Ultrastructure of Globoid Leukodystrophy (Krabbeʼs Disease) With Reference to the Origin of Globoid Cells

Liu, HM

doi:10.1097/00005072-197007000-00008

Cited by 32 publications

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“…Between 1906 and1973, 9 cases have been published, with typical neuropathological features [1][2][3][4][5][6][7][8][9][10]. From 1973From to 1987 cases with the specific enzyme defect were reported [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28], In 1987, Lyon and Hagberg presented the results of an European inquiry at the meeting of the European Federation of Child Neurology Societies in HyvinkaS, Finland.…”

Section: Introductionmentioning

confidence: 99%

Symptomatology of Late Onset Krabbe's Leukodystrophy: The European Experience

Lyon¹,

Hagberg²,

Evrard³

et al. 1991

Dev Neurosci

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The authors present a study of 50 patients with late onset Krabbe''s leukodystrophy (LOKL), including 27 from a pooled European Series collected in 1987, and 23 published between 1906 and 1987. In Europe, the disease appears to be relatively frequent in Sicily and exceedingly rare in Sweden. Most cases started before the age of 5 years. The initial signs consisted mainly of progressive motor impairment, although, characteristically, visual failure was the initial manifestation in 25% of patients. Low nerve conduction velocities and a high protein content in the CSF were only present in 50%. There was no age-linked symptomatic predominance. The pace and length of the disease was very variable, but in one-third of the children before the age of 3 the course was remarkably rapid. There was no difference in the residual activity of galactosylceramide galactosidase in LOKL compared to the early infantile form.

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Section: Introductionmentioning

confidence: 99%

Symptomatology of Late Onset Krabbe's Leukodystrophy: The European Experience

Lyon¹,

Hagberg²,

Evrard³

et al. 1991

Dev Neurosci

View full text Add to dashboard Cite

show abstract

“…The usual age of onset of symptoms of globoid cell leucodystrophy (GLD) is in early infancy (Krabbe's disease), but there are reports (Guillain, Bertrand, and Gruner, 1941;Christensen, Melchior, and Andersen, 1960;Liu, 1970) of late-onset forms suggesting clinical and genetic heterogeneity comparable to that seen in other heredodegenerative diseases of children, e.g. GM1and G,2-gangliosidoses.…”

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confidence: 99%