Overview

Pathogenicity: Frontotemporal Dementia : Unclear Pathogenicity
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37/hg19
Position: Chr17:44051754 T>C
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GTG to GCG
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 3

Findings

This mutation was reported in a 41-year-old man who developed memory impairment and disturbed behavior at age 35. He was hospitalized at age 40, developed seizures, and became mute. A sister developed a similar dementia syndrome characterized by insidious onset, loss of social awareness, and absence of insight, starting around age 31 with personality changes and behavioral disturbances. A paternal aunt and the paternal grandmother were affected by Alzheimer’s disease and Parkinson’s disease, respectively. Both affected siblings were found to carry the previously described PSEN2 mutation R62H. In addition, the brother carried a novel V75A mutation in MAPT. Both the MAPT and PSEN2 mutations were absent in two healthy brothers and 200 control samples, but the pathogenic roles of these variants are unclear (Gallo et al., 2010).

Neuropathology

Frontotemporal atrophy was seen as well as fronto-mesial and parietal left hypoperfusion by CT, MRI and SPECT (Gallo et al., 2010).

Biological Effect

Unknown.

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References

Paper Citations

1. Gallo M, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia. Neurol Sci. 2010 Feb;31(1):65-70. Epub 2009 Sep 19 PubMed.

Other Citations

1. R62H

Further Reading

Learn More

1. Alzheimer Disease & Frontotemporal Dementia Mutation Database