Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73653571 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: GCC to GTC
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 6

Findings

This mutation was described in a 75-year-old man who met NINCDS-ADRDA criteria for probable AD (Roeber et al., 2015). In addition to memory problems, his symptoms included language and speech impairments, and motor symptoms including dysphagia, spasticity, brisk reflexes, and recurrent falls. The patient had a positive family history for dementia, but specifics were not reported.

Neuropathology

Unknown. Cerebral MRI showed generalized atrophy of the brain with pronounced involvement of the anterior temporal lobe, including the hippocampus.

Biological Effect

Unknown. In silico this mutation has been predicted to be possibly damaging by PolyPhen-2.

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References

Paper Citations

1. Roeber S, Müller-Sarnowski F, Kress J, Edbauer D, Kuhlmann T, Tüttelmann F, Schindler C, Winter P, Arzberger T, Müller U, Danek A, Kretzschmar HA. Three novel presenilin 1 mutations marking the wide spectrum of age at onset and clinical patterns in familial Alzheimer's disease. J Neural Transm (Vienna). 2015 Dec;122(12):1715-9. Epub 2015 Sep 8 PubMed.

Further Reading

No Available Further Reading