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Neurology 2000;54:1641-1646
© 2000 American Academy of Neurology
Articles

Neuropathologic variants of sporadic Creutzfeldt–Jakob disease and codon 129 of PrP gene

J.-J. Hauw, MD, V. Sazdovitch, MD, J.-L. Laplanche, PhD, K. Peoc’h, PharmD, N. Kopp, MD, J. Kemeny, MD, N. Privat, BA, N. Delasnerie-Lauprêtre, MD, J. P. Brandel, MD, PhD, J. P. Deslys, MD, PhD, D. Dormont, MD and A. Alpérovitch, MD

From the Raymond Escourolle Neuropathology Laboratory (Drs. Hauw and Sazdovitch, and N. Privat) and INSERM U 360 (Drs. Hauw, Sazdovitch, Delasnerie-Lauprêtre, Brandel, and Alpérovitch, and N. Privat), Pitié-Salpêtrière Hospital, Association Claude Bernard, Pierre et Marie Curie University, Paris; Central Laboratory of Biochemistry (Drs. Laplanche and Peoc’h), Lariboisière Hospital, Association Claude Bernard, Paris; Hôpital Neurologique (Dr. Kopp), Lyon 2 University, Lyon; Pathology Department (Dr. Kemeny), Clermont-Ferrand University Hospital, Clermont-Ferrand; and CEA, CRSSA (Drs. Deslys and Dormont), Fontenay aux Roses, France.

Address correspondence and reprint requests to Pr. J.-J. Hauw, Laboratoire de Neuropathologie Raymond Escourolle, Hôpital de la Salpêtrière, 47, Bd. de l’Hôpital, 75013 Paris, France; e-mail: jean-jacques.hauw{at}psl.ap-hop-paris.fr

OBJECTIVES: To determine the contribution of methionine/valine (Met/Val) polymorphism at codon 129 of the prion protein (PrP) gene in the neuropathologic pattern and mechanisms of lesion development in sporadic Creutzfeldt–Jakob disease.

BACKGROUND: Creutzfeldt–Jakob disease is a transmissible spongiform encephalopathy characterized by a conformational change of PrP and a variety of PrP deposits in the brain, some of which aggregate into amyloid plaques.

METHODS: The authors semiquantitatively assessed neuropathologic lesions and performed PrP immunolabeling in 70 patients (39 Met/Met, 11 Met/Val, 20 Val/Val) who had died in France between 1994 and 1998.

RESULTS: Met/Met cases (mild lesions mostly involving the occipital areas, low PrP load, few focal PrP nonamyloid deposits, no amyloid plaques) contrasted with Met/Val cases (marked lesions especially in the parahippocampal gyrus, high PrP load, numerous amyloid plaques) and with Val/Val cases (younger patients, longer course of disease: 11.5 ± 3 months, and distinct neuropathology: severe lesions heavily involving the hippocampal formation and basal ganglia, high PrP load, numerous focal nonamyloid deposits, rare amyloid plaques). The course of Val/Val patients younger than age 55 was particularly long (19.9 ± 7 months), and the isocortex bore the brunt of the pathology, suggesting a distinct variety.

CONCLUSIONS: Polymorphism at codon 129 modulates the phenotype of sporadic Creutzfeldt–Jakob disease. The Val genotype enhances the production of proteinase-resistant PrP, and the Met/Val genotype facilitates its aggregation into amyloid plaques.

Key words: Creutzfeldt–Jakob disease—Prion protein genotype—Neuropathology.




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