1. Copyright © 2012 American Medical Association. All rights reserved.
From: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP
Arch Neurol. 2012;69(2): doi: /archneurol
Figure Legend:
Figure 1. Pedigrees of 3 families with Alexander disease. Numbers below each symbol indicate the age at onset (o) and the age at most recent report or death (d). Genotypes, where available, are indicated by a plus or minus sign above a symbol. Affected individuals are indicated by filled symbols, and individuals with relevant clinical signs and considered probably affected are indicated by gray shading. A, Siblings and parents of the 2 patients initially reported by Duckett et al (II.c and II.d in this diagram). Birth order has been scrambled to protect confidentiality. B, Four-generation family related to the patients with adult-onset disease originally reported by Seil et al (III.F in this diagram) and Schwankhaus et al (IV.B, IV.D, and IV.F in this diagram), continuing the nomenclature used by Schwankhaus et al. Generations I and II of this original pedigree contained no informative individuals and are not illustrated. C, Two-generation family (not previously described).
Date of download: 10/7/2017
Copyright © 2012 American Medical Association. All rights reserved.

2. Copyright © 2012 American Medical Association. All rights reserved.
From: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP
Arch Neurol. 2012;69(2): doi: /archneurol
Figure Legend:
Figure 2. Magnetic resonance images of 2 affected members of family A. A, Sagittal T1-weighted image of patient II.c, at age 46 years, showing a lesion in the pons (dark arrow) and severe atrophy of the medulla oblongata (white arrow).The cerebellar white matter (arrowhead) has a low signal, which is abnormal. B, Sagittal T1-weighted image after contrast of patient II.d, at age 15 years, showing an enhancing lesion in the dorsal brain stem. Previous magnetic resonance images reported by Duckett et al for this patient indicated a space-occupying mass in the left cerebellar hemisphere and signal changes in the deep cerebellar white matter. Patients II.d and II.f had no significant changes in cerebral white matter.
Date of download: 10/7/2017
Copyright © 2012 American Medical Association. All rights reserved.

3. Copyright © 2012 American Medical Association. All rights reserved.
From: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP
Arch Neurol. 2012;69(2): doi: /archneurol
Figure Legend:
Figure 3. Magnetic resonance images from patient VI.A of family B at age 8.5 years. A, Sagittal T1-weighted image after contrast reveals an enhancing tumorlike lesion in the dorsal part of the medulla and lower pons. B, Axial fluid-attenuated inversion recovery image shows the mass lesion in the medulla in the left posterior part. C, Axial fluid-attenuated inversion recovery image shows signal abnormalities in the frontal white matter (white arrows), head of the caudate nucleus (black arrow), and putamen (arrowhead).
Date of download: 10/7/2017
Copyright © 2012 American Medical Association. All rights reserved.

4. Copyright © 2012 American Medical Association. All rights reserved.
From: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP
Arch Neurol. 2012;69(2): doi: /archneurol
Figure Legend:
Figure 4. Effects of pSer247Pro, p.Asp417Ala, and p.Gln426Leu mutations on filament assembly in transfected SW13vim− cells. Staining with 4',6-diamidino-2-phenylindole in parts A, C, and D indicates the position of nuclei. A, Transfection with the wild-type (wt) GFAP expression vector. A normal filamentous assembly pattern is seen, consisting of a fine network with or without diffuse background in about 90% of cells. B-D, Transfection with vectors expressing p.Ser247Pro (B), p.Asp417Ala (C), or p.GlnP.GLN426LEUeu (D), each producing ringlike filaments on a background of diffuse staining. The inset in panel B shows results for cotransfection with an equal amount of wt GFAP expression vector, demonstrating the dominant effect of the mutation.
Date of download: 10/7/2017
Copyright © 2012 American Medical Association. All rights reserved.