History, genetic, and recent advances on Krabbe disease
ACE Graziano, V Cardile - Gene, 2015 - Elsevier
Krabbe disease or globoid cell leukodystrophy is one of the classic genetic lysosomal
storage diseases with autosomal recessive inheritance that affects both central and …
storage diseases with autosomal recessive inheritance that affects both central and …
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy …
W Krivit, C Peters, EG Shapiro - Current opinion in neurology, 1999 - journals.lww.com
Over 400 patients with lysosomal and peroxisomal storage diseases have received
hematopoietic stem cell transplantation from normal donors. Without treatment, all of these …
hematopoietic stem cell transplantation from normal donors. Without treatment, all of these …
Newborn screening for Krabbe disease: the New York State model
PK Duffner, M Caggana, JJ Orsini, DA Wenger… - Pediatric …, 2009 - Elsevier
Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral
nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent …
nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent …
Leukodystrophy in children: a pictorial review of MR imaging features
Dysmyelinating diseases, or leukodystrophies, encompass a wide spectrum of inherited
neurodegenerative disorders affecting the integrity of myelin in the brain and peripheral …
neurodegenerative disorders affecting the integrity of myelin in the brain and peripheral …
[HTML][HTML] Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions
K Muthusamy, A Sivadasan, L Dixon… - Frontiers in …, 2023 - frontiersin.org
Adult-onset leukodystrophies though individually rare are not uncommon. This group
includes several disorders with isolated adult presentations, as well as several childhood …
includes several disorders with isolated adult presentations, as well as several childhood …
Imaging of white matter lesions
F Barkhof, P Scheltens - Cerebrovascular diseases, 2002 - karger.com
Magnetic resonance imaging (MRI) is very sensitive for the detection of white matter lesions
(WML), which occur even in normal ageing. Intrinsic WML should be separated from …
(WML), which occur even in normal ageing. Intrinsic WML should be separated from …
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a devastating
demyelinating disease for which novel therapies are being tested. We hypothesized that MR …
demyelinating disease for which novel therapies are being tested. We hypothesized that MR …
[HTML][HTML] Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy
HR Martin, MD Poe, JM Provenzale, J Kurtzberg… - Biology of Blood and …, 2013 - Elsevier
Metachromatic leukodystrophy (MLD) is an inherited demyelinating disease that causes
progressive neurologic deterioration, leading to severe motor disability, developmental …
progressive neurologic deterioration, leading to severe motor disability, developmental …
[HTML][HTML] Ceramide signalling in inherited and multifactorial brain metabolic diseases
In recent years, research on sphingolipids, particularly ceramides, has attracted increased
attention, revealing the important roles and many functions of these molecules in several …
attention, revealing the important roles and many functions of these molecules in several …
MRI characteristics and scoring in HDLS due to CSF1R gene mutations
C Sundal, JA Van Gerpen, AM Nicholson, C Wider… - Neurology, 2012 - AAN Enterprises
Objective: To describe the brain MRI characteristics of hereditary diffuse
leukoencephalopathy with spheroids (HDLS) with known mutations in the colony-stimulating …
leukoencephalopathy with spheroids (HDLS) with known mutations in the colony-stimulating …