Overview

Pathogenicity: Parkinson's Disease : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease
Position: (GRCh38/hg38):Chr17:45962458 G>A
Position: (GRCh37/hg19):Chr17:44039824 G>A
dbSNP ID: rs115239819
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: GCT to ACT
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

Findings

The A41T variant was detected in one out of 188 individuals with Parkinson’s disease (Schulte et al., 2015). In this case, information relating to family history was not available. This individual presented with resting tremor and also developed bradykinesia, rigor, postural instability, and cognitive impairment. The variant was absent in 188 individuals affected by PD with dementia and in 376 controls.

Neuropathology

Unknown.

Biological Effect

Unknown.

Comments

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References

Paper Citations

1. Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.

Further Reading

No Available Further Reading