[Presenting XXXX in adult neurolipidoses].

@entity16440 @entity146 @entity303 @entity10707 @entity1687 @entity73 @entity8431 @entity2314 @entity12030 @entity4741 @entity209 @entity8019
Neurolipidoses may present as @entity146 or @entity303 which may be isolated for a long time without neurological manifestations. Thus the relation with a @entity209 may be difficult to establish. In this survey, we wish to present our clinical and biological experience in relation with @entity16440 giving rise to neurolipidoses, a review of the literature, as well as the elements which allow to present a diagnostic strategy. We report mainly on @entity8431 , @entity10707 , @entity2314 , @entity1687 , @entity12030 , @entity8019 , @entity4741 . Psychiatric symptoms may overshadow subtle signs of @entity73 . Careful and persistent neurodiagnostic evaluation must be performed even in cases when CT and MRI scans are considered normal. Resistance to psychotropic drugs may be an element of orientation. The biological diagnosis is mainly biochemical. Although most of the genes involved have been cloned, many of the mutations are private, except for @entity8431 for which specific mutations may be related to adult cases and either with predominantly motor or predominantly cognitive and @entity146 manifestations. This review discusses also other @entity209 which may present as isolated or predominant cognitive and @entity146 manifestations.
