التفاصيل البيبلوغرافية
| العنوان: |
Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration |
| المؤلفون: |
Rezazadeh, Arezoo, Bercovici, Eduard, Kiehl, Tim‐Rasmus, Chow, Eva W., Krings, Timo, Bassett, Anne S., Andrade, Danielle M. |
| المساهمون: |
Ontario Brain Institute |
| المصدر: |
Annals of Clinical and Translational Neurology ; volume 5, issue 11, page 1314-1322 ; ISSN 2328-9503 2328-9503 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2018 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
Objective We aimed to delineate the distribution of periventricular nodular heterotopia ( PNH ) in patients with 22q11.2 microdeletion syndrome (22q11.2 DS ) and place this in the context of other genetic forms of PNH . Methods We retrospectively analyzed brain imaging and postmortem data available for adult patients with 22q11.2 DS . We included only those with good quality MRI data ( n = 29) in addition to two patients with PNH identified through postmortem studies. We also reviewed the pattern of PNH in all genetic conditions reported with this phenotype. Results Of the total seven patients (M = 4, F = 3; age: 19–61 years) identified to have PNH , six had a history of seizures, six had schizophrenia, six had variable levels of intellectual disability, and two had obsessive compulsive disorder. In all seven patients, the nodules were located over the dorsal pole of the frontal horn of the lateral ventricles. The nodules were small, noncontiguous, and ranged in number from 1 to 10 per individual. Our review identified 37 genetic conditions associated with PNH . With the cases reported here, 22q11.2 DS becomes the fifth most commonly reported genetic condition, and the third most common copy number variation, associated with PNH . Interpretation The neuropsychiatric manifestations in our patients with PNH support other data indicating abnormal neurodevelopment as part of the pathogenesis of 22q11.2 DS .The location and cellular characteristics of PNH in 22q11.2 DS overlaps with a group of migrating postnatal interneurons termed Arc cells, although more research is needed to confirm that PNH in 22q11.2 DS represents Arc cells arrested in their migratory pathway. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1002/acn3.641 |
| الإتاحة: |
https://doi.org/10.1002/acn3.641Test |
| حقوق: |
http://creativecommons.org/licenses/by-nc-nd/4.0Test/ |
| رقم الانضمام: |
edsbas.B634C4F8 |
| قاعدة البيانات: |
BASE |
