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.
|Number of pages||4|
|Journal||Canadian Journal of Neurological Sciences|
|Publication status||Published - Aug 2003|
ASJC Scopus subject areas
- Clinical Neurology