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2017 4
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34 results

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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 Free PMC article. Review.
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal spheroids, autosomal dominant …
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, met …
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative disease characterized by neurogenic bladder, spastic paraparesis, and peripheral neuropathy. ...
The adult-onset form of GSD IV, referred to as adult polyglucosan body disease (APBD), is a neurodegenerative di …
Neurological glycogen storage diseases and emerging therapeutics.
Colpaert M, Singh PK, Donohue KJ, Pires NT, Fuller DD, Corti M, Byrne BJ, Sun RC, Vander Kooi CW, Gentry MS. Colpaert M, et al. Neurotherapeutics. 2024 Sep;21(5):e00446. doi: 10.1016/j.neurot.2024.e00446. Epub 2024 Sep 14. Neurotherapeutics. 2024. PMID: 39277505 Free PMC article. Review.
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.
Duran J. Duran J. Cells. 2023 Feb 24;12(5):722. doi: 10.3390/cells12050722. Cells. 2023. PMID: 36899857 Free PMC article. Review.
These results identify a primary role of astrocytes in the pathophysiology of Lafora disease and have important implications for other conditions in which glycogen abnormally accumulates in astrocytes, such as Adult Polyglucosan Body disease and the bu …
These results identify a primary role of astrocytes in the pathophysiology of Lafora disease and have important implications for other condi …
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS, Badia BML, Farias IB, Pinto WBVR, Oliveira ASB, Akman HO, DiMauro S. Souza PVS, et al. J Inherit Metab Dis. 2021 May;44(3):534-543. doi: 10.1002/jimd.12325. Epub 2020 Nov 13. J Inherit Metab Dis. 2021. PMID: 33141444 Review.
Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen-branching enzyme and seco …
Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorde …
Proteomic profiling of polyglucosan bodies associated with glycogenin-1 deficiency in skeletal muscle.
Visuttijai K, Hedberg-Oldfors C, Costello DJ, Bermingham N, Oldfors A. Visuttijai K, et al. Neuropathol Appl Neurobiol. 2024 Jun;50(3):e12995. doi: 10.1111/nan.12995. Neuropathol Appl Neurobiol. 2024. PMID: 38923610
AIMS: Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions, including Lafora disease (EPM2A, EPM2B), adult polyglucosan body disease (APBD, GBE1), polyglucosan body myopathies associated with …
AIMS: Polyglucosan storage disorders represent an emerging field within neurodegenerative and neuromuscular conditions, including Lafora dis …
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.
Armangue T, Whitehead MT, Tonduti D, Farina L, Tavasoli AR, Vossough A, Bennett ML, Vaia Y, Bernard G, Salsano E, Mercimek-Andrews S, Waldman A, Vanderver A. Armangue T, et al. AJNR Am J Neuroradiol. 2024 Jun 7;45(6):769-772. doi: 10.3174/ajnr.A8220. AJNR Am J Neuroradiol. 2024. PMID: 38697787 Free PMC article.

RESULTS: The identified pattern was present in 87% of subjects with Alexander disease and 14% of those without Alexander disease leukodystrophy (P < .001), 3 with vanishing white matter, 4 with adult polyglucosan body disease, and 3 others. It was f

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RESULTS: The identified pattern was present in 87% of subjects with Alexander disease and 14% of those without Alexander disease leukodystro …
34 results