MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms

A, Coronal formalin-fixed section at the level of the basal ganglia of a 69-year-old man. White matter is reduced and there are irregularly shaped miscolored areas of demyelination (asterisk).

B, Whole-brain microscopic section from the same level. Widespread diffuse loss of myelin (pallor of the blue color) in the centrum semiovale bilaterally (asterisk, arrows) with sparing of the U fibers (arrows). The myelin is better preserved in the temporal lobes (T). The Sylvian fissures are widened and the lateral ventricles moderately dilated, which indicates mild brain atrophy.

C–F, Consecutive sections from the parietal white matter of a 56-year-old woman. C, Diffuse loss of myelin. Note the less severe pallor around the blood vessel (bv), which indicates that the myelin loss is not perivascular as in multiple sclerosis. Luxol fast blue-cresyl violet (LFB-CV) staining. D, There is only minor astrogliosis in the demyelinated area. The astrocytes (brown cells) are rather plump with irregular processes. Anti-glial fibrillar acidic protein (GFAP) + hematoxylin counterstain. E, No lymphocyte infiltrates are present, but scattered macrophages (brown cells) are seen in the demyelinated area. Anti-CD68 + hematoxylin counterstain. The number of oligodendroglial nuclei (blue) in panels D and E appears the same irrespective of the intensity of the myelin stain (C). F, The density of neurofilament positive axons did not appear to be affected by demyelination. Anti-neurofilament + hematoxylin counterstain. Scale bar, 100 μm.

G, Cerebellum of the 69-year-old man. Severe diffuse loss of myelin in the cerebellar white matter, more marked centrally (C) than in the folia (asterisk). The number of Purkinje cells (2 preserved cells marked with arrows) is greatly decreased, but there is only slightly increased number of reactive Bergmann astrocytes. LFB-CV. Scale bar, 100 μm.