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Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family
Giuseppe De Michele1, Maurizio Pocchiari, Rossella Petraroli
1Department of Neurological Sciences, Federico II University, Naples, Italy.
Background:
Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs.
Methods:
We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease.
Results:
The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years. Mean disease duration to death in four patients was 5.5 +/- 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP 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.