Article Figures & Data
Figures
- Figure 1 Clinical Characterization of a Blended Phenotype of Silver-Russell Syndrome and SPG50
(A) Facial features consist of a high forehead, frontal bossing, flat and prominent nasal bridge, epicanthal folds, micrognathia, and a tented upper lip. (B) Brain MRI at age 3 years: (Left) Sagittal T1-weighted image showing a thin corpus callosum with predominant thinning of the splenium (white arrows). (Right) Axial T2-weighted image showing ventriculomegaly mainly in the form of colpocephaly (white arrows) due to loss of periventricular white matter.
- Figure 2 Functional Characterization Reveals Loss of AP-4 Function
(A) Western blot of whole cell lysates from fibroblasts derived from the proband and her mother (heterozygous carrier). Levels of AP4E1, a subunit of the AP-4 complex, are reduced, indicating that no stable AP-4 is formed. ATG9A, a main cargo protein of AP-4, is robustly increased consistent with AP-4 deficiency. (B) Immunocytochemistry and high-content confocal imaging of fibroblasts derived from the proband and her mother (heterozygous carrier) demonstrate an accumulation of the AP-4 cargo protein ATG9A in the trans-Golgi network (marker: TGN46) suggesting a loss of AP-4 function. Line blots demonstrate the colocalization of ATG9A fluorescence with the trans-Golgi network marker TGN46. Scale bar: 10 μm. p Values are denoted as follows: p < 0.05 (∗) and p < 0.0001 (∗∗∗∗). AP4E1 = Adaptor Related Protein Complex 4 Subunit Epsilon 1; ATG9A = Autophagy Related Protein 9A; AU = arbitrary units; TGN = trans-Golgi network.
Tables
Letters: Rapid online correspondence
REQUIREMENTS
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
