Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin

Fukazawa, Ryosuke; Takeuchi, Hiroki; Oka, Nobuyuki; Shibuya, Toko; Sakai, Norio; Fujii, Akihiro

doi:10.2169/internalmedicine.6094-20

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…It was suggested that in certain KB cases, IVIg may be considered as a form of therapy. 66 Pentraxin-3 (PTX3), a soluble pattern recognition receptor and a regulator of innate immunity, 67 was seen in the CNS of GALC-deficient Krabbe patients and twitcher mice. PTX3 may exert a protective role by reducing the neuroinflammatory response that occurs in the spinal cord of GALC-deficient animals.…”

Section: Therapeutic Approaches For Treatment Of Krabbe Diseasementioning

confidence: 99%

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

Maghazachi

2023

ITT

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Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the enzyme galactosylceramidase/galctocerebrosidase (GALC), resulting in the deposition of the toxic lipid D-galactosyl-beta1-1’ sphingosine (GalSph or psychosine). Several therapeutic modalities were used to treat patients with Krabbe disease, including hematopoietic stem cell transplantation, enzyme replacement therapy, autophagy activators, intravenous immunoglobulin, and inhibitors of the Pyroptosis process, among many other approaches. In this article, I will briefly discuss the disease in both human and animal model, describe recent clinical observations as well as methods utilizing genetic analysis for diagnosis, and finally review recent advances in treating this rare and devastating disease.

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Section: Therapeutic Approaches For Treatment Of Krabbe Diseasementioning

confidence: 99%

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

Maghazachi

2023

ITT

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“…According to some case reports, HSCT may be effective in treating adult-onset GLD patients ( Sharp et al, 2013 ). Moreover, the intravenous injection of gamma globulin has been effective in treating adult-onset GLD patients ( Fukazawa et al, 2021 ). Symptomatic and supportive therapies are still the main clinical regimens for treating adult-onset GLD patients.…”

Section: Therapiesmentioning

confidence: 99%

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy

et al. 2022

Front. Neurosci.

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Globoid cell leukodystrophy (GLD), or Krabbe disease (KD) is a rare neurodegenerative disease, and adult-onset GLD is more even neglected by clinicians. This review provides detailed discussions of the serum enzymes, genes, clinical manifestations, neuroimaging features, and therapies of GLD, with particular emphasis on the characteristics of adult-onset GLD, in an attempt to provide clinicians with in-depth insights into this disease.

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From pathological mechanisms in Krabbe disease to cutting‐edge therapy: A comprehensive review

Ketata,

Ellouz

2024

Neuropathology

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Since its initial documentation by Knud Krabbe in 1916, numerous studies have scrutinized the characteristics of Krabbe disease (KD) until the identification of the mutation in the GALC gene. In alignment with that, we investigated the natural history of KD spanning eight decades to gain a deeper understanding of the evolutionary trajectory of its mechanisms. Through our comprehensive analysis, we unearthed additional novel elements in molecular biology involving the micropathological mechanism of the disease. This review offers an updated perspective on the metabolic disorder that defines KD. Recently, extracellular vesicles (EVs), autophagy impairment, and α‐synuclein have emerged as pivotal players in the neuropathological processes. EVs might serve as a cellular mechanism to avoid or alleviate the detrimental impacts of excessive toxic psychosine levels, and extracting EVs could contribute to synapse dysfunction. Autophagy impairment was found to be independent of psychosine and reliant on AKT and B‐cell lymphoma 2. Additionally, α‐synuclein has been recognized for inducing cellular death and dysfunction in common biological pathways. Our objective is to assess the effectiveness of advanced therapies in addressing this particular condition. While hematopoietic stem cells have been a primary treatment, its administration proves challenging, particularly in the presymptomatic phase. In this review, we have compiled information from over 10 therapy trials, comparing them based on their benefits and disadvantage.

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Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin

Cited by 3 publications

References 14 publications

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy

From pathological mechanisms in Krabbe disease to cutting‐edge therapy: A comprehensive review

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