Dementia, pyramidal system involvement, and leukoencephalopathy with a presenilin 1 mutation.
The authors describe four members of a family with a novel P284S presenilin 1 mutation presenting a clinical phenotype characterized by early-onset dementia, paratetraparesis, dysarthria, dysphagia, and marked involvement of brain white matter. The distinctive clinical and MRI findings in the family studied extend the phenotypic spectrum of dementia associated with mutation of the PS1 gene.
Marrosu
M G
MG
The Centro Sclerosi Multipla, Dipartimento di Scienze Cardiovascolari e Neurologiche, University of Cagliari, Italy. gmarrosu@unica.it
Floris
G
G
Costa
G
G
Schirru
L
L
Spinicci
G
G
Cherchi
M V
MV
Mura
M
M
Mascia
M G
MG
Cocco
E
E
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology* / Q000503:physiopathology; D001925:Brain Damage, Chronic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003680:Deglutition Disorders / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D003704:Dementia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D004401:Dysarthria / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D053764:Presenilin-1; D011782:Quadriplegia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1