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NEUROLOGY 2005;64:1455-1457
© 2005 American Academy of Neurology
Brief Communications

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease

M. -M. Rodriguez, MD, K. Peoc’h, PharmD, PhD, S. Haïk, MD, PhD, C. Bouchet, PharmD, L. Vernengo, MD, G. Mañana, MD, R. Salamano, MD, L. Carrasco, MD, M. Lenne, BSc, P. Beaudry, MD, J. -M. Launay, PharmD, PhD and J. -L. Laplanche, PharmD, PhD

Departamento de Genetica (Drs. Rodriguez and Vernengo), Facultad de Medicina, Montevideo, Uruguay; Service de Biochimie et Biologie Moléculaire (Dr. Peoc’h, Bouchet, Beaudry, Launay, and Laplanche and M. Lenne), Hôpital Lariboisière, Paris, France; EA 3621 Biologie des Maladies à Prions et Régulations Cellulaires (Drs. Peoc’h, Beaudry, Launay, and Laplanche), Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France; Service de Neuropathologie R. Escourolle (Dr. Haïk) and U360 INSERM Hôpital de la Pitié-Salpêtrière, Paris, France; Instituto de Neurología (Drs. Mañana and Carrasco), Hospital de Clínicas, Facultad de Medicina, Montevideo, Uruguay; and Servicio de Neurología y Neurocirugía (Dr. Salamano), Hospital Maciel, Montevideo, Uruguay.

Address correspondence and reprint requests to Dr. Jean-Louis Laplanche, Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, 2 rue A. Paré, 75475 Paris Cedex 10, France; e-mail: jean-louis.laplanche{at}lrb.ap-hop-paris.fr

Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease. Affected individuals were characterized by an early age at onset, initial neuropsychiatric symptoms, late dementia with prominent pyramidal and extrapyramidal symptoms, and long disease duration.

Received March 3, 2004. Accepted in final form January 13, 2005.




This article has been cited by other articles:


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Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene.
Arch Neurol, July 1, 2006; 63(7): 1016 - 1021.
[Abstract] [Full Text] [PDF]


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