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- W2884642502 abstract "A 28-year-old woman, who was considered to have Alexander disease (AxD) at 14 months of age, presented with bulbospinocerebellar symptoms from the age of 22 years. Brain MRI showed frontal white matter abnormality with contrast enhancement (figure 1) suggesting type I AxD,1 and atrophy in medulla oblongata and cervical cord as well as pial fluid-attenuated inversion recovery hyperintensities in brainstem (figure 2) suggesting type II.1 GFAP sequencing revealed a heterozygous p.Arg88Cys mutation." @default.
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- W2884642502 date "2018-07-23" @default.
- W2884642502 modified "2023-10-18" @default.
- W2884642502 title "Teaching NeuroImages: Alexander disease with features of both frontal and bulbospinal involvement" @default.
- W2884642502 cites W1976410432 @default.
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- W2884642502 doi "https://doi.org/10.1212/wnl.0000000000005858" @default.
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