A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech

J Alzheimers Dis. 2015;48(4):923-6. doi: 10.3233/JAD-150477.

Abstract

The authors describe a case of corticobasal syndrome led by progressive apraxia of speech, associated with a novel mutation in exon 10 of the MAPT gene. Genetic bases for progressive apraxia of speech and corticobasal syndrome are only rarely described, and have not been described in conjunction.

Keywords: Corticobasal syndrome; frontotemporal dementia; microtubule-associated protein tau; progressive apraxia of speech.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apraxias / diagnosis
  • Apraxias / genetics*
  • Apraxias / pathology
  • Apraxias / physiopathology
  • Atrophy
  • Brain / pathology
  • Diagnosis, Differential
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Mutation*
  • Neurodegenerative Diseases / diagnosis
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / pathology
  • Neurodegenerative Diseases / physiopathology
  • Neuropsychological Tests
  • Sequence Analysis
  • Speech
  • tau Proteins / genetics*

Substances

  • MAPT protein, human
  • tau Proteins