A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01178-4
Abstract: A 16-year-old boy was admitted to our clinic with facial dysmorphism involving microphthalmia, short narrow palpebral fissures, a narrow nose, a depressed nasal bridge, micrognathia, and clinodactyly. Neurological examination revealed spastic tetraparesis, upper and lower… read more here.
Keywords: hypomyelinating leukodystrophy; calcification oculodentodigital; calcification; oculodentodigital dysplasia ... See more keywords
Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2020.12.008
Abstract: INTRODUCTION Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants in the AIMP1 gene have… read more here.
Keywords: hypomyelinating leukodystrophy; aimp1; peripheral nerves; aimp1 variant ... See more keywords
PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye
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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
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1679911
Abstract: Abstract Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as… read more here.
Keywords: hypomyelinating leukodystrophy; cord; two unrelated; cord involvement ... See more keywords
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/s-0042-1760366
Abstract: Abstract Background Biallelic pathogenic variants in AIMP1 gene cause hypomyelinating leukodystrophy type 3, a severe neurodegenerative disorder with early onset characterized by microcephaly, axial hypotonia, epilepsy, spasticity, and developmental delay. Methods Clinical exome sequence was… read more here.
Keywords: aimp1 gene; splice site; splice; hypomyelinating leukodystrophy ... See more keywords
Identification of POLR3B biallelic mutations‐associated hypomyelinating leukodystrophy‐8 in two siblings
Sign Up to like & getrecommendations! 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
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
Sign Up to like & getrecommendations! 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
Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy
Sign Up to like & getrecommendations! Published in 2018 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000288
Abstract: Transmembrane protein 106B (TMEM106B; NM_001134232) was recently identified as a gene responsible for a form of hypomyelinating leukodystrophy (HLD).1,2 All 5 cases identified to date carry the identical c.754 G > A, (p.Asp252Asn) mutation.1,2 Although… read more here.
Keywords: hypomyelinating leukodystrophy; dysfunction tmem106b; tmem106b; biology ... See more keywords
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200022
Abstract: Objective To report the clinical presentation of the first Italian child affected by hypomyelinating leukodystrophy (HLD) associated with the recurrent variant p.Asp252Asn in the TMEM106B gene. Methods The methods included clinical case description, neurophysiologic assessment,… read more here.
Keywords: movement; tmem106b; may early; early symptoms ... See more keywords