NEURORADIOLOGICAL, NEUROPHYSIOLOGICAL AND MOLECULAR FINDINGS IN INFANTILE KRABBE DISEASE: TWO CASE REPORTS
Vargiami E, Papathanasiou E, Batzios S, Kyriazi M, Dimitriou E, Anastasiou A, Michelakakis H, Giese A-K, Zafeiriou DI,
*Corresponding Author: Dimitrios I. Zafeiriou, M.D., Ph.D., Professor in Child Neurology and Developmental Pediatrics, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Egnatia St. 106, 54622 Thessaloniki, Greece. Tel./Fax: +30-2310-241-845. Mobile: +30-6944-330-587. E-mail: jeff@med.auth.gr
page: 85

REFERENCES

1. Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, et al. A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: First report of saposin A deficiency in humans. Mol Genet Metab. 2005; 84(2): 160-166. 2. Graziano AC, Cardile V. History, genetic, and recent advances on Krabbe disease. Gene. 2015; 555(1): 2-13. 3. Szymanska K, Lugowska A, Laure-Kamionowska M, Bekiesinska-Figatowska M, Gieruszczak- Bialek D, Musielak M, et al. Diagnostic difficulties in Krabbe disease: A report of two cases and review of literature. Folia Neuropathol. 2012; 50(4): 346-56. 4. Suzuki K. Twenty five years of the “psychosine hypothesis”: A personal perspective of its history and present status. Neurochem Res. 1998; 23(3): 251-259. 5. Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, et al. Krabbe disease in adults: Phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis. 2013; 36(5): 859-868. 6. van der Knaap MS, Valk J. Globoid cell leukodystrophy (Krabbe disease). In: van der Knaap M, Valk J, Eds. Magnetic Resonance of Myelination and Myelin Disorders, 3rd ed. Berlin, Germany: Springer-Verlag. 2005: 87-95. 7. Kolodny EH, Raghavan S, Krivit W. Late-onset Krabbe disease (globoid cell leukodystrophy): Clinical and biochemical features of 15 cases. Dev Neurosci. 1991; 13(4-5): 232-239. 8. Zafeiriou DI, Anastasiou AL, Michelakaki EM, Augoustidou-Savvopoulou PA, Katzos GS, Kontopoulos EE. Early infantile Krabbe disease: Deceptively normal magnetic resonance imaging and serial neurophysiological studies. Brain Dev. 1997; 19(7): 488-491. 9. Zafeiriou DI, Michelakaki EM, Anastasiou AL, Gombakis NP, Kontopoulos EE. Serial MRI and neuro-physiological studies in late-infantile Krabbe disease. Pediatr Neurol. 1996; 15(3): 240-244. 10. Hogan GR, Gutmann L, Chou SM. The peripheral neuropathy of Krabbe’s (globoid) leukodystrophy. Neurology. 1969; 19(11): 1093-1097. 11. Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, et al. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat. 2010; 31(12): E1894-E1914. 12. Dimitriou E, Cozar M, Mavridou I, Grinberg D, Vilageliu L, Michelakakis H. The spectrum of Krabbe disease in Greece: Biochemical and molecular findings. JIMD Rep. 2015 Jun 25. [Epub ahead of print] doi: 10. 1007/j.jimdrep. 8904_2015_457. 13. Hussain SA, Zimmerman HH, Abdul-Rahman OA, Hussaini SM, Parker SS, Khan M, et al. Optic nerve enlargement in Krabbe disease: A pathophysiologic and clinical perspective. J Child Neurol. 2011; 26(5): 642-644. 14. Kardas F, Uzak AS, Hossain MA, Sakai N, Canpolat M, Yıkılmaz A. A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease. Gene. 2013; 517(1): 125-127.



Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006