LAMB1-associated leukoencephalopathy: a continuum from a prenatal, recessive syndrome to a dominant, adult-onset disorder [0.03%]
与LAMB1相关的白质脑病：从一种胎儿期隐性综合征到成年期显性发病的连续谱病症
José Zamora,Víctor Faundes
José Zamora
A 1 year 11 months-old female patient displayed focal seizures symptoms with good response to oxcarbazepine. Her brain magnetic resonance imaging (MRI) showed white-matter, bilateral and symmetrical hyperintense foci in periventricular pari...
Case Reports
Neurogenetics. 2025 Dec 9;26(1):87. DOI:10.1007/s10048-025-00872-1 2025
A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32 [0.03%]
脊髓小脑共济失调 32 型患儿过氧化物酶体硫氧还蛋白还原酶 3 同质致病突变的临床特征及遗传特点分析
Jiaxuan Yang,Yonglin Yu,Hongfang Jiang et al.
Jiaxuan Yang et al.
Spinocerebellar ataxia type 32 (SCAR32) is a rare autosomal neurodegenerative disorder caused by mutations in the peroxiredoxin 3 (PRDX3) gene, which encodes a mitochondria-specific antioxidant enzyme critical for maintaining cellular redox...
Case Reports
Neurogenetics. 2025 Dec 6;26(1):86. DOI:10.1007/s10048-025-00869-w 2025
Research progress of platelet-rich plasma in promoting peripheral nerve repair [0.03%]
富血小板血浆促周围神经修复的研究进展
Fengqing Wu,Zekai Huang,Huan Yang et al.
Fengqing Wu et al.
L-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment [0.03%]
左旋多巴治疗阵发性日间肌张力障碍的两种不同临床表现及治疗方法
Beyza Karataş,Ayten Güleç,Ömer YiğitSezer et al.
Beyza Karataş et al.
Dopa-responsive dystonia (DRD) is a rare disorder in children and is notable for the fact that it can be effectively treated. The diagnosis of DRD assumes significant importance when there is a notable improvement in the patient's psychomot...
Case Reports
Neurogenetics. 2025 Dec 2;26(1):84. DOI:10.1007/s10048-025-00865-0 2025
Genetic insights into the causal role of metabolic, immune, and microbial factors in migraine [0.03%]
遗传学见解揭示代谢、免疫和微生物因素在偏头痛中的因果作用
Zixuan Xing,Junxiang Gu,Cong Wu et al.
Zixuan Xing et al.
Migraine is a highly prevalent neurological disorder that imposes significant personal and economic burdens worldwide. However, the causal relationships between these biological factors and migraine remain poorly understood. This study aime...
Missense variants in PKAN: insights from a multi-patient genetic analysis [0.03%]
PKAN错义变异的多患者遗传分析意义及启示
Melisa Kılıç,Sevcan Mercan,Banu Özen Barut et al.
Melisa Kılıç et al.
Clinical value of dyslipidemia and glycemic variability for progression to dementia in type 2 diabetes mellitus-associated mild cognitive impairment [0.03%]
糖尿病前期轻度认知障碍患者向痴呆发展的临床危险因素：血脂异常与血糖变异性的价值研究
GuiTing Liu,SiOu Li,XiaoXuan Qi et al.
GuiTing Liu et al.
This study aims to investigate the clinical baseline characteristics and HbA1c variability in elderly patients with mild cognitive impairment (MCI) associated with type 2 diabetes mellitus (T2DM), as well as the synergistic relationship bet...
A novel homozygous loss-of-function NOTCH3 variant in a Moroccan patient: expanding the spectrum beyond CADASIL [0.03%]
摩洛哥患者的NOTCH3新突变型同功纯合缺失的功能变异：超出CADASIL的范畴
Amal Ouskri,Hajar Ihlal,Zaid En-Nasery et al.
Amal Ouskri et al.
NOTCH3, a key regulator of vascular smooth muscle cell function within the Notch signaling pathway, is essential for maintaining small artery integrity, especially in cerebral microvasculature. Pathogenic heterozygous missense variants in N...
Case Reports
Neurogenetics. 2025 Nov 6;26(1):80. DOI:10.1007/s10048-025-00862-3 2025
CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variant [0.03%]
MYBPC3剪切位点变异杂合子患者的CADASIL样脑血管病
Ehab Harahsheh,Bukola A Olarewaju,Deanna M Weaver et al.
Ehab Harahsheh et al.
MYBPC3 (Myosin-binding site protein C3) alterations are associated with hypertrophic cardiomyopathy (HCM). However, the neuroimaging features of these patients are not well-described in the literature. We present a unique case of cerebral a...
Case Reports
Neurogenetics. 2025 Nov 5;26(1):79. DOI:10.1007/s10048-025-00861-4 2025
Differential genetic background control state-dependent courtship ultrasonic vocalizations in mice [0.03%]
遗传背景调控小鼠状态依赖性求偶超声的分子机制研究
Saeyeon Na,Jia Ryoo,Chang Bum Ko et al.
Saeyeon Na et al.
In male mice, courtship behaviors encompass distinct appetitive and consummatory phases, accompanied by ultrasonic vocalizations (USV) that vary with courtship progression and exhibit strain-specific patterns. Despite these differences, how...