Infantile Globoid Cell Leucodystrophy – (Krabbe's Disease) A clinical and genetic study of 32 Swedish cases 1953–1967

Hagberg, B; Kollberg, H; Sourander, Patrick; Åkesson, Hans Olof

doi:10.1055/s-0028-1091865

Cited by 93 publications

(42 citation statements)

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“…These phenotypes are probably under-represented in the current survey. Hagberg et al (1969) have reported a birth prevalence of 1.9 per 100,000 for Krabbe disease in Sweden, where this disease is particularly prevalent, and estimates of 1:150,000 (0.67 per 100,000) for France, 1 : 100,000-200,000 (0.5-1.0 per 100,000) for Japan (Scriver et al 1995) and 1 : 141,000 (0.71 per 100,0000 for Australia (Meikle et al 1999) have been given. Our estimate of 1.35 per 100,000 falls in between the estimates for Sweden and France; Krabbe disease belongs to the more frequent lipidoses in The Netherlands.…”

Section: Discussionmentioning

confidence: 97%

The frequency of lysosomal storage diseases in The Netherlands

Poorthuis

Wevers²,

Kleijer³

et al. 1999

Hum Genet

622

427

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We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970-1996. The combined birth prevalence for all LSDs is 14 per 100,000 live births. Glycogenosis type II is the most frequent LSD with a birth prevalence of 2.0 per 100,000 live births, representing 17% of all diagnosed cases. Within the group of lipidoses, metachromatic leukodystrophy (MLD) is the most frequent LSD. MLD was diagnosed in 24% of lipidoses and the calculated birth prevalence was 1.42 per 100,000 for all types combined. Krabbe disease, diagnosed in 17% of cases, also belongs to the more frequent lipid storage diseases in The Netherlands with a birth prevalence of 1.35 per 100,000. The birth prevalence of Gaucher disease, commonly regarded as the most frequent lipid storage disease is 1.16 per 100,000 for all types combined. The combined birth prevalence for all lipid storage diseases is 6.2 per 100,000 live births. Within the group of mucopolysaccharidoses (MPSs), MPS I has the highest calculated birth prevalence of 1.19 per 100,000 (25% of all cases of MPS diagnosed), which is slightly more frequent than MPS IIIA with an estimated birth prevalence of 1.16 per 100,000. As a group, MPS III comprises 47% of all MPS cases diagnosed and the combined birth prevalence is 1.89 per 100,000 live births. The birth prevalence of MPS II is 0.67 per 100,000 (1.30 per 100,000 male live births). All other MPSs are rare. The combined birth prevalence for all MPSs is 4.5 per 100,000 live births. Mucolipidoses and oligosaccharidoses are very rare with birth prevalences between 0.04 and 0.20 for individual diseases. Only 49 cases were diagnosed between 1970 and 1996. Their combined birth prevalence is 1.0 per 100,000 live births.

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Section: Discussionmentioning

confidence: 97%

The frequency of lysosomal storage diseases in The Netherlands

Poorthuis

Wevers²,

Kleijer³

et al. 1999

Hum Genet

622

427

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“…GLD is more frequent in infants than in adults (Hagberg et al, 1970;Crome et al, 1973), and it has remained without a definitive long-term cure. Gene therapy, enzyme replacement, and cell therapy have been tested in animal models of the disease as well as in patients with varied results (Umezawa et al, 1985;Hoogerbrugge et al, 1989;Krivit et al, 1995;Wu et al, 2000Wu et al, , 2001Luddi et al, 2001;Luzi et al, 2005;Yagi et al, 2004;Dolcetta et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Autonomic Denervation of Lymphoid Organs Leads to Epigenetic Immune Atrophy in a Mouse Model of Krabbe Disease

Galbiati¹,

Basso²,

Cantuti³

et al. 2007

J. Neurosci.

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Lysosomal ␤-galactosylceramidase deficiency results in demyelination and inflammation in the nervous system causing the neurological Krabbe disease. In the Twitcher mouse model of this disease, we found that neurological symptoms parallel progressive and severe lymphopenia. Although lymphopoiesis is normal before disease onset, primary and secondary lymphoid organs progressively degenerate afterward. This occurs despite preserved erythropoiesis and leads to severe peripheral lymphopenia caused by reduced numbers of T cell precursors and mature lymphocytes. Hematopoietic cell replacement experiments support the existence of an epigenetic factor in mutant mice reconcilable with a progressive loss of autonomic axons that hampers thymic functionality. We propose that degeneration of autonomic nerves leads to the irreversible thymic atrophy and loss of immune-competence. Our study describes a new aspect of Krabbe disease, placing patients at risk of immune-related pathologies, and identifies a novel target for therapeutic interventions.

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“…The incidence of GLD varies from 0.4 to 1.9 in 100 000 live births according to the population studied [10,24].…”

Section: Introductionmentioning

confidence: 99%

Original article Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature

Sztefko

Ługowska²,

Laure‐Kamionowska³

et al. 2012

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Infantile Globoid Cell Leucodystrophy – (Krabbe's Disease) A clinical and genetic study of 32 Swedish cases 1953–1967

Cited by 93 publications

References 1 publication

The frequency of lysosomal storage diseases in The Netherlands

The frequency of lysosomal storage diseases in The Netherlands

Autonomic Denervation of Lymphoid Organs Leads to Epigenetic Immune Atrophy in a Mouse Model of Krabbe Disease

Original article Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature

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