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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration.

A 34-year-old woman was initially seen because of a progressive neurological disorder suggestive of a spinocerebellar degeneration. This condition had a late infantile onset and was unassociated with visual impairment or dementia. Nerve conduction velocity was severely reduced. A left hemiparesis later developed. A computed tomographic scan revealed multiple periventricular hypodense lesions, suggestive of a leukodystrophy. Sural nerve biopsy demonstrated changes of a chronic demyelinating neuropathy, with inclusions typical of Krabbe's disease. This diagnosis was confirmed by the finding of reduced leukocyte galactocerebrosidase activity.[1]

References

  1. Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration. Thomas, P.K., Halpern, J.P., King, R.H., Patrick, D. Ann. Neurol. (1984) [Pubmed]
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