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Frontotemporal dementia

From SNPedia

Known genetic loci according to "The epidemiology of frontotemporal dementia" [PMID 23611343OA-icon.png]:

  • Chromosome 9 open reading frame 72 (C9orf72), chromosomal location 9p21.2, found by association studies of familial FTD-MND, followed by mutation analysis of positional candidate genes. Some sporadic cases of FTD-MND have this mutation. Psychosis at presentation is not uncommon in carriers.
  • Progranulin (GRN), location 17q21.32, by linkage analysis followed by mutation analysis of positional candidate genes.
  • Microtubule-associated protein tau (MAPT), location 17q21.32, identified by linkage analysis of familial FTD with parkinsonism and gene-phenotype correlation.
  • Valosin-containing protein (VCP), location 9p13.3, by linkage analysis of a familial disorder characterized by inclusion body myopathy with osteolytic bone disease and FTD.
  • Chromatin-modifying protein 2B (CHMP2B), location 3p11.2, by linkage analysis.

[PMID 22890575OA-icon.png] The genetics and neuropathology of frontotemporal lobar degeneration.

[PMID 22732773OA-icon.png] Advances in understanding the molecular basis of frontotemporal dementia.

[PMID 22536193OA-icon.png] Genetics of Frontotemporal Lobar Degeneration.