Buchumschlag

Common neuroimaging findings in Bosch-Boonstra-Schaaf optic atrophy syndrome

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual impairment secondary to optic nerve hypoplasia and/or atrophy, developmental and cognitive delay, and seizures. This study reports common ne...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Desai, Nilesh (VerfasserIn) , Kralik, S. F. (VerfasserIn) , Edmond, J. C. (VerfasserIn) , Shah, V. (VerfasserIn) , Huisman, T. a. G. M. (VerfasserIn) , Rech, M. (VerfasserIn) , Schaaf, Christian P. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: February 1, 2023.
In: American journal of neuroradiology
Year: 2023, Jahrgang: 44, Heft: 2, Pages: 212-217
ISSN:1936-959X
DOI:10.3174/ajnr.A7758
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.3174/ajnr.A7758
Verlag, lizenzpflichtig, Volltext: https://www.ajnr.org/content/44/2/212
Volltext
Verfasserangaben:N.K. Desai, S.F. Kralik, J.C. Edmond, V. Shah, T.a.G.M. Huisman, M. Rech, and C.P. Schaaf
Beschreibung
Zusammenfassung:Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant syndrome secondary to mutations in NR2F1 (COUP-TF1), characterized by visual impairment secondary to optic nerve hypoplasia and/or atrophy, developmental and cognitive delay, and seizures. This study reports common neuroimaging findings in a cohort of 21 individuals with BBSOAS that collectively suggest the diagnosis. These include mesial temporal dysgyria, perisylvian dysgyria, posterior predominant white matter volume loss, callosal abnormalities, lacrimal gland abnormalities, and optic nerve volume loss.
Beschreibung:Gesehen am 16.11.2023
Beschreibung:Online Resource
ISSN:1936-959X
DOI:10.3174/ajnr.A7758

Ähnliche Einträge