Article Figures & Data
Figures
- Figure 1 Pedigree of family 1 and mutations in CNTNAP1
(A) Pedigree of family 1 branches A–C with multiple consanguineous loops and segregation of the CNTNAP1 variant. The identified variant (position indicated by red arrow) segregated with the disease in all affected patients. (B) Schematic representation of known and new mutations in CNTNAP1: previously described mutations are depicted in black, and new disease-causing mutations are indicated in red. The missense variant p.(Arg764Cys) has been found in a compound heterozygous state together with p.(Gln671*). All other variants were homozygous in affected patients. Blue: extracellular domain; red: helical domain (transmembrane); green: cytoplasmic domain (intracellular) (information of domains from uniprot.org).
- Figure 2 Phenotypic features of CNTNAP1 patients
(A–C) Patient 1 with arthrogryposis multiplex congenita (AMC). (A) Contractures of the feet, (B) features including microcephaly, micrognathia, low-set ears, and cachexia, and (C) contractures of the hand and fingers. (D, E) Patient 3 without AMC but with microcephaly, low-set ears, and hypotonia. (F–H) Patient 4 without AMC. (F) No signs of contractures of the fingers, (G) hypotonia, and (H) midline notch upper gum.
- Figure 3 MRIs of CNTNAP1 patients and controls
(A) T2-weighted image of healthy 8-day-old child. Signs of beginning myelination within the posterior limb of the inner capsule (PLIC; hypointense signal within the white circle). (B) T2-weighted image of healthy 36-month-old child. Myelination is complete, resulting in hypointense signals of white matter, inner capsule, and corpus callosum. (C) T2-weighted image of patient 4 taken at 4 days of age. No signs of myelination in the PLIC (white circle). No signs of obvious cortex malformation. (E) Sagittal T1 image of patient 4 at 4 days of age indicates normal cerebral, cerebellar, and pontine volume. Small mega cisterna magna is depicted by a white arrow. (D, F, G) T2-weighted images of patient 1 at 5 years of age. (D, G) White matter is hyperintense without signs of myelination; even early myelinating structures are hyperintense without myelin deposits (circle). Cerebral atrophy (white arrow) with pronounced lack of white matter (white star). (F) Midsagittal images show thin corpus callosum (white arrow), mega cisterna magna (white arrow), reduced pontine volume, and cerebellar atrophy.
- Figure 4 Electron microscopy of sural nerves comparing patient 4 and with a healthy control
(A, B) Electron microscopy of sural nerve of patient 4. (A) Transverse section. Severe rarefaction of myelinated fibers; many have a too thin myelin sheath (arrows). (B) Longitudinal section. Abnormal widening of the node of Ranvier. The myelin loops are dissociated by the fingers of Schwann cell cytoplasm (arrows), which penetrate between the loops and the axon. (C, D) Age-matched control images. (C) Transverse section. Normal axonal density. (D) Longitudinal section. Normal node of Ranvier; the loops are closely attached to the axon.
Tables
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
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.
