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A presenilin 1 R278I mutation presenting with language impairment.
A K Godbolt1, J A Beck, J Collinge
1Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, London, UK.
Neurology
|November 10, 2004
Summary
Novel mutations in Presenilin (PSEN)1 gene cause autosomal dominant Alzheimer disease (AD). A new PSEN1 mutation (R278I) presented with language deficits, suggesting broader clinical presentations of familial dementia.
Area of Science:
- Neurogenetics
- Neurology
- Molecular Biology
Background:
- Presenilin (PSEN)1 mutations are a primary cause of autosomal dominant Alzheimer disease (AD).
- The full clinical spectrum associated with PSEN1 mutations remains incompletely defined.
- Familial dementia cases often present with typical Alzheimer disease (AD) clinical features.
Observation:
- Two individuals from a family exhibited a novel PSEN1 mutation, R278I.
- These individuals presented with prominent language impairment.
- Memory functions were relatively preserved in these affected individuals.
Findings:
- Identified a novel PSEN1 mutation (R278I) associated with a distinct clinical phenotype.
- The R278I mutation manifested as language deficits with relative sparing of memory.
- This case expands the known clinical variability of PSEN1-related dementia.
Implications:
- Suggests that genetic screening for PSEN1 mutations should be considered in familial dementia cases.
- Highlights the importance of considering non-typical clinical presentations in diagnosing hereditary neurodegenerative diseases.
- Broadens the understanding of genotype-phenotype correlations in autosomal dominant Alzheimer disease.