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Presenilin 1 Glu318Gly polymorphism: interpret with caution.
Jill S Goldman1, Julene K Johnson, Karen McElligott
1Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA 94143-1207, USA. jgoldman@memory.ucsf.edu
Archives of Neurology
|October 12, 2005
Summary
The presenilin 1 (PSEN1) Glu318Gly polymorphism's role in dementia is uncertain. This study found it in dementia patients but not consistently, suggesting it may not be a direct risk factor.
Area of Science:
- Neurogenetics
- Molecular Psychiatry
Background:
- The presenilin 1 (PSEN1) Glu318Gly polymorphism is debated as either a causal mutation or benign.
- Its presence in individuals with dementia and family history complicates genetic counseling regarding recurrence risk.
Observation:
- Two patients with presenile dementia and personality changes were identified.
- The PSEN1 Glu318Gly polymorphism was present in these patients and some family members.
- The polymorphism was notably absent in one symptomatic relative.
Findings:
- The PSEN1 Glu318Gly polymorphism was detected in patients with presenile dementia.
- Its inheritance pattern within families was inconsistent, appearing in some relatives but not others, including a symptomatic individual.
Implications:
- The Glu318Gly polymorphism may be associated with neurodegenerative disease risk, but its role remains unclear.
- Clinical interpretation of this polymorphism requires caution due to uncertain disease association.
- Families affected by dementia should be informed about the ambiguous significance of the PSEN1 Glu318Gly polymorphism.