New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism
| Autor: | Adriano Jimenez-Escrig, Maria-Sagrario Barquero, Alberto Rábano, R. C. Ginestal, L M Orensanz, T. Montero, J. Simon, I. Güell, C. Guerrero |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Proband
Adult Pathology medicine.medical_specialty Parkinson's disease DNA Mutational Analysis Subcortical dementia Mutation Missense Synucleins Magnetic Resonance Imaging Cine Nerve Tissue Proteins Neuropsychological Tests Presenilin Parkinsonian Disorders medicine PSEN1 Presenilin-1 Humans Family Health Alanine Amyloid beta-Peptides business.industry Parkinsonism Brain Membrane Proteins Neurofibrillary Tangles Valine Middle Aged medicine.disease Immunohistochemistry Peptide Fragments Neurology Postmortem Changes Dementia Female Lewy Bodies Neurology (clinical) Age of onset Alzheimer's disease business |
| Zdroj: | European journal of neurology. 11(10) |
| ISSN: | 1351-5101 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text