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   Articles with "leukodystrophy" as a keyword



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Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

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recommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.50975

Abstract: 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. This is the first study to… read more here.

Keywords: metachromatic leukodystrophy; transplantation remyelination; leukodystrophy transplantation; leukodystrophy ... See more keywords
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Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.

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recommendations! Published in 2023 at "Annals of clinical and translational neurology"

DOI: 10.1002/acn3.51796

Abstract: OBJECTIVE Metachromatic leukodystrophy is a lysosomal storage disease caused by deficient arylsulfatase A. It is characterized by progressive demyelination and thus mainly affects the white matter. Hematopoietic stem cell transplantation may stabilize and improve white… read more here.

Keywords: matter; stem cell; metachromatic leukodystrophy; transplantation ... See more keywords

Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature

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recommendations! Published in 2022 at "Journal of Ultrasound"

DOI: 10.1007/s40477-022-00667-2

Abstract: Canavan disease (CD; MIM 271,900) or spongy degeneration of the central nervous system (CNS) is a lethal, rare autosomal recessive leukodystrophy, first described in 1931 (Canavan in Arch Neurol Psychiatry 25: 299–308, 1931). The clinical… read more here.

Keywords: spongiform leukodystrophy; canavan spongiform; canavan; report ... See more keywords
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Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.

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recommendations! Published in 2020 at "Gene"

DOI: 10.1016/j.gene.2020.145259

Abstract: Mutations in RNA polymerase III (Pol III) cause hypomeylinating leukodystrophy (HLD) and neurodegeneration in humans. POLR3A and POLR3B, the two largest Pol III subunits, together form the catalytic center and carry the majority of disease… read more here.

Keywords: iii; homolog rpc160; leukodystrophy; cerevisiae homolog ... See more keywords

In vivo characterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL

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recommendations! Published in 2017 at "Neurobiology of Disease"

DOI: 10.1016/j.nbd.2016.10.008

Abstract: BACKGROUND The recently diagnosed leukodystrophy Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL) is caused by mutations of the cytoplasmic aspartyl-tRNA synthetase geneDARS. The physiological role of DARS in translation is… read more here.

Keywords: aspartyl trna; trna synthetase; leukodystrophy; mice ... See more keywords
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PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye

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recommendations! Published in 2020 at "Neuron"

DOI: 10.1016/j.neuron.2020.06.007

Abstract: Loss-of-function variants in the PYRC2 gene cause hypomyelinating leukodystrophy 10 (HLD10), but the associated pathogenic mechanisms are unknown. In this issue of Neuron, Escande-Beillard et al. (2020) reveal that PYRC2 is a key enzyme for proper… read more here.

Keywords: hypomyelinating leukodystrophy; pyrc2 related; leukodystrophy meets; leukodystrophy ... See more keywords
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Elevated Leukodystrophy Incidence Predicted From Genomics Databases.

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recommendations! Published in 2020 at "Pediatric neurology"

DOI: 10.1016/j.pediatrneurol.2020.06.005

Abstract: BACKGROUND Leukodystrophies are genetic diseases affecting the white matter and leading to early death. Our objective was to determine leukodystrophy incidence, using genomics sequencing databases allele frequencies of disease-causing variants. METHODS From 49 genes, representing… read more here.

Keywords: incidence; allele frequencies; leukodystrophy; incidence predicted ... See more keywords
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Expanding the Spectrum of NUBPL -Related Leukodystrophy

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recommendations! Published in 2022 at "Neuropediatrics"

DOI: 10.1055/s-0043-1764214

Abstract: Abstract Mitochondrial leukodystrophies constitute a group of different conditions presenting with a wide range of clinical presentation but with some shared neuroradiological features. Genetic defects in NUBPL have been recognized as cause of a pediatric… read more here.

Keywords: white matter; spectrum; leukodystrophy; spectrum nubpl ... See more keywords
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Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings

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recommendations! Published in 2023 at "Clinical Genetics"

DOI: 10.1111/cge.14300

Abstract: POLR3B gene encodes the 2nd largest catalytic subunit and affects the function of RNA polymerase III enzymes in transcription. Bi‐allelic variants in POLR3B pathogenically cause hypomyelinating leukodystrophy‐8 (HLD8). Herein, we recruited a family with two… read more here.

Keywords: mutations associated; polr3b biallelic; identification polr3b; biallelic mutations ... See more keywords
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First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

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recommendations! Published in 2019 at "Neuropathology and Applied Neurobiology"

DOI: 10.1111/nan.12557

Abstract: Leukodystrophies are rare inherited myelin disorders affecting the white matter of the central nervous system. In several leukodystrophies the underlying disease mechanism is well known but there is still a large group with undiscovered etiology.… read more here.

Keywords: heterozygous variants; variants pigt; report; neuropathological findings ... See more keywords
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Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

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recommendations! Published in 2017 at "Molecular Brain"

DOI: 10.1186/s13041-017-0294-y

Abstract: Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible… read more here.

Keywords: absence neurological; hypomyelinating leukodystrophy; polr3a; mice ... See more keywords