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.