Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation.
Department of Neurology, Peking Union Medical College Hospital, No. 1, Shuaifu Yard, Dongdan District, Beijing, 100730, China.
Nan
N
Lin
Department of Neurology, Peking Union Medical College Hospital, No. 1, Shuaifu Yard, Dongdan District, Beijing, 100730, China.
Nan
N
Jiang
Department of Neurology, Peking Union Medical College Hospital, No. 1, Shuaifu Yard, Dongdan District, Beijing, 100730, China.
Yi
Y
Dai
Department of Neurology, Peking Union Medical College Hospital, No. 1, Shuaifu Yard, Dongdan District, Beijing, 100730, China.
Jing
J
Gao
Department of Neurology, Peking Union Medical College Hospital, No. 1, Shuaifu Yard, Dongdan District, Beijing, 100730, China. wanglin1391069@163.com.
Lin
L
Wang
D000328:Adult; D006712:Homocystinuria / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency* / Q000235:genetics*; D009128:Muscle Spasticity / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010264:Paraplegia / Q000150:complications* / Q000000981:diagnostic imaging; D011618:Psychotic Disorders / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology
D042965:Methylenetetrahydrofolate Reductase (NADPH2)