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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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