Advanced search
Publication Cover
International Journal of Neuroscience Volume 130, 2020 - Issue 12
Submit an article Journal homepage
141
Views
7
CrossRef citations to date
0
Altmetric
Case Reports

A new compound heterozygous mutation in adult-onset Krabbe disease

Xianghe MengDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Yingjiao LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Yajun LianDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Yujuan LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Liyuan DuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; View further author information
,
Nanchang XieDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Correspondence[email protected]
View further author information
&
Cui WangDepartment of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaView further author information
 show all
Pages 1267-1271 | Received 26 Jul 2019, Accepted 03 Feb 2020, Published online: 25 Feb 2020

References

  • Krabbe K. A new familial, infantile form of diffuse brain-sclerosis. Brain. 1916;39(1–2):74–114.
  • Zhao S, Zhan X, Wang Y, et al. Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease. Clin Genet. 2018;93(2):248–254.
  • Debs R, Froissart R, Aubourg P, et al. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis. Sep 2013;36(5):859–868.
  • Krabbe Disease, Orphanet Encyclopedia. Availabe at: http://www.orpha.net/. Accessed December 12, 2019.
  • Barczykowski AL, Foss AH, Duffner PK, et al. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. Am J Med Genet. 2012;158a(11):2835–2842.
  • Duffner PK, Barczykowski A, Kay DM, et al. Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry. Pediatr neurol. 2012;46(5):298–306.
  • Orsini JJ, Escolar ML, Wasserstein MP, et al. Krabbe Disease In: Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews((R)). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.
  • Suzuki K, Suzuki Y. Globoid Cell Leucodystrophy (Krabbe’s Disease): Deficiency of Galactocerebroside β-Galactosidase. Proc Nat Acad Sci. 1970;66(2):302–309.
  • Cannizzaro L, Chen Y, Rafi M, et al. Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization. Cytogenet Cell Genet. 1994;66(4):244–245.
  • Luzi P, Rafi MA, Wenger DA. Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics. 1995;26(2):407–409.
  • Graziano ACE, Cardile V. History, genetic, and recent advances on Krabbe disease. Gene. 2015;555(1):2–13.
  • Lim ZY, Ho AY, Abrahams S, et al. Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease. Bone marrow Transplant. 2008;41(9):831–832.
  • Laule C, Vavasour IM, Shahinfard E, et al. Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft. J Neuroimaging Off J Am Soc Neuroimaging. 2018;28(3):252–255.
  • Wenger DA, Luzi P. Krabbe disease: globoid cell leukodystrophy. In: Rosenberg’s molecular and genetic basis of neurological and psychiatric disease. Amsterdam, Netherlands: Elsevier; 2015. p. 337–346.
  • Farina L, Bizzi A, Finocchiaro G, et al. MR imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol. 2000;21(8):1478–1482.
  • Abdelhalim AN, Alberico RA, Barczykowski AL, et al. Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype. Pediatr Neurol. 2014;50(2):127–134.
  • Suzuki K. Globoid Cell Leukodystrophy (Krabbe’s Disease): Update. J Child Neurol. 2003;18(9):595–603.
  • Svennerholm L, Vanier M, Månsson J. Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. J Lipid Res. 1980;21(1):53–64.
  • Yang Y, Ren X, Xu Q, et al. Four novel GALC gene mutations in two Chinese patients with Krabbe disease. Gene. 2013;519(2):381–384.
  • Lissens W, Arena A, Seneca S, et al. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Hum Mutat. 2007;28(7):742–742.
  • Wenger DA, Rafi MA, Luzi P. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. Hum Mutat. 1997;10(4):268–279.
  • Loes DJ, Peters C, Krivit W. Globoid Cell Leukodystrophy: Distinguishing Early-Onset from Late-Onset Disease Using a Brain MR Imaging Scoring Method. AJNR Am J Neuroradiol. 1999;20(2):316–323.
  • Furuya H, Kukita Y, Nagano S, et al. Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. Human Genet. 1997;100(3-4):450–456.
  • Satoh JI, Tokumoto H, Kurohara K, et al. Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. Neurology. 1997;49(5):1392–1399.
  • Hossain MA, Otomo T, Saito S, et al. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. Gene. 2014;534(2):144–154.
  • Zhang T, Yan C, Ji K, et al. Adult-onset Krabbe disease in two generations of a Chinese family. Ann Transl Med. 2018;6(10):174–174.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.