BACKGROUND: Gerstmann-Str  ussler-Scheinker disease is an @entity74 . The clinical features include @entity2055 , @entity303 , @entity3500 and extrapyramidal signs. METHODS: We report a new large Italian family affected by Gerstmann-Str  ussler-Scheinker disease. RESULTS: The four generation pedigree includes 11 @entity1 . The mean age at onset +/- SD was 41.4 +/- 16.2 years. Mean disease duration to @entity204 in four @entity1 was 5.5 +/- 1.7 years. Two clinical patterns were evident: @entity73 with scarce neurological features or @entity2055 followed by @entity73 . Molecular analysis showed @entity31967 mutation in @entity3669 gene. CONCLUSION: Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.

Variable phenotype in a XXXX Gerstmann-Str  ussler-Scheinker Italian family.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity303 :: ('MESH:D003704', 'Disease') :: ['dementia'] @entity3500 :: ('MESH:D020336', 'Disease') :: ['spastic paraparesis'] @entity73 :: ('MESH:D003072', 'Disease') :: ['cognitive impairment'] @entity31967 :: ('p|SUB|P|102|L', 'ProteinMutation') :: ['P102L'] @entity3669 :: ('5621', 'Gene') :: ['PRNP'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant prion disease'] @entity204 :: ('MESH:D003643', 'Disease') :: ['death'] @entity2055 :: ('MESH:D001259', 'Disease') :: ['ataxia']
@entity31967 :: (p|SUB|P|102|L,ProteinMutation) :: ['P102L']
