Overview

Pathogenicity: Frontotemporal Dementia : , Parkinson's Disease : Unclear Pathogenicity
Clinical Phenotype: Parkinson's Disease
Reference Assembly: GRCh37 (105)
Position: Chr17:44096064 A>G
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 12
Mutation Type: Point, Missense
Codon Change: ATC to GTC

Findings

This variant was detected in one out of 188 people with Parkinson’s disease (Schulte et al., 2015). The affected individual had apparently idiopathic PD with no family history of the disease. Onset occurred at age 64. Symptoms included bradykinesia, rigor, resting tremor, and postural instability. Dementia was not present. This variant was absent in the other individuals studied, including 188 cases of PD with dementia and 376 elderly controls.

Note that this variant was originally reported as I695V in reference to tau isoform G (P10636-9), aka isoform 6 (NP_001116538), which is 776 amino acids long. Here it is denoted as I360V to reflect its position in tau isoform F (P10636-8), which is the conventional reference for describing mutations in MAPT.

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.

External Citations

1. P10636-9
2. NP_001116538

Further Reading