Mutations

MAPT C291R

Overview

Pathogenicity: Corticobasal Syndrome : Unclear Pathogenicity
Clinical Phenotype: Apraxia of Speech, Corticobasal Syndrome
Reference Assembly: GRCh37/hg19
Position: Chr17:44087724 T>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: TGT to CGT
Reference Isoform: Tau Isoform Tau-F (441 aa)
Genomic Region: Exon 10

Findings

This mutation was identified in a woman diagnosed with corticobasal syndrome (Marshall et al., 2015). At the age of 47 she developed progressive speech difficulty, notably progressive apraxia of speech. Within six years she was almost completely mute. Other symptoms included cognitive slowing and some executive dysfunction, as well as stiffness and pain in her right arm. Her mother had experienced similar symptoms. She had progressive speech difficulty by age 60 and died at age 67 with a diagnosis of motor neuron disease. Segregation with disease could not be assessed.

Neuropathology

Unknown. MRI scan showed global atrophy of the cerebrum, especially in the left posterior frontal lobe and widening of the left precentral sulcus and sylvian fissure.

Biological Effect

Unknown. In silico analysis predicted an increase in exon 10 splicing.

Last Updated: 09 Oct 2015

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References

Paper Citations

  1. . A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech. J Alzheimers Dis. 2015;48(4):923-6. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech. J Alzheimers Dis. 2015;48(4):923-6. PubMed.

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