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Leukodystrophy

Known as: Leukodystrophies, leucodystrophies, leucodystrophy 
A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in… 
National Institutes of Health

Related topics

Related topics

26 relations
2,4-Dienoyl-CoA Reductase DeficiencyAICARDI-GOUTIERES SYNDROME 4Alexander DiseaseCEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)

Narrower (9)

AdrenoleukodystrophyCanavan DiseaseDiffuse Cerebral Sclerosis of SchilderGloboid cell leukodystrophy

Broader (1)

Cerebral degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Calcium dysregulation and homeostasis of neural calcium in the molecular mechanisms of neurodegenerative diseases provide multiple targets for neuroprotection.
The intracellular free calcium concentration subserves complex signaling roles in brain. Calcium cations (Ca(2+)) regulate… 
Review
2010
Review
2010
Metachromatic leukodystrophy--an update.
Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase A… 
Review
2007
Review
2007
N-Acetylaspartate in the CNS: From neurodiagnostics to neurobiology
Highly Cited
2007
Highly Cited
2007
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In… 
Highly Cited
2006
Highly Cited
2006
Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice.
Metachromatic leukodystrophy (MLD) is a demyelinating lysosomal storage disorder for which new treatments are urgently needed. We… 
Highly Cited
2004
Highly Cited
2004
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells.
Gene-based delivery can establish a sustained supply of therapeutic proteins within the nervous system. For diseases… 
Review
2003
Review
2003
Axonal damage: a key predictor of outcome in human CNS diseases.
Axonal damage has recently been recognized to be a key predictor of outcome in a number of diverse human CNS diseases, including… 
Highly Cited
2002
Highly Cited
2002
Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)
Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal… 
Highly Cited
1999
Highly Cited
1999
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy 
Review
1995
Review
1995
Cortical maldevelopment, anti-psychotic drugs, and schizophrenia: a search for common ground
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