NR AOJS
AU de Michele,G.; Pocchiari,M.; Petraroli,R.; Manfredi,M.; Caneve,G.; Coppola,G.; Casali,C.; Sacca,F.; Piccardo,P.; Salvatore,E.; Berardelli,A.; Orio,M.; Barbieri,F.; Ghetti,B.; Filla,A.
TI Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family
QU Canadian Journal of Neurological Sciences 2003 Aug; 30(3): 233-6
PT journal article
AB 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.
MH Adult; Aged; Amyloid/*genetics; Ataxia/etiology; Case Report; Cerebellum/pathology; Cognition Disorders/etiology; Female; Gerstmann-Sträussler-Scheinker; Disease/complications/diagnosis/*genetics/pathology; Human; Italy; Magnetic Resonance Imaging; Male; *Mutation; Pedigree; Phenotype; Protein Precursors/*genetics; Support, Non-U.S. Gov't
AD Department of Neurological Sciences, Federico II University, Naples, Italy.
SP englisch
PO Kanada