New genes, new dilemmas: FTLD genetics and its implications for families

Am J Alzheimers Dis Other Demen. 2007;22(6):507-15. doi: 10.1177/1533317507306662.

Abstract

After Alzheimer's disease, frontotemporal lobar degeneration (FTLD) is the second leading cause of dementia in persons less than 65 years of age. Up to 40% of FTLD cases have a positive family history. Research on these families has led to the discovery of four disease-causing genes: microtubule-associated protein tau (MAPT), progranulin (PGRN), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B). MAPT and PGRN are responsible for the largest number of familial cases. Each of these genes differs by disease mechanism. Moreover mutations in both genes are associated with significant interfamilial and intrafamilial phenotypic variation. Genetic counseling needs to address the differences between the PGRN and MAPT mutations as well as the variation in clinical symptoms. The aims of this article are to describe the genetics of the FTLD spectrum and aid in the genetic counseling of individuals who may carry genetic mutations.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Aged
  • Cell Cycle Proteins / genetics
  • DNA Mutational Analysis
  • Dementia / genetics*
  • Endosomal Sorting Complexes Required for Transport
  • Female
  • Genetic Counseling
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing*
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics
  • Pedigree
  • Phenotype
  • Progranulins
  • Valosin Containing Protein
  • tau Proteins / genetics

Substances

  • CHMP2B protein, human
  • Cell Cycle Proteins
  • Endosomal Sorting Complexes Required for Transport
  • GRN protein, human
  • Genetic Markers
  • Intercellular Signaling Peptides and Proteins
  • MAPT protein, human
  • Nerve Tissue Proteins
  • Progranulins
  • tau Proteins
  • Adenosine Triphosphatases
  • VCP protein, human
  • Valosin Containing Protein