Overview

Pathogenicity: Parkinson's Disease Dementia : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease Dementia
Reference Assembly: GRCh37/hg19
Position: Chr17:44039716 C>T
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: CGC to TGC
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 1

Findings

The R5C variant in MAPT was detected in one out of 188 individuals diagnosed with Parkinson’s disease with dementia (Schulte et al., 2015). The variant-carrier had apparently idiopathic PD that presented first with bradykinesia and resting tremor. He later developed rigor, postural instability and dementia. He had a dizygotic twin brother with life-long essential tremor, but the brother was not available for genotyping. The variant was absent in 188 PD cases without dementia and in 376 controls.

Neuropathology

Unknown.

Biological Effect

Unknown.

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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