Incorporating new diagnostic schemas, genetics, and proteinopathy into the evaluation of frontotemporal degeneration

Continuum (Minneap Minn). 2013 Apr;19(2 Dementia):438-56. doi: 10.1212/01.CON.0000429173.35439.9c.

Abstract

Purpose of review: Within the continuously growing body of knowledge in the field of dementia, frontotemporal degeneration stands out in importance as the second most common cause of early-onset dementia after Alzheimer disease. Neurologists, neuropsychologists, and speech pathologists are particularly involved in the diagnosis and recognition of etiologies for patients with deficits in frontal lobe function and language.

Recent findings: The recent discovery of a novel mutant gene (C9ORF72) and the new nomenclature adopted for subclassification have significantly promoted our understanding of this disorder.

Summary: This article relates the most recent consensus criteria for diagnosis of the two forms of frontotemporal degeneration (ie, behavioral and primary progressive aphasia variants) to basic neurologic principles and remind clinicians of the neuropsychiatric and neuroradiologic components that clarify frontotemporal degeneration diagnoses and guide management.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Aphasia, Primary Progressive / etiology
  • Brain / pathology
  • C9orf72 Protein
  • Disease Progression
  • Female
  • Frontotemporal Lobar Degeneration / complications*
  • Frontotemporal Lobar Degeneration / diagnosis*
  • Frontotemporal Lobar Degeneration / genetics*
  • Frontotemporal Lobar Degeneration / therapy
  • Genetic Testing
  • Humans
  • Male
  • Mental Disorders / etiology
  • Middle Aged
  • Mutation / genetics
  • Neuroimaging
  • Neuropsychological Tests
  • Proteins / genetics*
  • Proteins / metabolism
  • tau Proteins / genetics

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • MAPT protein, human
  • Proteins
  • tau Proteins