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NEUROLOGY 2007;69:79-83
© 2007 American Academy of Neurology

Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene

I. Gourfinkel-An, MD, PhD, C. Duyckaerts, MD, A. Camuzat, BS, C. Meyrignac, MD, P. Sonderegger, MD, M. Baulac, MD and A. Brice, MD

From the Pôle d’Epileptologie Clinique (I.G.-A., M.B.), Hôpital de la Salpêtrière, INSERM U 679 (former 289) (I.G.-A., C.D., A.C., A.B.), Laboratoire de Neuropathologie R. Escourolle (C.D.), Département de Génétique, Cytogénétique et Embryologie (A.B.), and Fédération de Neurologie (A.B.), Hôpital de la Salpêtrière, Paris, and Service de Médecine B (C.M.), Centre hospitalier intercommunal, Créteil, France; and Institute of Biochemistry (P.S.), University of Zürich, Switzerland.

Address correspondence and reprint requests to Dr. I. Gourfinkel-An, Pôle d’Epileptologie Clinique, Hôpital de la Salpêtrière, 47 Boulevard de l’Hôpital, 75651 Paris Cedex 13, France isabelle.an{at}psl.aphp.fr

Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum.

Supplemental data at www.neurology.org

*These authors contributed equally to this work.

Disclosure: The authors report no conflicts of interest.

Received February 16, 2006. Accepted in final form February 8, 2007.




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