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Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)

Division of Neurology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain, alfredoroblesbayon{at}gmail.com

M.J. Sobrido, MD, PhD

Centro de Investigación en Red de Enfermedades Raras (CIBERER)-ISCIII, Santiago de Compostela, Spain, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain

M. García-Murias

Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain

J.M. Prieto, MD, PhD

Division of Neurology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

M. Lema, MD, PhD

Division of Neurology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

D. Santos, MD, PhD

Division of Neurology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

M. Paramo, MD, PhD

Division of Psychiatry, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain

Young onset dementia raises concern about familial and non degenerative dementias. We describe a patient with early dementia. At the age of 26, a woman developed symptoms of anorexia nervosa, at 30 a memory and attention deficit, and at 34 abnormal behavior with impulsivity, aggression, and dysexecutive disorder. At 36 she showed aphasia, stereotyped behavior, hyperreflexia, grasping reflex, urinary incontinence, myoclonus, and seizures. Blood and cerebrospinal fluid were normal. Brain computed tomography and single photon emission computed tomography showed diffuse cortico-subcortical atrophy and frontotemporoparietal hypoperfusion. A Leu424Val mutation was present in PSEN1 gene. PSEN1 mutations can produce Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies phenotypes, or a combination of them. It has been proposed that the mutation type and location may influence the molecular pathogenesis and thus PSEN1 would represent a molecular connexion between these entities. This case shows a novel PSEN1 mutation with outstanding amnesic and frontal symptoms.

Key Words: Alzheimer's disease • anorexia nervosa • fontotemporal dementia • mutation • presenilin 1

This version was published on February 1, 2009

American Journal of Alzheimer's Disease and Other Dementias®, Vol. 24, No. 1, 40-45 (2009)
DOI: 10.1177/1533317508324272


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