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Comment
. 2011 Mar 11;88(3):392-3; author reply 393-5.
doi: 10.1016/j.ajhg.2010.12.015.

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD

Odile Boespflug-Tanguy, Patrick Aubourg, Imen Dorboz, Mélina Bégou, Geneviève Giraud, Catherine Sarret, Catherine Vaurs-Barrière
Comment

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD

Odile Boespflug-Tanguy et al. Am J Hum Genet. .
No abstract available

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Figures

Figure 1
Figure 1
Magnetic Resonance Imaging of White Matter Changes in Hypomyelinating Leukodystrophies (A–D) In a normal brain (A), when the myelination is achieved, the white matter signal is hyperintense relative to gray matter on T1-weighted images and hypointense relative to gray matter on T2-weighted and FLAIR images. In patients affected by hypomyelinating leukodystrophies, T1 white matter signal is hypointense relative to gray matter in severe form 0 related to proteolipid potein 1 (PLP1 [MIM 300401]) mutation (patient B, 2 years old), isointense in moderate form 3 related to PLP1 duplication (patient C, 7 years old), and normally hyperintense in mild form 4 related to gap junction protein gamma-2 (GJC2 [MIM 608803]) mutation (patient D, 20 years old). In patients B and C, the white matter signal on T2-weighted and FLAIR images appears hyperintense relative to gray matter. In patient D, the white matter tends to be isointense relative to gray matter on T2-weighted images, except in posterior internal capsules, and is hyperintense in FLAIR images.
See this image and copyright information in PMC

Comment on

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