS medical features have been well described. Associated skills critical to quality of life have such as communica...
Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome [0.03%]
KCNH2病理性变异导致同卵双胞胎患者二型长QT综合征及语言发育迟缓较低风险型病例报告
Katia Margiotti,Marco Fabiani,Costanza Zangheri et al.
Katia Margiotti et al.
Type 2 Long QT Syndrome (type 2 LQTS) is a cardiac channelopathy caused by pathogenic variants in the KCNH2 gene, often associated with delayed cardiac repolarization and increased risk of arrhythmias. While its impact is traditionally cons...
KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity [0.03%]
KIF1C相关障碍：痉挛性共济失调还是髓鞘形成不良性白质脑病？一个分类模糊性的典范
Chiara Benzoni,Marco Moscatelli,Daniela Di Bella et al.
Chiara Benzoni et al.
A 40-year-old man with adult-onset spastic-ataxia and tremor showed a leukoencephalopathy with a hypomyelinating pattern on brain MRI. Whole-exome sequencing identified two novel likely pathogenic variants in KIF1C, a gene associated with s...
Case Reports
Neurogenetics. 2025 Aug 12;26(1):62. DOI:10.1007/s10048-025-00844-5 2025
Whole exome sequencing identifies a novel variant causing Neurodegeneration with Brain Iron Accumulation syndrome (NBIA) in a consanguineous Pashtun family [0.03%]
全外显子组测序鉴定出一个新颖的变异引起普什图族近亲结婚家庭中的神经元脑铁蓄积症(NBIA)患者发病
Hayat Khan,Muhammad Ilyas,Hina Qasim et al.
Hayat Khan et al.
Neurodegenerative disorders pose a significant public health problem. Among these, neurodegeneration with brain iron accumulation syndrome (NBIA) is particularly challenging because even MRI imaging findings can be subtle. Understanding the...
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene [0.03%]
通过商用长读测序首次临床诊断FAME3揭示MARCHF6基因的嵌合体重复序列扩增
B Lakshitha A Perera,Russell Stewart,Yutaka Furuta et al.
B Lakshitha A Perera et al.
Familial Adult Myoclonic Epilepsy type 3 (FAME3) is a rare autosomal dominant disorder characterized by cortical tremor and epilepsy, caused by a noncoding pentanucleotide repeat expansion (TTTTA/TTTCA)n in the MARCHF6 gene. Conventional ge...
Case Reports
Neurogenetics. 2025 Aug 11;26(1):61. DOI:10.1007/s10048-025-00835-6 2025
Computational association in parkinson's disease SNPs with brain structural and functional alterations [0.03%]
帕金森病SNP与脑结构和功能异常的计算关联研究
Swetha Subramaniyan,Beena Briget Kuriakose,Vijay Nattan et al.
Swetha Subramaniyan et al.
Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder which seriously affects human health. Worldwide, there has been a significant increase in the incidence rate of PD reported in many populations. Several epigen...
Charting the genetic landscape of autosomal recessive hereditary spastic paraplegia: A deep dive into 10 exceptionally rare cases [0.03%]
全基因组范围内罕见常染色体隐性遗传痉挛性截瘫家系的致病突变筛查及发病机制探讨
Zehra Manav Yigit,Osman Semih Dikbas,Ayse Tosun et al.
Zehra Manav Yigit et al.
Hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of neurodegenerative disorders primarily characterized by progressive lower limb spasticity and weakness. Autosomal recessive HSPs (AR HSPs) are rare...