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Novel PSEN1 Mutation in a Bulgarian Patient With Very Early-Onset Alzheimer’s Disease, Spastic Paraparesis, and Extrapyramidal Signs

Department of Neurology, Medical University, Sofia, Bulgaria, traykov_l{at}yahoo.fr

Shima Mehrabian, MD, PhD

Department of Neurology, Medical University, Sofia, Bulgaria

Marleen Van den Broeck, MSc

Department of Molecular Medicine Center, Medical University, Sofia, Bulgaria, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium, Department of Neurology, Medical University, Sofia, Bulgaria

Margarita Radoslavova Raycheva, PhD

Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium

Marc Cruts, PhD

Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium

Albena Kirilova Jordanova, PhD

Department of Chemistry and Biochemistry, Medical University, Sofia, Bulgaria, Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium

Christine Van Broeckhoven, PhD, DSc

Laboratory of Neurogenetics, Institute Born-Bunge and University of Antwerp, Antwerpen, Belgium, Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium

We describe the phenotype of a Bulgarian early-onset Alzheimer’s disease (EOAD) family with 3 affected patients in 3 generations. In the proband, a novel L381V mutation in the presenilin1 (PSEN1) gene was identified. In this patient, the first symptoms were noticed at the age of 32 years and she died at the age of 37 years. The EOAD phenotype caused by the novel L381V mutation in the PSEN1 gene presented clinically, by a very early onset in the proband, rapid progression of dementia, spastic paraparesis, and extrapyramidal signs, as atypical clinical signs in Alzheimer’s disease patients.

Key Words: early onset Alzheimer’s disease • presenilin 1 • spastic paraparesis • parkinsonism

American Journal of Alzheimer's Disease and Other Dementias®, Vol. 24, No. 5, 404-407 (2009)
DOI: 10.1177/1533317509341464


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