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.
Dintchov Traykov
Latchezar
L
Department of Neurology, Medical University, Sofia, Bulgaria. traykov_l@yahoo.fr
Mehrabian
Shima
S
Van den Broeck
Marleen
M
Radoslavova Raycheva
Margarita
M
Cruts
Marc
M
Kirilova Jordanova
Albena
A
Van Broeckhoven
Christine
C
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