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Céline Basset-Leobon, MD; Emmanuelle Uro-Coste, MD, PhD; Katell Peoc’h, PharmD, PhD; Stéphane Haik, MD, PhD; Véronique Sazdovitch, MD; Mathieu Rigal, MD; Olivier Andreoletti, DVM, PhD; Jean-Jacques Hauw, MD; Marie-Bernadette Delisle, MD, PhD

Arch Neurol. 2006;63:449-452.

Objective  To report the clinical and neuropathological features in the first patient seen, to our knowledge, with familial Creutzfeldt-Jakob disease and an R208H mutation associated with a Val/Val homozygosity at codon 129 in the prion protein gene (PRNP) and a type 2 protease-resistant prion protein.

Patient and Results  A 61-year-old man with a long-standing history of memory loss and emotional disorders had an obvious behavioral change. Then he developed cerebellar ataxia, followed by cognitive decline. He had no myoclonus. Electroencephalography showed slow activity, and 14-3-3 protein detection was negative. Finally, the patient developed akinetic mutism and died 7 months after the onset of ataxia. Neuropathological examination showed severe spongiform changes in the frontal cortex and striatum and gliosis in the striatum and thalamus. Kuru plaques were noted in the cerebellum, notably in the molecular layer. Immunohistochemical findings showed granular, synaptic, perineuronal, and perivacuolar staining with antiprion antibodies. Kuru plaques were also stained.

Conclusion  This study strengthens the linkage of the R208H mutation to Creutzfeldt-Jakob disease and points to some particular features such as Kuru plaques and long-standing psychiatric signs.

Author Affiliations: Institut national de la santé et de la recherche médicale (INSERM) U466 (Drs Basset-Leobon, Uro-Coste, and Delisle) and Departments of Pathology (Drs Basset-Leobon, Uro-Coste, and Delisle) and Neurology (Dr Rigal), Rangueil Hospital, and National Veterinary School and Unité Mixte de Recherche Institut National de Recherche Agronomique–Ecole Nationale Vétérinaire de Toulouse 1225 (Dr Andreoletti), Toulouse, France; Service de Biochimie Hopital Lariboisière (Dr Peoc’h) and Neuropathology Laboratory (Drs Haik, Sazdovitch, and Hauw), Pitié-Salpétrière Hospital, Paris, France.

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