Neurologic impairment and imaging in HDLS patients
| HDLS mutation (proband ID) . | Gender . | Age, y . | Motor impairment . | Cognitive and memory impairment . | Histology . | Magnetic resonance imaging . | Positron emission tomography . |
|---|---|---|---|---|---|---|---|
| 2342C>T, A781V (667) | F | 22 | None | None | None | Hyperintensities | Not done |
| 1745T>C, L582P (692) | M | 47 | Wheelchair | Severe | Demyelination | Hyperintensities | Not done |
| 1897G>A, E633K (745) | F | 47 | Wheelchair | Severe | Demyelination | Hyperintensities | Hypometabolism |
| 2512G>C, V838L (766) | M | 58 | Wheelchair | Severe | Demyelination | Hyperintensities | Hypometabolism |
| HDLS mutation (proband ID) . | Gender . | Age, y . | Motor impairment . | Cognitive and memory impairment . | Histology . | Magnetic resonance imaging . | Positron emission tomography . |
|---|---|---|---|---|---|---|---|
| 2342C>T, A781V (667) | F | 22 | None | None | None | Hyperintensities | Not done |
| 1745T>C, L582P (692) | M | 47 | Wheelchair | Severe | Demyelination | Hyperintensities | Not done |
| 1897G>A, E633K (745) | F | 47 | Wheelchair | Severe | Demyelination | Hyperintensities | Hypometabolism |
| 2512G>C, V838L (766) | M | 58 | Wheelchair | Severe | Demyelination | Hyperintensities | Hypometabolism |
Data in Table 3 refer to the HDLS patients described in Table 1. No sensory impairment was seen in any of the HDLS patients.