Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs.
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.
Department of Neurology, Medical University, Sofia, Bulgaria. traykov_l@yahoo.fr
Latchezar
L
Dintchov Traykov
Shima
S
Mehrabian
Marleen
M
Van den Broeck
Margarita
M
Radoslavova Raycheva
Marc
M
Cruts
Albena
A
Kirilova Jordanova
Christine
C
Van Broeckhoven
D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D001480:Basal Ganglia Diseases / Q000235:genetics*; D002031:Bulgaria; D005192:Family Health; D005260:Female; D006801:Humans; D020336:Paraparesis, Spastic / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D053764:Presenilin-1 / Q000235:genetics*
C508853:PSEN1 protein, human; D053764:Presenilin-1