A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]
, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna +6 more
core +2 more sources
Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction
Annals of Clinical and Translational Neurology, 2020 In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration.
N. Wolf +15 more
semanticscholar +1 more source
A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum
Brain Sciences, 2023 POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders.
Vito Luigi Colona +7 more
doaj +1 more source
Bone marrow transplantation alters the tremor phenotype in the murine model of globoid-cell leukodystrophy [PDF]
, 2012 Tremor is a prominent phenotype of the twitcher mouse, an authentic genetic model of Globoid-Cell Leukodystrophy (GLD, Krabbe’s disease). In the current study, the tremor was quantified using a force-plate actometer designed to accommodate low-weight ...
Dearborn, Joshua T +5 more
core +4 more sources
Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy
Annals of Clinical and Translational Neurology, 2020 Objective To explore the potential of neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) as biomarkers of spinal cord degeneration in adrenoleukodystrophy, as objective treatment‐outcome parameters are needed.
Wouter J. C. vanBallegoij +6 more
doaj +1 more source
Emerging cellular themes in leukodystrophies
Frontiers in Cell and Developmental Biology, 2022 Leukodystrophies are a broad spectrum of neurological disorders that are characterized primarily by deficiencies in myelin formation. Clinical manifestations of leukodystrophies usually appear during childhood and common symptoms include lack of motor ...
Joseph C. Nowacki +2 more
doaj +1 more source
AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease) [PDF]
Human Gene Therapy, 2018 Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase.
et al,, Jiang, Xuntain, Ory, Daniel S
core +3 more sources
Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]
, 2019 The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F. +4 more
core +1 more source
Frontiers in Genetics, 2021 Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic.
Irene Sargiannidou +7 more
doaj +1 more source
TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders [PDF]
, 2008 Aicardi-Goutieres syndrome (AGS) is an unusual condition that clinically mimics a congenital viral infection. Several genes have recently been implicated in the aetiology of this disorder. One of these genes encodes the DNA exonuclease TREX1. Recent work
Aicardi +54 more
core +1 more source