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

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

Juvenile Canavan Disease: A Leukodystrophy without White Matter Changes

2018 ◽  
Vol 49 (06) ◽  
pp. 420-421
Author(s):  
Prashant Jauhari ◽  
Lokesh Saini ◽  
Biswaroop Chakrabarty ◽  
Atin Kumar ◽  
Sheffali Gulati
Keyword(s):  
White Matter ◽  
Canavan Disease ◽  
White Matter Changes

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

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

Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene

2021 ◽  
Author(s):  
Maya Dattatraya Bhat ◽  
Netravathi Manjunath ◽  
Renu Kumari ◽  
Mohammed Faruq ◽  
Pramod Kumar Pal ◽  
...  
Keyword(s):  
White Matter ◽  
Canavan Disease ◽  
Severe Form ◽  
Resonance Imaging ◽  
Centrum Semiovale ◽  
Novel Mutations ◽  
Rare Finding ◽  
Magnetic Resonance Imaging Mri ◽  
Intramyelinic Vacuoles ◽  
The Brain

AbstractCribriform appearance of the brain in Canavan disease is a rare finding. The two presented cases broaden the magnetic resonance imaging (MRI) phenotype wherein numerous oval, cystic structures, a few resembling dilated Virchow-Robin (VR) spaces, were noted in the centrum semiovale, periventricular, and lobar white matter producing a cribriform pattern. Besides, discrete round to oval cysts were present at the gray–white matter junctions in the second case, which were larger and appeared morphologically distinct from the VR spaces. These cysts did not elongate in any plane on imaging and were more representative of giant intramyelinic vacuoles. Genetic analysis revealed novel mutations in the aspartoacylase or ASPA gene that possibly accounts for the severe form of Canavan disease, which probably explains the imaging findings. The multicystic appearance of the white matter in Canavan disease is unusual and possibly represents two different histopathological substrates.

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.

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