autosomal dominant adult-onset leukodystrophy
MIM.169500 5q23.3-q31.1
Autosomal dominant adult-onset leukodystrophy can be caused by a tandem genomic duplication resulting in an extra copy of the LMNB1 gene (MIM.150340).
Synopsis
destruction of cerebral white matter
large numbers of axonal spheroids and pigmented glia in the fronto-temporal lobes
cerebral brown coloration
decreased volume of white matter in the frontal and temporal lobes as well as corpus callosum
marked loss of myelin and axons
abundant axonal spheroids without apparent neuronal loss
glial cells containing pigments and stained by Sudan III and PAS in the white matter lesions
Differential diagnosis
hereditary diffuse leukodystrophy with spheroids (HDLS)
pigmentary type of orthochromatic leukodystrophy
References
Itoh K, Shiga K, Shimizu K, Muranishi M, Nakagawa M, Fushiki S.Autosomal dominant leukodystrophy with axonal spheroids and pigmented glia: clinical and neuropathological characteristics.Acta Neuropathol. 2006 Jan;111(1):39-45. PMID: 16328511