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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is an autosomal dominant leukoencephalopathy related to CSFIR gene mutations. A growing number of clinicoradiologic phenotypes have been described. In this study, we analyzed brain imaging findings in 16 patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia to refine radiologic diagnostic clues. T2/FLAIR white matter hyperintensities were present in all patients with frontal or frontoparietal predilection, with asymmetric distribution in more than one-third. Brain atrophy and callosal involvement were almost constant, and corticospinal tract involvement was frequent. Moreover, deep white matter hyperintense dots on DWI and deep punctate calcifications on CT were often found. |
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adult-onset leukodystrophy,with neuroaxonal spheroids
axonal spheroid
calcification,intracranial
calcifications,intracranial,punctate
CAT scan
CAT scan,abnormal
cerebral cortical atrophy
corpus callosum,thinning
differential diagnosis
familial
gene mutation
genetic neurologic disorders
leukoencephalopathy
leukoencephalopathy,adult onset,sporadic
mimics
MRI,abnormal
MRI,diffusion weighted
neuroaxonal leukodystrophy
pyramidal tract
review article
white matter disease
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