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Quoted phrase not found in phrase index: "Leukodystrophy, hypomyelinating, 18"
Page 1
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Hülsmeier AJ, Toelle SP, Bellstedt P, Wentzel C, Bahr A, Kolokotronis K, Hornemann T. Hülsmeier AJ, et al. J Lipid Res. 2023 Dec;64(12):100464. doi: 10.1016/j.jlr.2023.100464. Epub 2023 Oct 27. J Lipid Res. 2023. PMID: 37890668 Free PMC article.
The C4-dihydroceramide desaturase (DEGS1) catalyzes the conversion of dihydroceramide to ceramide, the final step in the SL de-novo synthesis. Loss of function mutations in DEGS1 cause a hypomyelinating leukodystrophy, which is associated with increased plasma dihyd …
The C4-dihydroceramide desaturase (DEGS1) catalyzes the conversion of dihydroceramide to ceramide, the final step in the SL de-novo synthesi …
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.
Shahrour MA, Ashhab M, Edvardson S, Gur M, Abu-Libdeh B, Elpeleg O. Shahrour MA, et al. Neurogenetics. 2017 Jul;18(3):135-139. doi: 10.1007/s10048-017-0515-7. Epub 2017 May 10. Neurogenetics. 2017. PMID: 28493104
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. ...We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy …
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath …
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G. Potic A, et al. Orphanet J Rare Dis. 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6. Orphanet J Rare Dis. 2023. PMID: 37443037 Free PMC article. Review.
Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystrophy on magnetic resonance imaging. If left untreated, progressive neurodegeneration occurs. ...RESULTS: Two siblings presented in childh …
Onset typically occurs in late infancy and is characterized by psychomotor regression, epilepsy, and a hypomyelinating leukodystro …
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A. Miyake N, et al. Neurogenetics. 2017 Dec;18(4):185-194. doi: 10.1007/s10048-017-0520-x. Epub 2017 Aug 26. Neurogenetics. 2017. PMID: 28842795 Free PMC article.
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIF …
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H- …
Child Neurology: Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl.
Dinov D, Vorona G, Harper A. Dinov D, et al. Neurology. 2021 Nov 2;97(18):875-878. doi: 10.1212/WNL.0000000000012445. Epub 2021 Jun 29. Neurology. 2021. PMID: 34187860
POLR3-related disorders are rare hypomyelinating leukodystrophies associated with hypodontia. We present a female patient, who was referred to pediatric neurology at 2 years of age for tremor, low tone, and motor delays. ...Laboratory workup was unrevealing. MRI was …
POLR3-related disorders are rare hypomyelinating leukodystrophies associated with hypodontia. We present a female patient, who …
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
Remerand G, Boespflug-Tanguy O, Tonduti D, Touraine R, Rodriguez D, Curie A, Perreton N, Des Portes V, Sarret C; RMLX/AHDS Study Group. Remerand G, et al. Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13. Dev Med Child Neurol. 2019. PMID: 31410843 Free article.
This study extends the phenotypic spectrum of AHDS to a mild intellectual disability with hypotonia. Developmental delay, hypotonia, hypomyelination, and thyroid hormone profile help to diagnose patients. Clinical course depends on initial severity, with stable acqu …
This study extends the phenotypic spectrum of AHDS to a mild intellectual disability with hypotonia. Developmental delay, hypotonia, hypo …
A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.
Shiihara T, Watanabe M, Moriyama K, Uematsu M, Sameshima K. Shiihara T, et al. Brain Dev. 2015 Apr;37(4):455-8. doi: 10.1016/j.braindev.2014.06.011. Epub 2014 Jul 16. Brain Dev. 2015. PMID: 25043250
BACKGROUND: Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. ...He had delayed development from several months …
BACKGROUND: Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spas …
Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.
Mierzewska H, van der Knaap MS, Scheper GC, Jurkiewicz E, Schmidt-Sidor B, Szymańska K. Mierzewska H, et al. Folia Neuropathol. 2006;44(2):144-8. Folia Neuropathol. 2006. PMID: 16823698 Free article.
Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin breakdown products, and predominantly involving the cerebral hemispheric white matter. ...Neurological examination showed mild tremor of hands and head, …
Neuropathological findings comprise a severe, cavitating orthochromatic leukodystrophy with only small amounts of myelin breakdown pr …