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(Stroke. 2009;40:e11.)
© 2009 American Heart Association, Inc.

Case Reports

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

Dimitri Renard, MD; Genevieve Fourcade, MD; Didier Milhaud, MD; Didier Bessis, MD; Vera Esteves-Vieira; Amandine Boyer; Patrice Roll, MD, PhD; Patrice Bourgeois, PhD; Nicolas Levy, MD, PhD Annachiara De Sandre-Giovannoli, MD, PhD

From Department of Neurology (D.R., G.F., D.M.), Department of Dermatology (D.B.), CHU Montpellier, Hôpital Gui de Chauliac, Montpellier, France; Laboratoire de Génétique Moléculaire (V.E.-V., A.B., P.B., N.L., A.D.S.-G.), Département de Génétique Médicale, Hôpital d’Enfants la Timone, Marseille, France; Laboratoire de Biologie Cellulaire (P.R.), Hôpital la Conception, Marseille, France; INSERM UMR_S910 (N.L., A.D.S.-G.), Faculté de Médecine de Marseille, Marseille.

Correspondence to D. Renard, MD, Department of Neurology, CHU Nîmes, Hôpital Caremeau, Place du Pr Debré, 30029 Nîmes Cedex 4, France. E-mail dimitrirenard{at}hotmail.com

Background and Purpose— Laminopathies arise through mutations in genes encoding Lamin A/C (LMNA) or associated proteins. They cause 4 different groups of disorders with diverse severity and often overlapping features: diseases of striated muscle (leading to muscular or cardiac involvement), peripheral neuropathy, lipodystrophy syndromes, and accelerated aging disorders.

Summary of Case— We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation.

Conclusions— In young patients with ischemic events and a positive family history, other progeroid features have to be searched and LMNA testing has to be considered, allowing for genetic counseling and presymptomatic testing of at-risk relatives.

Key Words: lamin • laminopathies • progeroid • Werner syndrome • ischemic