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The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family
- Source :
- Neurobiology of Aging. 56:213.e7-213.e12
- Publication Year :
- 2017
- Publisher :
- Elsevier BV, 2017.
-
Abstract
- We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 generations. Detailed clinical, imaging and genetic assessment was performed. We highlighted the presence of unusual symptoms such as frontal executive syndrome, psychosis and spastic paraparesis in these patients. Spastic paraparesis has been reported in other PSEN1 mutations in adjacent codons, suggesting that the position of the genetic defect may affect the clinical expression, although this phenotype can occur in mutations throughout the whole PSEN1 gene. Brain magnetic resonance imaging showed diffuse cortical atrophy, but also atrophy of cerebellar lobules, mainly involving Crus I, in 2 patients without cerebellar motor deficits. These neuroimaging results were consistent with recent findings about the association between sporadic AD and distinct and circumscribed cerebellar atrophy. The present work acknowledged the novel PSEN1 pathogenic mutation M84V and might contribute to the ongoing debate about the involvement of cerebellum in AD.
- Subjects :
- Male
0301 basic medicine
Aging
Cerebellum
Psychosis
Pathology
medicine.medical_specialty
Neuroimaging
Presenilin
Executive Function
03 medical and health sciences
0302 clinical medicine
Atrophy
Alzheimer Disease
Presenilin-1
medicine
PSEN1
Humans
Genetic Predisposition to Disease
Genetic Association Studies
Aged
Genes, Dominant
Cerebral Cortex
Dysexecutive syndrome
General Neuroscience
Syndrome
Middle Aged
medicine.disease
Magnetic Resonance Imaging
Pedigree
030104 developmental biology
medicine.anatomical_structure
Psychotic Disorders
Mutation
Paraparesis, Spastic
Female
Cerebellar atrophy
Neurology (clinical)
Geriatrics and Gerontology
Alzheimer's disease
Psychology
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- ISSN :
- 01974580
- Volume :
- 56
- Database :
- OpenAIRE
- Journal :
- Neurobiology of Aging
- Accession number :
- edsair.doi.dedup.....98d3a04d28e6e5510ce322df3644080f