scholarly journals Neuronal inclusions of α-synuclein contribute to the pathogenesis of Krabbe disease

2014 ◽  
Vol 232 (5) ◽  
pp. 509-521 ◽  
Author(s):  
Benjamin R Smith ◽  
Marta B Santos ◽  
Michael S Marshall ◽  
Ludovico Cantuti-Castelvetri ◽  
Aurora Lopez-Rosas ◽  
...  
Keyword(s):  
Krabbe Disease ◽  
Neuronal Inclusions

Hematopoietic Stem Cell Transplantation for Late-Onset Krabbe Disease

2015 ◽  
Vol 46 (S 01) ◽  
Author(s):  
A. Bley ◽  
U. Löbel ◽  
M. Nickel ◽  
A. Ohlenbusch ◽  
J. Denecke ◽  
...  
Keyword(s):  
Stem Cell ◽  
Hematopoietic Stem Cell Transplantation ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Hematopoietic Stem Cell ◽  
Late Onset ◽  
Krabbe Disease ◽  
Hematopoietic Stem

MR imaging and single proton spectroscopy in siblings with late onset krabbe disease

2008 ◽  
Vol 39 (01) ◽  
Author(s):  
U Gruber-Sedlmayr ◽  
M Brunner-Krainz ◽  
E Sorantin ◽  
W Sauseng ◽  
B Plecko
Keyword(s):  
Mr Imaging ◽  
Late Onset ◽  
Krabbe Disease ◽  
Proton Spectroscopy ◽  
Single Proton

scholarly journals Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

2021 ◽  
Author(s):  
Robert Thompson-Stone ◽  
Margie A. Ream ◽  
Michael Gelb ◽  
Dietrich Matern ◽  
Joseph J. Orsini ◽  
...  
Keyword(s):  
Krabbe Disease ◽  
Consensus Recommendations ◽  
Long Term Follow Up

scholarly journals Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

2021 ◽  
Vol 7 (2) ◽  
pp. 28
Author(s):  
Camille S. Corre ◽  
Dietrich Matern ◽  
Joan E. Pellegrino ◽  
Carlos A. Saavedra-Matiz ◽  
Joseph J. Orsini ◽  
...  
Keyword(s):  
New York ◽  
Enzyme Activity ◽  
Clinical Presentation ◽  
Neurodegenerative Disorder ◽  
New York State ◽  
Disease Onset ◽  
Early Infancy ◽  
Krabbe Disease ◽  
Activity Levels ◽  
Hematopoietic Stem

Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later in life. Newborn screening (NBS) for KD requires identification and risk-stratification of patients based on laboratory values to predict disease onset in early infancy or later in life. The biomarker psychosine plays a key role in NBS algorithms to ascertain probability of early-onset disease. This report describes a patient who was screened positive for KD in New York State, had a likely pathogenic genotype, and showed markedly reduced enzyme activity but surprisingly low psychosine levels. The patient ultimately developed KD in late infancy, an outcome not clearly predicted by existing NBS algorithms. It remains critical that psychosine levels be evaluated alongside genotype, enzyme activity levels, and the patient’s evolving clinical presentation, ideally in consultation with experts in KD, in order to guide diagnosis and plans for monitoring.

scholarly journals Impact of Fatty Acid-Binding Proteins in α-Synuclein-Induced Mitochondrial Injury in Synucleinopathy

Biomedicines ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 560
Author(s):  
An Cheng ◽  
Wenbin Jia ◽  
Ichiro Kawahata ◽  
Kohji Fukunaga
Keyword(s):  
Fatty Acid ◽  
Binding Proteins ◽  
Neuronal Loss ◽  
Krabbe Disease ◽  
Fatty Acid Binding Proteins ◽  
Mitochondrial Outer Membrane ◽  
Fatty Acid Binding ◽  
Mitochondrial Injury ◽  
Abnormal Accumulation ◽  
The Brain

Synucleinopathies are diverse diseases with motor and cognitive dysfunction due to progressive neuronal loss or demyelination, due to oligodendrocyte loss in the brain. While the etiology of neurodegenerative disorders (NDDs) is likely multifactorial, mitochondrial injury is one of the most vital factors in neuronal loss and oligodendrocyte dysfunction, especially in Parkinson’s disease, dementia with Lewy body, multiple system atrophy, and Krabbe disease. In recent years, the abnormal accumulation of highly neurotoxic α-synuclein in the mitochondrial membrane, which leads to mitochondrial dysfunction, was well studied. Furthermore, fatty acid-binding proteins (FABPs), which are members of a superfamily and are essential in fatty acid trafficking, were reported to trigger α-synuclein oligomerization in neurons and glial cells and to target the mitochondrial outer membrane, thereby causing mitochondrial loss. Here, we provide an updated overview of recent findings on FABP and α-synuclein interactions and mitochondrial injury in NDDs.

scholarly journals Persistence of psychosine in brain lipid rafts is a limiting factor in the therapeutic recovery of a mouse model for Krabbe disease

2010 ◽  
Vol 89 (3) ◽  
pp. 352-364 ◽  
Author(s):  
A.B. White ◽  
F. Galbiati ◽  
M.I. Givogri ◽  
A. Lopez Rosas ◽  
X. Qiu ◽  
...  
Keyword(s):  
Mouse Model ◽  
Lipid Rafts ◽  
Krabbe Disease ◽  
Limiting Factor ◽  
Brain Lipid
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