@entity12030 is the rare, adult-onset form of the @entity12030 ( @entity12030 ). Two clinical Kufs' phenotypes have been described, one featuring generalized @entity410 and the other characterized by @entity303 . Autosomal dominant inheritance of @entity12030 has been reported for only two families. The genetic and molecular defects underlying @entity12030 are unknown. We report a third family with apparent @entity74 in a family of English ancestry. Ten individuals (five @entity1 , five @entity1 ) have been affected over five generations. Age of onset typically is in the fourth decade of life and is heralded by @entity410 . Clinical and neuropsychological assessments in several affected individuals, however, confirm the presence of @entity303 and follow-up evaluations suggest that @entity303 is the primary disabling feature of the illness. @entity4681 also are frequent. Neuropathological examination (three cases) documents the presence of neuronal lipopigment accumulation consistent with @entity12030 . The combination of @entity303 and @entity410 in this and two other reported families with @entity74 suggest that this entity represents a distinctive clinicopathological entity. @entity303 is prominent but is almost always associated with generalized @entity410 and @entity132 early in the disease course. @entity12030 should be considered in the differential diagnosis of early onset, atypical @entity303 .

XXXX : a cause of early onset @entity303 .

@entity1 :: ('9606', 'Species') :: ['women', 'men'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizures', 'tonic-clonic seizures'] @entity132 :: ('MESH:D010468', 'Disease') :: ['motoric disturbances'] @entity303 :: ('MESH:D003704', 'Disease') :: ['Dementia', 'dementia'] @entity4681 :: ('MESH:D016472', 'Disease') :: ['Motor abnormalities'] @entity12030 :: ('MESH:D009472', 'Disease') :: ['neuronal ceroid-lipofuscinoses', 'NCL', "Kufs' disease"] @entity74 :: ('MESH:D030342', 'Disease') :: ["autosomal dominant Kufs' disease"]
@entity74 :: (MESH:D030342,Disease) :: ['Autosomal dominant Kufs' disease']
