Mutations

PSEN1 L166del

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Genomic Mutation Name (MET1): g.38793_38795delCTT
Genomic Mutation Name (NT1): g.55398_55400delCCT
dbSNP ID: rs63751458
Coding/Non-Coding: Coding
Genomic Region: Exon 6
Mutation Type: Deletion
Codon Change: CTT to ---

Findings

This deletion of three nucleotides (one amino acid) was detected in a woman who developed insidious onset of memory impairment at age 38 (Knight et al., 2007). Her general short-term memory was affected and the report noted particular difficulties with topographical memory (the ability to navigate around a familiar environment) as well as in the ability to comprehend numbers and arithmetic. She did not have myoclonus or extrapyramidal signs. Her mother had died at the age of 46 with dementia, after suffering from progressive memory impairment from an unknown age. The patient's father had a diagnosis of vascular dementia at age 83 years. Segregation with disease could not be assessed as DNA was available only from the patient; however, it was noted that the deletion was absent in 100 normal controls.

Neuropathology

Unknown. MRI showed generalized, symmetrical cerebral atrophy, which was most prominent in the medial temporal lobes (Knight et al., 2007).

Biological Effect

Unknown.

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References

Paper Citations

  1. . A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease. Eur J Neurol. 2007 Jul;14(7):829-31. PubMed.

Further Reading

Learn More

Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . A novel presenilin 1 deletion (p.L166del) associated with early onset familial Alzheimer's disease. Eur J Neurol. 2007 Jul;14(7):829-31. PubMed.

Other mutations at this position

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