Mao Mukai,Ikuko Mizuta,Tomoyuki Ohara et al.
Mao Mukai et al.
CADASIL, a hereditary cerebral small vessel disease, is caused by mutations in the NOTCH3 gene. We analyzed 908 patients whose genetic testing was performed at Kyoto Prefectural University of Medicine (KPUM) from 1999 to March 2024, focusin...
[A family with nonsynonymous mutations of filamin C actin-binding domain] [0.03%]
肢带型进行性肌营养不良家系的交叉小体蛋白C亚单位变异 fscanf("%s%f%",&a,&b) while(b
Mikio Hirayama,Kazunori Imai,Fumitada Yamasita et al.
Mikio Hirayama et al.
We report a sibling case of progressive muscle weakness beginning in their 40s. The younger brother was initially suspected to have spinal muscular atrophy based on electromyography findings, but no SMN1 gene deletion was identified. Whole-...
[Macro vitamin B12: a potential pitfall in the determination of serum vitamin B12 concentrations] [0.03%]
[宏量维生素B12在血清维生素B12浓度测定中的潜在干扰]
Kazuaki Hirakata,Yoshito Ishii,Tamaki Yoshida et al.
Kazuaki Hirakata et al.
[A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype] [0.03%]
[Krabbe病成人型1例并以不典型临床表型就诊以及基因突变分析确诊]
Yuta Honkawa,Shiori Kuwagaki,Hitoshi Hayashida et al.
Yuta Honkawa et al.
Adult-onset Krabbe disease is a rare neurodegenerative disorder caused by mutations in the galactocerebrosidase (GALC) gene. It typically presents with slowly progressive central nervous system involvement, primarily characterized by pyrami...
Ren Yanagida,Chieko Suzuki,Hiroki Yoshida et al.
Ren Yanagida et al.
A 69-year-old man developed generalized muscle spasms 9 days after undergoing surgery for a strangulated intestinal obstruction. He subsequently experienced respiratory failure and required mechanical ventilation in the intensive care unit....
[Falls related to faciobrachio-crural dystonic seizures in a case of leucine-rich glioma-inactivated 1 antibody-positive encephalitis] [0.03%]
视杆肌阵挛性癫痫伴跌倒发作1例及相关文献复习(LGI1抗体阳性边缘叶脑炎)
Haruka Ouchi,Satsuki Nakajima,Eisuke Hirai et al.
Haruka Ouchi et al.
Faciobrachial dystonic seizures are pathognomonic for leucine-rich glioma-inactivated 1 (LGI1) antibody-positive encephalitis, and can present as a faciobrachio-crural dystonic seizure (FBCDS) phenotype when the lower extremities are involv...
[A case of neuronal intranuclear inclusion disease diagnosed 19 years after onset through clinical re-evaluation] [0.03%]
[一例发病19年后通过临床重新评价诊断的神经元细胞内包涵体病]
Akiko Nagaishi,Ken Yamamoto,Nobutaka Hayashi et al.
Akiko Nagaishi et al.
We report a case of a woman diagnosed with neuronal intranuclear inclusion disease (NIID) 19 years after onset. The patient was 54 years old at onset and 73 years old at diagnosis. Various neurological symptoms, including hemianopia, ataxia...