We analysed 32 CSF samples from patients with clinically defined diagnosis of PMD, with a confirmed PLP mutation and without confirmed mutations (PMLD, Pelizaeus-Merzbacher like Disease). Control CSF samples were collected after consent from 31 hospitalized patients, aged 1-10 years, free from dysmyelinating or metabolic disorders, in whom examination of CSF was indicated for other reasons. CSF was also collected from the following groups of patients:
- ULD group: patients with unclassified leukodystrophies (ULD);
- OLD group: patients with other leukodystrophies (OLD), including one patient with metachromatic leukodystrophy (MLD), 5 patients with vanishing white matter disease (VWMD), one patient with Alexander disease; one patient with phenylketonuria (PKU) and secondary demyelination;
- CD group: patients with Canavan disease (CD).
The amount of NAAG and NAA in the CSF was measured using two capillary electrophoresis systems: Beckman P/ACE 2100 and a Beckman Coulter P/ACE MDQ, according to Burlina et al}° Our detection limits for NAA and NAAG were 1.14 p.mol/L and 0.66 p.mol/L respectively, at a signal to noise ratio of approximately 10.
2.1. Statistical Analysis
Data were analyzed by Kruskall-Wallis test and Mann-Whitney U test. The probability level accepted for significance was p < 0.05.
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