Mutations

MAPT K317M

Overview

Pathogenicity: Other Tauopathy : Pathogenic
Clinical Phenotype: Tauopathy with Parkinsonism and Motor Neuron Disease
Reference Assembly: GRCh37 (105)
Position: Chr17:44091643 A>T
dbSNP ID: rs63750092
Coding/Non-Coding: Coding
Genomic Region: Exon 11
Mutation Type: Point, Missense
Codon Change: AAG to ATG

Findings

The K317M mutation was identified in two genetically related families from Basque, Spain. The 13 affected individuals in these families presented with symptoms such as dysarthria (difficulty speaking), tremor, and other motor features such as parkinsonism, pyramidalism, and amyotrophy (progressive, painful muscle wasting). The mean age at onset was 48 years and the mean disease duration was six years. In these families the mutation is associated with FTDP-17 and causes a tauopathy with parkinsonism, motor neuron disease, and frontotemporal degeneration (Zarranz et al., 2005).

Neuropathology

Autopsy showed severe degeneration of the substantia nigra with extensive neuronal loss and gliosis. No Lewy bodies or Pick’s bodies were observed. Particularly severe neuron loss was noted in the motor bulbar nuclei and in the anterior horn of the spinal cord. Frequent, diverse inclusions were present in oligodendrocytes and astrocytes, and neurons contained phospho-tau-positive pre-tangles and tangles (Zarranz et al., 2005).

Biological Effect

Unknown.

Comments

No Available Comments

Make a Comment

To make a comment you must login or register.

References

Paper Citations

  1. . A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology. 2005 May 10;64(9):1578-85. PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

Disclaimer: Alzforum does not provide medical advice. The Content is for informational, educational, research and reference purposes only and is not intended to substitute for professional medical advice, diagnosis or treatment. Always seek advice from a qualified physician or health care professional about any medical concern, and do not disregard professional medical advice because of anything you may read on Alzforum.

Primary Papers

  1. . A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. Neurology. 2005 May 10;64(9):1578-85. PubMed.

Other mutations at this position

Alzpedia