Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy

Author:

Kapferer-Seebacher InesORCID,Waisfisz Quinten,Boesch Sylvia,Bronk Marieke,van Tintelen Peter,Gizewski Elke R.,Groebner Rebekka,Zschocke Johannes,van der Knaap Marjo S.

Funder

Austrian Science Fund

Dutch ZonMw TOP

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Reference26 articles.

1. Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Bjorck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM, Molecular Basis of Periodontal EDSC, Byers PH, Zschocke J (2016) Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement. Am J Hum Genet 99(5):1005–1014. https://doi.org/10.1016/j.ajhg.2016.08.019

2. Lacroix M, Tessier A, Dumestre-Perard C, Vadon-Le Goff S, Gout E, Bruckner-Tuderman L, Kiritsi D, Nystrom A, Ricard-Blum S, Moali C, Hulmes DJS, Thielens NM (2017) Interaction of complement defence collagens C1q and mannose-binding lectin with BMP-1/tolloid-like proteinases. Sci Rep 7(1):16958. https://doi.org/10.1038/s41598-017-17318-w

3. Castori M, Voermans NC (2014) Neurological manifestations of Ehlers-Danlos syndrome(s): a review. Iran J Neurol 13(4):190–208

4. Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F (2000) Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. Arch Neurol 57(1):123–127

5. Ezzeddine H, Sabouraud P, Eschard C, El Tourjuman O, Bednarek N, Motte J (2005) Bilateral frontal polymicrogyria and Ehlers-Danlos syndrome. Arch Pediatr 12(2):173–175. https://doi.org/10.1016/j.arcped.2004.11.021

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