scholarly journals Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms

eLife ◽  
2017 ◽  
Vol 6 ◽  
Author(s):  
Parthiv Haldipur ◽  
Derek Dang ◽  
Kimberly A Aldinger ◽  
Olivia K Janson ◽  
Fabien Guimiot ◽  
...  

FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation. Previously, we found that complete Foxc1 loss leads to aberrations in proliferation, neuronal differentiation and migration in the embryonic mouse cerebellum (<xref ref-type="bibr" rid="bib9">Haldipur et al., 2014</xref>). We now demonstrate that hypomorphic Foxc1 mutant mice have granule and Purkinje cell abnormalities causing subsequent disruptions in postnatal cerebellar foliation and lamination. Particularly striking is the presence of a partially formed posterior lobule which echoes the posterior vermis DW 'tail sign' observed in human imaging studies. Lineage tracing experiments in Foxc1 mutant mouse cerebella indicate that aberrant migration of granule cell progenitors destined to form the posterior-most lobule causes this unique phenotype. Analyses of rare human del chr 6p25 fetal cerebella demonstrate extensive phenotypic overlap with our Foxc1 mutant mouse models, validating our DWM models and demonstrating that many key mechanisms controlling cerebellar development are likely conserved between mouse and human.

2005 ◽  
Vol 26 (1) ◽  
pp. 37-43 ◽  
Author(s):  
Li´lia Maria de Azevedo Moreira ◽  
Fa´tima Bittencourt Neri ◽  
Sheila de Quadros Uzeˆda ◽  
Aca´cia Fernandes Lacerda de Carvalho ◽  
Gustavo Costa Santana ◽  
...  

Neurogenetics ◽  
2011 ◽  
Vol 12 (3) ◽  
pp. 241-245 ◽  
Author(s):  
Ginevra Zanni ◽  
Sabina Barresi ◽  
Lorena Travaglini ◽  
Laura Bernardini ◽  
Teresa Rizza ◽  
...  

2009 ◽  
Vol 41 (9) ◽  
pp. 1037-1042 ◽  
Author(s):  
Kimberly A Aldinger ◽  
Ordan J Lehmann ◽  
Louanne Hudgins ◽  
Victor V Chizhikov ◽  
Alexander G Bassuk ◽  
...  

2011 ◽  
Vol 26 (12) ◽  
pp. 1483-1492 ◽  
Author(s):  
Catherine Garel ◽  
Catherine Fallet-Bianco ◽  
Laurent Guibaud

The cerebellum undergoes a protracted development, making it particularly vulnerable to a broad spectrum of developmental events. Acquired destructive and hemorrhagic insults may also occur. The main steps of cerebellar development are reviewed. The normal imaging patterns of the cerebellum in prenatal ultrasound and magnetic resonance imaging (MRI) are described with emphasis on the limitations of these modalities. Because of confusion in the literature regarding the terminology used for cerebellar malformations, some terms (agenesis, hypoplasia, dysplasia, and atrophy) are clarified. Three main pathologic settings are considered and the main diagnoses that can be suggested are described: retrocerebellar fluid enlargement with normal or abnormal biometry (Dandy-Walker malformation, Blake pouch cyst, vermian agenesis), partially or globally decreased cerebellar biometry (cerebellar hypoplasia, agenesis, rhombencephalosynapsis, ischemic and/or hemorrhagic damage), partially or globally abnormal cerebellar echogenicity (ischemic and/or hemorrhagic damage, cerebellar dysplasia, capillary telangiectasia). The appropriate timing for performing MRI is also discussed.


Author(s):  
Matthew T. Whitehead ◽  
Gilbert Vezina ◽  
Sarah D. Schlatterer ◽  
Sarah B. Mulkey ◽  
Adre J. du Plessis

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