Frontotemporal dementia

Implications for understanding Alzheimer disease

Michel Goedert, Bernardino Ghetti, Maria Grazia Spillantini

Research output: Contribution to journalArticle

91 Citations (Scopus)

Abstract

Frontotemporal dementia (FTD) comprises a group of behavioral, language, and movement disorders. On the basis of the nature of the characteristic protein inclusions, frontotemporal lobar degeneration (FTLD) can be subdivided into the common FTLD-tau and FTLD-TDP as well as the less common FTLD-FUS and FTLD-UPS. Approximately 10% of cases of FTD are inherited in an autosomal-dominant manner. Mutations in seven genes cause FTD, with those in tau (MAPT), chromosome 9 open reading frame 72 (C9ORF72), and progranulin (GRN) being the most common. Mutations in MAPT give rise to FTLD-tau and mutations in C9ORF72 and GRN to FTLD-TDP. The other four genes are transactive response-DNA binding protein-43 (TARDBP), fused in sarcoma (FUS), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B). Mutations in TARDBP and VCP give rise to FTLD-TDP, mutations in FUS to FTLD-FUS, and mutations in CHMP2B to FTLD-UPS. The discovery that mutations in MAPT cause neurodegeneration and dementia has important implications for understanding Alzheimer disease.

Original languageEnglish
Article numbera006254
JournalCold Spring Harbor perspectives in medicine
Volume2
Issue number2
DOIs
StatePublished - 2012

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Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Alzheimer Disease
DNA-Binding Proteins
Chromosomes
Genes
Mutation
Proteins
Sarcoma
Multivesicular Bodies
Chromosomes, Human, Pair 9
Open Reading Frames
Language Disorders
Movement Disorders
CDC48 protein
Dementia

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Frontotemporal dementia : Implications for understanding Alzheimer disease. / Goedert, Michel; Ghetti, Bernardino; Spillantini, Maria Grazia.

In: Cold Spring Harbor perspectives in medicine, Vol. 2, No. 2, a006254, 2012.

Research output: Contribution to journalArticle

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