Autosomal dominant XXXX with neuroaxonal spheroids.

@entity1 @entity75 @entity16 @entity508 @entity35114 @entity194 @entity302 @entity3067 @entity21 @entity62 @entity2055
OBJECTIVE: To provide clinical, MRI, and histopathologic findings in a rare @entity62 with autosomal dominant inheritance, so-called @entity35114 ( @entity35114 ). BACKGROUND: Progressive @entity62 often constitute a diagnostic dilemma in both @entity1 and adults. In some cases, histopathologic examination of brain tissue is required for a classifying diagnosis. METHODS: Clinical history, MRI, and autopsy findings were reviewed in three @entity1 with @entity35114 : a father, his daughter, and an unrelated @entity1 . RESULTS: Clinical history consisted of an adult-onset @entity16 with signs of @entity75 , @entity302 , @entity508 , @entity2055 , and mild @entity21 . MRI findings included @entity194 and @entity3067 white matter changes, most pronounced in the frontal and frontoparietal area with extension through the posterior limb of the internal capsule into the pyramidal tracts of the brainstem. Autopsy in two @entity1 revealed a @entity62 with frontoparietal and frontal preponderance and numerous neuroaxonal spheroids in the abnormal white matter. The pyramidal tracts were affected throughout the brainstem. CONCLUSION: Similar clinical and histopathologic findings have been reported in members of a Swedish pedigree. The homogeneity of the findings strongly suggests that @entity35114 is a distinct disease entity. In the absence of a biochemical or genetic marker, a definitive diagnosis requires histopathologic confirmation in one of the affected family members. Neuroaxonal spheroids.
