Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F [0.03%]
新型的基因及神经影像学特征在Charcot-Marie-Tooth疾病的分型4F中的应用研究
Hanna Küpper,Lara G Stühn,Kathrin Grundmann-Hauser et al.
Hanna Küpper et al.
Charcot-Marie-Tooth disease type 4F (CMT4F) is a rare hereditary sensorimotor neuropathy, linked to the periaxin (PRX) gene. Early onset, pronounced sensory ataxia and comparatively moderate muscular weakness are characteristic hallmarks. W...
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54 [0.03%]
扩大复合氧化磷酸化缺陷5的基因型谱系
King Lam Lai,Thomas B Smith,Reza Maroofian et al.
King Lam Lai et al.
Biallelic hypomorphic variants in PRORP cause the rare autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a clinical spectrum of sensorineural hearing loss and ovarian insuffici...
Association of TRPM7 gene mutation with familial vestibular migraine [0.03%]
TRPM7基因突变与家族性前庭型偏头痛的关系研究
Yong Luo,Jian Chen,Qian Li et al.
Yong Luo et al.
EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesion [0.03%]
与EFL2AK2相关的先天性双侧声带麻痹和脊髓病变伴缺myelin的脑白质营养不良
Yasuhiro Kawai,Azusa Ikeda,Koki Nagai et al.
Yasuhiro Kawai et al.
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15 [0.03%]
超低髓鞘形成白质消减症15型的新错义变异化合物杂合性及外显子缺失的研究
Akihiko Mitsutake,Takashi Matsukawa,Kenta Orimo et al.
Akihiko Mitsutake et al.
Hypomyelinating leukodystrophy 15 (HLD15) results from biallelic pathogenic variants in EPRS1, but exonic deletions have not been reported. We describe a 40-year-old woman with mild intellectual disability, ataxia, dystonia, and MRI showing...
Gene therapy for huntington's disease: advances, challenges, and future perspectives [0.03%]
亨廷顿舞蹈症的基因治疗：进展、挑战和未来前景
Riya Kaushal,Mohit Yadav,Sourabh Kosey et al.
Riya Kaushal et al.
A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5 [0.03%]
TPRKB 同合子内含子缺失变异导致的Galloway-Mowat综合征5型
Namanpreet Kaur,Khushbu Shirsat,Vivekananda Bhat et al.
Namanpreet Kaur et al.
Probable cerebral amyloid angiopathy - related inflammation in a 32-year-old woman with down syndrome [0.03%]
29岁唐氏综合征患者的可能脑淀粉样血管病相关性脑炎病例报告
Thales Pardini Fagundes,Gustavo Maximiano Alves,Mateus Gustavo Favaro et al.
Thales Pardini Fagundes et al.
Inflammatory cerebral amyloid angiopathy (CAA-RI) is a variant of CAA, rarely seen in young individuals with Down syndrome (DS). We describe a 32-year-old female with DS who developed a systemic inflammatory state followed by acute neurolog...
A novel heterozygous mutation of BCL11B gene causes neurodevelopmental disorder and middle type hypospadias in a Chinese boy with 5 years follow-up [0.03%]
一个新的BCL11B基因杂合突变导致了一名中国男孩的神经发育障碍和中度阴茎异位尿道，长达五年的随访结果
Yawen Liu,Zhen Pan,Jiarui Shi et al.
Yawen Liu et al.
As a crucial transcription factor, BCL11 transcription factor B gene (BCL11B) is expressed in the cell nucleus, and also widely expressed in the nervous and immune systems. Function of BCL11B varied, mutation of BCL11B gene may involve dive...
Case Reports
Neurogenetics. 2026 Feb 10;27(1):13. DOI:10.1007/s10048-026-00880-9 2026
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance [0.03%]
鉴定出一个额外的深度内含子剪接变异体，提示应对SPG7遗传性进行批判性评估
Emma H Gillesse,Miranda Wan,Setareh Ashtiani et al.
Emma H Gillesse et al.
SPG7-related hereditary spastic paraplegia (SPG7-HSP) is one of the most common forms of autosomal recessive HSP. There is a growing number of reports of affected individuals found to be heterozygous carriers for the recurrent pathogenic co...
Case Reports
Neurogenetics. 2026 Feb 9;27(1):12. DOI:10.1007/s10048-026-00882-7 2026