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Can J Neurol Sci. 2003 Aug;30(3):233-6.

Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.

Author information

1
Department of Neurological Sciences, Federico II University, Naples, Italy.

Abstract

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.

PMID:
12945948
[Indexed for MEDLINE]

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