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Frontotemporal dementia

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude
rs1930267897
rs6062312207
rs6062312217
rs637498010
rs637498170
rs637498770
rs637509720
rs7947296697
rs7947296707
rs7947296717
rs7947296727

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.