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Quoted phrase not found in phrase index: "Leukodystrophy, hypomyelinating, 14"
Page 1
An update on the leukodsytrophies.
Schiffmann R, Boespflüg-Tanguy O. Schiffmann R, et al. Curr Opin Neurol. 2001 Dec;14(6):789-94. doi: 10.1097/00019052-200112000-00018. Curr Opin Neurol. 2001. PMID: 11723390 Review.
We also describe seven novel leukodystrophies. These include childhood ataxia with central nervous system hypomyelination, a relatively common leukodystrophy syndrome with linkage to chromosome 3 in some patients, and megalencephalic leukoencephalopathy with …
We also describe seven novel leukodystrophies. These include childhood ataxia with central nervous system hypomyelination, a r …
A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.
Ünalp A, Köse M, Karaoğlu P, Güzin Y, Yılmaz Ü. Ünalp A, et al. Turk J Pediatr. 2022;64(4):747-753. doi: 10.24953/turkjped.2021.1662. Turk J Pediatr. 2022. PMID: 36082649 Free article.
BACKGROUND: Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. ...His brain magnetic resonance imaging revealed cerebellar atrophy, periventricular whi …
BACKGROUND: Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous …
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
Chelban V, Alsagob M, Kloth K, Chirita-Emandi A, Vandrovcova J, Maroofian R, Davagnanam I, Bakhtiari S, AlSayed MD, Rahbeeni Z, AlZaidan H, Malintan NT, Johannsen J, Efthymiou S, Ghayoor Karimiani E, Mankad K, Al-Shahrani SA, Beiraghi Toosi M, AlShammari M, Groppa S, Haridy NA, AlQuait L, Qari A, Huma R, Salih MA, Almass R, Almutairi FB, Hamad MH, Alorainy IA, Ramzan K, Imtiaz F, Puiu M, Kruer MC, Bierhals T, Wood NW, Colak D, Houlden H, Kaya N. Chelban V, et al. Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17. Eur J Neurol. 2020. PMID: 31509304 Free PMC article.
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. ...CONCLUSIONS: NKX6-2 mutations should be considered in patients with autosomal …
BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum o …
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E. Mierzewska H, et al. Folia Neuropathol. 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. Folia Neuropathol. 2016. PMID: 27179222 Free article.
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination - hypomyelination and dysmyelination of cerebral white m …
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which code …
Myelin oligodendrocyte glycoprotein and aquaporin-4 antibodies are highly specific in children with acquired demyelinating syndromes.
Duignan S, Wright S, Rossor T, Cazabon J, Gilmour K, Ciccarelli O, Wassmer E, Lim M, Hemingway C, Hacohen Y. Duignan S, et al. Dev Med Child Neurol. 2018 Sep;60(9):958-962. doi: 10.1111/dmcn.13703. Epub 2018 Feb 22. Dev Med Child Neurol. 2018. PMID: 29468668 Free article.
Of the 33 children with neuromyelitis optic spectrum disorder, 14 were AQP4-Ab positive, 13 were MOG-Ab positive, and 6 were seronegative. ...Myelin oligodendrocyte glycoprotein antibodies are not identified in children with peripheral demyelination or genetic leukodyst …
Of the 33 children with neuromyelitis optic spectrum disorder, 14 were AQP4-Ab positive, 13 were MOG-Ab positive, and 6 were seronega …
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.
La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. La Piana R, et al. J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7. J Child Neurol. 2014. PMID: 24105487
The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects and (2) to compare the neuroradiologic pattern of Pol III-related leukodystrophies with other hypomyelinating disorders. The magnetic resonance imagi …
The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects and (2) to compare the …
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I, Karkar A, Drissi C, Benrhouma H, Klaa H, Samaan S, Renaldo F, Elmaleh M, Ben Hamouda M, Abdelhak S, Boespflug-Tanguy O, Ben Youssef-Turki I, Dorboz I. Kraoua I, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e914. doi: 10.1002/mgg3.914. Epub 2019 Jul 31. Mol Genet Genomic Med. 2019. PMID: 31368241 Free PMC article.
Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified. METHODS: We report the case of a Tunisian girl of 14 years of age who was referred to our department for evaluation of progressive ataxia that began at the age of 5 …
Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified. METHODS: We report the case of …
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Bernard G, et al. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014. Am J Hum Genet. 2011. PMID: 21855841 Free PMC article.
In total, 14 recessive mutations were found in 19 individuals with TACH, 4H, or LO, establishing that these leukodystrophies are allelic. ...This type of broad alteration in protein synthesis is predicted to occur in other leukoencephalopathies such as hypomyelin …
In total, 14 recessive mutations were found in 19 individuals with TACH, 4H, or LO, establishing that these leukodystrophies a …
The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N. Sumida K, et al. Brain Dev. 2016 Jun;38(6):571-80. doi: 10.1016/j.braindev.2015.12.007. Epub 2016 Jan 13. Brain Dev. 2016. PMID: 26774704
METHODS: We collected the magnetic resonance imaging (MRI) findings of 19 genetically proven PMD patients (all males, aged 0-29years old) using our integrated web-based MRI data collection system from 14 hospitals. The patterns of hypomyelination were determined mai …
METHODS: We collected the magnetic resonance imaging (MRI) findings of 19 genetically proven PMD patients (all males, aged 0-29years old) us …