Journal of Shanghai Jiao Tong University (Medical Science) ›› 2022, Vol. 42 ›› Issue (7): 964-970.doi: 10.3969/j.issn.1674-8115.2022.07.018
• Case report • Previous Articles
LIU Taotao1,2(), WU Jingying1, LIU Xiaoli3, ZHANG Mei2, CAO Li1()
Received:
2022-02-28
Accepted:
2022-06-08
Online:
2022-07-25
Published:
2022-07-25
Contact:
CAO Li
E-mail:liutt@rjlab.cn;caoli2000@yeah.net
Supported by:
CLC Number:
LIU Taotao, WU Jingying, LIU Xiaoli, ZHANG Mei, CAO Li. Two cases of leukoencephalopathy with vanishing white matter caused by new mutation of EIF2B gene and literature review[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022, 42(7): 964-970.
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URL: https://xuebao.shsmu.edu.cn/EN/10.3969/j.issn.1674-8115.2022.07.018
Gene | Number of patients (n=62)/n(%) | Male (n=8)/ n | Female (n=54)/ n | First symptom/n | |||
---|---|---|---|---|---|---|---|
Cerebellar ataxia (n=39) | Cognitive decline (n=10) | Premature ovarian failure (n=6) | Others (n=7) | ||||
EIF2B1 | 2 (3.2) | 1 | 1 | 1[ | 1[ | ‒ | ‒ |
EIF2B2 | 5 (8.1) | 0 | 5 | 4[ | 1[ | ‒ | ‒ |
EIF2B3 | 5 (8.1) | 0 | 5 | 2[ | 0 | 2[ | Migraine (n=1)[ |
EIF2B4 | 4 (6.4) | 0 | 4 | 3[ | 1[ | ‒ | ‒ |
EIF2B5 | 46 (74.2) | 7 | 39 | 29[ | 7[ | 4[ | Psychosis (n=4)[ |
Tab 1 Gene, gender and first symptoms of adult VWM patients reported at home and abroad
Gene | Number of patients (n=62)/n(%) | Male (n=8)/ n | Female (n=54)/ n | First symptom/n | |||
---|---|---|---|---|---|---|---|
Cerebellar ataxia (n=39) | Cognitive decline (n=10) | Premature ovarian failure (n=6) | Others (n=7) | ||||
EIF2B1 | 2 (3.2) | 1 | 1 | 1[ | 1[ | ‒ | ‒ |
EIF2B2 | 5 (8.1) | 0 | 5 | 4[ | 1[ | ‒ | ‒ |
EIF2B3 | 5 (8.1) | 0 | 5 | 2[ | 0 | 2[ | Migraine (n=1)[ |
EIF2B4 | 4 (6.4) | 0 | 4 | 3[ | 1[ | ‒ | ‒ |
EIF2B5 | 46 (74.2) | 7 | 39 | 29[ | 7[ | 4[ | Psychosis (n=4)[ |
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