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TABLE 1: Summary of findings from prior MR spectroscopic studies of PMD
Study No. of Patients Age, y Genetics Technique^* Findings
Grodd et al, 1991 4 0.7–5.7 Not given SV MRS, ratios 2 patterns: increased Cho and decreased NAA levels or decreased Cho and normal NAA levels
Takanashi et al, 1997 2 5, 6 Point mutations: exon 5 (Pro²¹⁰(4)→Leu[CTA]), exon 2 (Leu⁴⁵[CTA]→Arg[CGA]) SV MRS, ratios Normal MRS results, trend for increased creatine levels
Lam et al, 1998 1 19 Not given SV MRS, quantitation Slightly decreased NAA level in basal ganglia
Spalice et al, 2000 2 1.5, 6 Connatal PMD, no mutation or duplication detected SV MRS, ratios Decreased Cho level
Bonavita et al, 2001 9 6–43 Duplication (n=1), mutations G431A (n=6) and K150N (n=2) MRSI, ratios Decreased NAA level
Garbern et al, 2002 2 11, 17 Deletion, mutation (G to A) MRS, MRSI, quantitation Decreased NAA level
Hobson et al, 2002 1 11 Deletion 19 base pairs intron 3 PLP1/DM20 SV MRS, ratios Increased Cho, decreased NAA levels
Takanashi et al, 2002 5 4–10 Duplication (classic PMD, mild form, n=4; severe connatal form, n = 1) SV MRS, quantitation Mildly increased NAA, creatine, and myo-inositol levels; normal Cho level
* MRS indicates MR spectroscopy; SV, single voxel.