Neuropsychological functions in variant XXXX with spastic paraparesis.

@entity1 @entity227 @entity2708 @entity146 @entity73 @entity3666 @entity195 @entity413
Few data exist on the effects of specific @entity195 ( @entity195 )-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant @entity195 (VarAD) due to a deletion of the @entity3666 ( @entity3666 ) gene, encompassing exon 9. The disease was neuropathologically characterized by the presence of large, unusual, " @entity2708 wool" plaques (CWP). Four surviving @entity1 were prospectively tested, and retrospective neuropsychological data were collected from additional four deceased @entity1 . The neuropsychological evaluation was based on tests of @entity227 , abstract thinking, and visuoconstructive and spatial functions. In addition, @entity146 symptoms were evaluated. In four @entity1 , brain @entity413 metabolism was examined by positron emission tomography (PET). PET showed temporoparietal hypometabolism typical of @entity195 . In addition, variable patterns of hypometabolism (hemispherical asymmetry and occipital accentuation) were related to individual deficits of cognitive performance. However, all these early-onset @entity1 (age range 43-63 years) with a deletion mutation of @entity3666 gene showed prominent @entity73 in visuoconstructive and intellectual functions.
