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Variable Phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian Family

Published online by Cambridge University Press:  02 December 2014

Giuseppe De Michele
Affiliation:
Department of Neurological Sciences, Federico II University, Naples
Maurizio Pocchiari
Affiliation:
Laboratory of Virology, Istituto Superiore di Sanità, Rome
Rossella Petraroli
Affiliation:
Laboratory of Virology, Istituto Superiore di Sanità, Rome
Mario Manfredi
Affiliation:
Department of Neurological Sciences, La Sapienza University, Rome Neuromed Institute, Isernia Department of Pathology and Laboratory Medicine, Indiana University, School of Medicine, Indianapolis, USA
Giorgio Caneve
Affiliation:
Department of Neurological Sciences, Federico II University, Naples Neuromed Institute, Isernia
Giovanni Coppola
Affiliation:
Department of Neurological Sciences, Federico II University, Naples Neuromed Institute, Isernia Neurology Section, Feltre Hospital, Belluno
Carlo Casali
Affiliation:
Department of Neurological Sciences, La Sapienza University, Rome
Francesco Saccà
Affiliation:
Department of Neurological Sciences, Federico II University, Naples
Pedro Piccardo
Affiliation:
Neurology Section, Feltre Hospital, Belluno Department of Pathology and Laboratory Medicine, Indiana University, School of Medicine, Indianapolis, USA
Elena Salvatore
Affiliation:
Department of Neurological Sciences, Federico II University, Naples
Alfredo Berardelli
Affiliation:
Department of Neurological Sciences, La Sapienza University, Rome Neuromed Institute, Isernia Department of Pathology and Laboratory Medicine, Indiana University, School of Medicine, Indianapolis, USA
Marcello Orio
Affiliation:
Department of Neurological Sciences, Federico II University, Naples
Fabrizio Barbieri
Affiliation:
Department of Neurological Sciences, Federico II University, Naples
Bernardino Ghetti
Affiliation:
Neurology Section, Feltre Hospital, Belluno Department of Pathology and Laboratory Medicine, Indiana University, School of Medicine, Indianapolis, USA
Alessandro Filla
Affiliation:
Department of Neurological Sciences, Federico II University, Naples
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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.

Résumé:

RÉSUMÉ: Introduction:

La maladie de Gerstmann-Strâussler-Scheinker est une maladie à prion à transmission autosomique dominante. Les manifestations cliniques de la maladie sont de l’ataxie, une démence, une paraparésie spastique et des signes extrapyramidaux.

Méthodes:

Nous décrivons une grande famille italienne atteinte de maladie de Gerstmann-Sträussler-Scheinker, jamais rapportée antérieurement.

Résultats:

L’arbre généalogique comprend 11 patients répartis sur 4 générations. L’âge de début moyen était de 41,4 ± 16,2 ans. La durée moyenne de la maladie jusqu’au décès chez quatre patients était de 6,2 ± 1,9 ans. Deux tableaux cliniques étaient évidents: détérioration cognitive avec peu de manifestations neurologiques ou ataxie suivie de détérioration cognitive. L’analyse moléculaire a montré la présence de la mutation P102L dans le gène PRNP.

Conclusions:

Trois familles italiennes ont été rapportées jusqu’à maintenant. La variabilité du phénotype a déjà été rapportée et ne semble pas en relation avec le polymorphisme du codon 129.

Type
Research Article
Copyright
Copyright © The Canadian Journal of Neurological 2003

References

1. Ghetti, B, Dlouhy, SR, Giaccone, G, et al. Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathol 1995; 5: 6175.CrossRefGoogle ScholarPubMed
2. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: {176640}: {3/5/2002}. World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/ Google ScholarPubMed
3. Majtenyi, C, Brown, P, Cervenakova, L, Goldfarb, LG, Tateishi, J. A three-sister sibship of Gerstmann-Sträussler-Scheinker disease with a CJD phenotype. Neurology 2000; 54: 21332137.CrossRefGoogle ScholarPubMed
4. Barbanti, P, Fabbrini, G, Salvatore, M, et al. Polymorphysm at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation). Neurology 1996; 47: 734741.CrossRefGoogle Scholar
5. Kretzschmar, HA, Kufer, P, Riethmüller, G, et al. Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. Neurology 1992; 42: 809810.CrossRefGoogle Scholar
6. Young, K, Jones, CK, Piccardo, P, et al. Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients. Neurology 1995; 45: 11271134.CrossRefGoogle ScholarPubMed
7. Tanaka, Y, Minematsu, K, Moriyasu, H, et al. A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease. J Neurol Neurosurg Psychiatry 1997; 62: 454457.CrossRefGoogle ScholarPubMed
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