New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.

Abstract:

:In this report, we present the clinical and pathological details of a kindred of four individuals with a novel missense mutation (V272A) of the presenilin 1 gene (PSEN1) that experienced a subcortical dementia. The age of onset of symptoms ranged 26-36-year old, with an age at death of 36-46 years. Initial symptom was a marked mood disorder, with prominent parkinsonism in one case. The neuropsychological study, as well as the neuroimaging and PET in the proband were concordant with a subcortical dementia. The cerebral pathology showed in this patient, aside from the classical lesions of Alzheimer disease, Lewy bodies in cortex and substantia nigra, and widespread subcortical neuritic lesions. This clinical pattern and pathology expands the clinical spectrum of familial Alzheimer's disease and compel to include mutations of PSEN1 gene in the genetic study of subcortical dementia.

journal_name

Eur J Neurol

authors

Jimenez-Escrig A,Rabano A,Guerrero C,Simon J,Barquero MS,Güell I,Ginestal RC,Montero T,Orensanz L

doi

10.1111/j.1468-1331.2004.00865.x

subject

Has Abstract

pub_date

2004-10-01 00:00:00

pages

663-9

issue

10

eissn

1351-5101

issn

1468-1331

pii

ENE865

journal_volume

11

pub_type

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