Table 1.
Clinical and MRI characteristics of patients with X-linked adrenoleukodystrophy
| No. | Phenotype | Age (years) | Follow-up interval (months) | First NFS | Second NFS | First EDSS | Second EDSS | First MRI Loes | Second MRI Loes |
|---|---|---|---|---|---|---|---|---|---|
| 1 | CCALD | 5 | 2 | 5 | 19 | – | – | 16 | 19 |
| 2 | CCALD | 6 | 13 | 8 | 24 | – | – | 20 | 30 |
| 3 | CCALD* | 6 | 11 | 2 | 21 | – | – | 23 | 28 |
| 4 | CCALD* | 9 | 12 | 12 | 24 | – | – | 21 | 22 |
| 5 | CCALD | 10 | 4 | 0 | 0 | – | – | 3 | 3 |
| 6 | CCALD* | 12 | 24/29 | 1 | 4/4 | – | – | 12 | 15/15 |
| 7 | Asymptomatic | 3 | 17 | 0 | 0 | – | – | 0 | 0 |
| 8 | Asymptomatic | 4 | 28 | 0 | 0 | – | – | 0 | 0 |
| 9 | Asymptomatic | 6 | 6 | 0 | 0 | – | – | 0 | 0 |
| 10 | Asymptomatic | 8 | 36 | 0 | 0 | – | – | 0 | 0 |
| 11 | Asymptomatic | 16 | 14 | 0 | 0 | – | – | 0 | 0 |
| 12 | ACALD | 19 | 0 | – | – | 6 | – | 5 | – |
| 13 | ACALD | 29 | 13 | – | – | 2 | 2 | 7 | 9 |
| 14 | AMN | 47 | 40 | – | – | 3 | 3 | 1 | 1 |
| 15 | AMN | 50 | 0 | – | – | 2 | – | 0 | – |
| 16 | AMN | 53 | 0 | – | – | 8 | – | 0 | – |
| 17 | Heterozygotes | 28 | 20 | – | – | 3 | 3 | 0 | 0 |
| 18 | Heterozygotes | 39 | 0 | – | – | 0 | – | 0 | – |
| 19 | Heterozygotes | 39 | 0 | – | – | 0 | – | 0 | – |
| 20 | Heterozygotes | 74 | 0 | – | – | 4 | – | 0 | – |
*Post-haematopoietic stem cell transplantation. Only Patient 6 was studied before and after haematopoietic stem cell transplantation took place 15 months after first evaluation. There were two follow-up evaluations 9 and 14 months thereafter. Clinical and MRI characteristics of 20 patients with X-linked adrenoleukodystrophy. ACALD = adult cerebral adrenoleukodystrophy; AMN = adrenomyeloneuropathy; CCALD = childhood cerebral adrenoleukodystrophy; EDSS = Expanded Disability Status Scale; NFS = Neurologic Function Score. The severity of cerebral abnormality was assessed on sagittal T1- and axial T2-weighted brain MRI at baseline and on most recent follow-up examination with the adrenoleukodystrophy MRI (Loes) scale.