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Page 1
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
Definitions, clinical characteristics, age of onset, MRI findings and treatment options are all described, providing a comprehensive overview of the current knowledge of the various adulthood leukodystrophies. We highlight the distinction between adult-onset
Definitions, clinical characteristics, age of onset, MRI findings and treatment options are all described, providing a comprehensive overvie …
Type I Alexander disease: Update and validation of the clinical evolution-based classification.
Vaia Y, Mura E, Tonduti D. Vaia Y, et al. Mol Genet Metab. 2023 Mar;138(3):107540. doi: 10.1016/j.ymgme.2023.107540. Epub 2023 Feb 10. Mol Genet Metab. 2023. PMID: 36804850 Review.
BACKGROUND AND OBJECTIVES: Alexander disease (AxD) is a rare progressive leukodystrophy caused by autosomal dominant mutations in the Glial Fibrillary Acidic Protein (GFAP) gene. ...Articles that reported no patient's medical history and the articles about …
BACKGROUND AND OBJECTIVES: Alexander disease (AxD) is a rare progressive leukodystrophy caused by autosomal dominant mu …
Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease.
Padiath QS, Fu YH. Padiath QS, et al. Methods Cell Biol. 2010;98:337-57. doi: 10.1016/S0091-679X(10)98014-X. Methods Cell Biol. 2010. PMID: 20816241 Review.
Autosomal dominant leukodystrophy (ADLD) is an adult-onset demyelinating disorder that has recently shown to be caused by duplications of the nuclear lamina gene, lamin B1. ...Understanding these mechanisms may not only prove helpful in u
Autosomal dominant leukodystrophy (ADLD) is an adult-onset demyelinating disorder that has recentl
Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies.
Padiath QS. Padiath QS. Nucleus. 2016 Nov;7(6):547-553. doi: 10.1080/19491034.2016.1260799. Nucleus. 2016. PMID: 27854160 Free PMC article. Review.
Autosomal Dominant Leukodystrophy (ADLD), a fatal adult onset demyelinating disorder, is the only human disease that has been linked to mutations of the nuclear lamina protein, lamin B1, and is primarily caused by duplications of the LMNB
Autosomal Dominant Leukodystrophy (ADLD), a fatal adult onset demyelinating disorder, is the only
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Adams SJ, Kirk A, Auer RN. Adams SJ, et al. J Clin Neurosci. 2018 Feb;48:42-49. doi: 10.1016/j.jocn.2017.10.060. Epub 2017 Nov 6. J Clin Neurosci. 2018. PMID: 29122458 Review.
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ...Antemortem diagnoses of autopsy-confirmed ALSP vary significantly, and include primary progressive multiple sclerosis, frontotempo
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter dis
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.
Heshmatzad K, Naderi N, Masoumi T, Pouraliakbar H, Kalayinia S. Heshmatzad K, et al. Eur J Med Res. 2022 Sep 10;27(1):174. doi: 10.1186/s40001-022-00799-5. Eur J Med Res. 2022. PMID: 36088400 Free PMC article. Review.
BACKGROUND: Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in GFAP lead to this disorder and it is classified into three distinguishable subgroups: infantile, juvenile, and adult-onset type …
BACKGROUND: Alexander disease (AxD) is a rare leukodystrophy with an autosomal dominant inheritance mode. Variants in G …
[Myelin diseases affecting both the central and the peripheral nervous system].
Hagen K, Mellgren SI, Bovim G. Hagen K, et al. Tidsskr Nor Laegeforen. 1998 Sep 30;118(23):3600-2. Tidsskr Nor Laegeforen. 1998. PMID: 9820004 Review. Norwegian.
A Norwegian family with adult-onset demyelinating disease affecting both the peripheral and central nervous system has recently been described. The mode of inheritance is probably autosomal dominant, but its exact nature remains unknown....
A Norwegian family with adult-onset demyelinating disease affecting both the peripheral and central nervous system has …
[A Japanese family with probably autosomal dominant adult-onset leukodystrophy].
Asahara H, Yoshimura T, Sada S, Furuya H, Kobayashi T. Asahara H, et al. Rinsho Shinkeigaku. 1996 Aug;36(8):968-72. Rinsho Shinkeigaku. 1996. PMID: 8958750 Review. Japanese.
We report here a family with leukodystrophy clinical features of which are characterized as adult onset, probably autosomal dominant inheritance, hyperreflexia, cerebellar ataxia, autonomic dysfunction and no peripheral nerve involvement. ...Our …
We report here a family with leukodystrophy clinical features of which are characterized as adult onset, probably au