scholarly journals Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

2008 ◽  
Vol 29 (2) ◽  
pp. 301-305 ◽  
Author(s):  
A. Rossi ◽  
R. Biancheri ◽  
F. Zara ◽  
C. Bruno ◽  
G. Uziel ◽  
...  
Keyword(s):  
White Matter ◽  
Congenital Cataract ◽  
White Matter Disorder

A NOVEL WHITE MATTER DISORDER WITH CEREBRAL HYPOMYELINATION AND CONGENITAL CATARACT

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
R Biancheri ◽  
F Zara ◽  
A Rossi ◽  
C Bruno ◽  
L Bordo ◽  
...  
Keyword(s):  
White Matter ◽  
Congenital Cataract ◽  
White Matter Disorder

scholarly journals Child Neurology: Krabbe disease: A potentially treatable white matter disorder

Neurology ◽  
2012 ◽  
Vol 79 (19) ◽  
pp. e170-e172 ◽  
Author(s):  
J. Gelinas ◽  
P. Liao ◽  
A. Lehman ◽  
S. Stockler ◽  
S. Sirrs
Keyword(s):  
White Matter ◽  
Krabbe Disease ◽  
Child Neurology ◽  
White Matter Disorder

Kicking coordination captures differences between full-term and premature infants with white matter disorder

2004 ◽  
Vol 22 (6) ◽  
pp. 729-748 ◽  
Author(s):  
Linda Fetters ◽  
Yu-ping Chen ◽  
Johanna Jonsdottir ◽  
Edward Z Tronick
Keyword(s):  
White Matter ◽  
Premature Infants ◽  
Full Term ◽  
White Matter Disorder

scholarly journals ACTA2 leukovasculopathy: A rare pediatric white matter disorder

2020 ◽  
Vol 15 (8) ◽  
pp. 1285-1288
Author(s):  
Tonia M. Sabo ◽  
Mathew A. Stokes ◽  
Nishika Karbhari ◽  
Daniel L. Veltkamp ◽  
Cory M. Pfeifer
Keyword(s):  
White Matter ◽  
White Matter Disorder

scholarly journals Failure to clear developmental apoptosis contributes to the pathology of RNASET2-deficient leukoencephalopathy

2019 ◽  
Author(s):  
Noémie Hamilton ◽  
Holly A. Rutherford ◽  
Hannah M. Isles ◽  
Jessica J. Petts ◽  
Thomas Weber ◽  
...  
Keyword(s):  
Immune Response ◽  
White Matter ◽  
Neurological Disorders ◽  
Preclinical Model ◽  
First Year ◽  
Zebrafish Model ◽  
Brain Infection ◽  
White Matter Disorder ◽  
Embryonic Origin ◽  
First Year Of Life

SummaryThe contribution of microglia in neurological disorders is emerging as a leading driver rather than a consequence of pathology. RNAseT2-deficient leukoencephalopathy is a severe childhood white matter disorder affecting patients in their first year of life and mimics a cytomegalovirus brain infection. The early onset and resemblance of the symptoms to an immune response suggest an inflammatory and embryonic origin of the pathology. In this study, we identify deficient microglia as an early marker of pathology. Using the ex utero development and the optical transparency of an rnaset2-deficient zebrafish model, we found that dysfunctional microglia fail to clear apoptotic neurons during brain development. This was associated with increased number of apoptotic cells and behavioural defects lasting into adulthood. This zebrafish model recapitulates all aspect of the human disease to be used as a robust preclinical model. Using microglia-specific depletion and rescue experiments, we identified microglia as potential drivers of the pathology and highlight tissue-specific approaches as future therapeutic avenues.

Spontaneous kicking in full-term and preterm infants with and without white matter disorder

2010 ◽  
Vol 52 (6) ◽  
pp. 524-536 ◽  
Author(s):  
Linda Fetters ◽  
Inbal Sapir ◽  
Yu-ping Chen ◽  
Masayoshi Kubo ◽  
Ed Tronick
Keyword(s):  
White Matter ◽  
Preterm Infants ◽  
Full Term ◽  
White Matter Disorder

Canavan disease: A white matter disorder

2006 ◽  
Vol 12 (2) ◽  
pp. 157-165 ◽  
Author(s):  
Shalini Kumar ◽  
Natalia S. Mattan ◽  
Jean de Vellis
Keyword(s):  
White Matter ◽  
Canavan Disease ◽  
White Matter Disorder
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