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Page 1
Clinical management of Krabbe disease.
Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K. Escolar ML, et al. J Neurosci Res. 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. J Neurosci Res. 2016. PMID: 27638597 Review.
Krabbe disease (KD) is a rare neurodegenerative disorder caused by mutations in the gene encoding the galactocerebrosidase enzyme. The early- and late-infantile subtypes, which are the most common forms of the disease, are rapidly progressive and lead to early death …
Krabbe disease (KD) is a rare neurodegenerative disorder caused by mutations in the gene encoding the galactocerebrosidase enzyme. The early …
Leukodystrophies with astrocytic dysfunction.
Rodriguez D. Rodriguez D. Handb Clin Neurol. 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. Handb Clin Neurol. 2013. PMID: 23622383 Review.
Neurological degradation, megalencephaly, and typical MRI pattern are characteristic of infantile sporadic patients. Nevertheless, clinical and MRI expression is large, including late onset forms which can be familial. ...The visualization of a white matter cystic b …
Neurological degradation, megalencephaly, and typical MRI pattern are characteristic of infantile sporadic patients. Nevertheless, cl …
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
van Rappard DF, Boelens JJ, Wolf NI. van Rappard DF, et al. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):261-73. doi: 10.1016/j.beem.2014.10.001. Epub 2014 Oct 16. Best Pract Res Clin Endocrinol Metab. 2015. PMID: 25987178 Review.
Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system leading to demyelination. The disease is classified in a late-infantile, juvenile and adult onset type based on the age of onset, all characterized …
Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system leading to demyelinat …
Metachromatic leukodystrophy--an update.
Gieselmann V, Krägeloh-Mann I. Gieselmann V, et al. Neuropediatrics. 2010 Feb;41(1):1-6. doi: 10.1055/s-0030-1253412. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571983 Review.
Interest in the disease has increased as therapeutic options such as stem cell transplantation, enzyme replacement and gene therapy are topics of current research. A late-infantile (onset before 3 years of age), a juvenile form (onset before 16 years) and an adult f …
Interest in the disease has increased as therapeutic options such as stem cell transplantation, enzyme replacement and gene therapy are topi …
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.
Sevin C, Aubourg P, Cartier N. Sevin C, et al. J Inherit Metab Dis. 2007 Apr;30(2):175-83. doi: 10.1007/s10545-007-0540-z. Epub 2007 Mar 8. J Inherit Metab Dis. 2007. PMID: 17347913 Review.
Based on the age at onset, the disease is usually classified into three forms: the late-infantile form, which manifests in the second year of life; the juvenile variants (onset between 4 and 12 years), which are subdivided into early-juvenile (EJ, onset before 6 yea …
Based on the age at onset, the disease is usually classified into three forms: the late-infantile form, which manifests in the …
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases.
Komatsuzaki S, Zielonka M, Mountford WK, Kölker S, Hoffmann GF, Garbade SF, Ries M. Komatsuzaki S, et al. Genet Med. 2019 Oct;21(10):2208-2215. doi: 10.1038/s41436-019-0480-7. Epub 2019 Mar 22. Genet Med. 2019. PMID: 30899093 Free article. Review.
METHODS: We performed a quantitative analysis of published cases (N = 248) with Krabbe disease, stratified by age at disease onset: early infantile (age 0-6 months), late infantile (age 7-36 months), juvenile/adolescent (age 37-180 months), and adult onset (& …
METHODS: We performed a quantitative analysis of published cases (N = 248) with Krabbe disease, stratified by age at disease onset: early …
Developing treatment options for metachromatic leukodystrophy.
Batzios SP, Zafeiriou DI. Batzios SP, et al. Mol Genet Metab. 2012 Jan;105(1):56-63. doi: 10.1016/j.ymgme.2011.10.002. Epub 2011 Oct 18. Mol Genet Metab. 2012. PMID: 22078456 Review.
Metachromatic leukodystrophy (MLD) represents a devastating lysosomal storage disease characterized by intralysosomal accumulation of the sphingolipid sulfatide in various tissues. Three types of the disease are currently distinguished: the late-infantile, which is …
Metachromatic leukodystrophy (MLD) represents a devastating lysosomal storage disease characterized by intralysosomal accumulation of the sp …
Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS. Mahmood A, et al. J Child Neurol. 2010 May;25(5):572-80. doi: 10.1177/0883073809341669. Epub 2009 Dec 28. J Child Neurol. 2010. PMID: 20038527 Free PMC article. Review.
Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. ...Survival in the late infantile subtype wa …
Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late …
Krabbe disease: neurophysiologic studies and MRI correlations.
Husain AM, Altuwaijri M, Aldosari M. Husain AM, et al. Neurology. 2004 Aug 24;63(4):617-20. doi: 10.1212/01.wnl.0000134651.38196.f8. Neurology. 2004. PMID: 15326231 Review.
RESULTS: Data were available for 26 children: 20 with early infantile KD (EIKD) and 6 with late-onset KD (LOKD). Flash visual evoked potentials were abnormal in 53% of EIKD children, whereas none of the LOKD children had an abnormal study. ...Abnormal neurophysiolog …
RESULTS: Data were available for 26 children: 20 with early infantile KD (EIKD) and 6 with late-onset KD (LOKD). Flash visual …
The clinical spectrum of late-onset Alexander disease: a systematic literature review.
Balbi P, Salvini S, Fundarò C, Frazzitta G, Maestri R, Mosah D, Uggetti C, Sechi G. Balbi P, et al. J Neurol. 2010 Dec;257(12):1955-62. doi: 10.1007/s00415-010-5706-1. Epub 2010 Aug 20. J Neurol. 2010. PMID: 20721574 Review.
Following the discovery of glial fibrillary acidic protein (GFAP) mutations as the causative factor of Alexander disease (AxD), new case reports have recently increased, prompting a more detailed comprehension of the clinical features of the three disease subtypes (infantile …
Following the discovery of glial fibrillary acidic protein (GFAP) mutations as the causative factor of Alexander disease (AxD), new case rep …
21 results