P Gjesdahl

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Increased concentration of CSF homocarnosine has recently been found in a family with spastic paraplegia. CSF homocarnosine was therefore determined in 13 patients from other families with familial spastic paraplegia. Also examined were seven patients from families where the constellation of symptoms and signs was more complex, but also comprised spastic(More)
Homocarnosine, the brain-specific dipeptide of gamma-aminobutyric acid (GABA) and histidine, was found to be elevated in the CSF, i.e. approximately 20 times the mean control level, in two brothers and one sister. All three were similarly afflicted, i.e. with a progressive spastic paraplegia, progressive mental deterioration and retinal pigmentation. A(More)
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