Overview

Pathogenicity: Frontotemporal Dementia : Pathogenic
Clinical Phenotype: Frontotemporal Dementia
Position: (GRCh38/hg38):Chr17:46010373 A>G
Position: (GRCh37/hg19):Chr17:44087739 A>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: AAT to GAT
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 10

Findings

This mutation was detected in a Dutch individual diagnosed with early onset frontotemporal dementia (Cohn-Hokke et al., 2014). Symptoms started at age 49, and included disinhibition, stereotyped and compulsive behavior, language impairment, and memory loss. Death occurred at age 62. Although segregation with disease could not be determined, this individual had a strong family history of dementia, consistent with autosomal-dominant transmission.

Neuropathology

Unknown. Imaging showed temporal atrophy.

Biological Effect

Unknown.

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References

Paper Citations

1. Cohn-Hokke PE, Wong TH, Rizzu P, Breedveld G, van der Flier WM, Scheltens P, Baas F, Heutink P, Meijers-Heijboer EJ, van Swieten JC, Pijnenburg YA. Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort. J Neurol. 2014 Nov;261(11):2085-92. Epub 2014 Aug 10 PubMed.

Further Reading

No Available Further Reading